Lista de obras -

12q14 microdeletion syndrome and short stature with or without relative macrocephaly ⬇️

artículo científico publicado el 10 de agosto de 2012

1p34.3 deletion involving GRIK3: Further clinical implication of GRIK family glutamate receptors in the pathogenesis of developmental delay.

artículo científico publicado en 2013

A Pediatric Case of Antibiotic-Associated Hemorrhagic Colitis Caused by Klebsiella Oxytoca

artículo científico publicado en 2014

A case of CDKL5 disorder: improved ADL by simple treatment strategy for intractable epileptic seizures

artículo científico publicado en 2017

A major influence of CYP2C19 genotype on the steady-state concentration of N-desmethylclobazam

artículo científico publicado en 2004

A paradoxical thrombogenic mutation in factor II at the target site of arthropod bleeding toxin

artículo científico publicado en 2018

Absent inner dynein arms in a fetus with familial hydrocephalus-situs abnormality

artículo científico publicado en 2004

Acquisition of G₀ state by CD34-positive cord blood cells after bone marrow transplantation

artículo científico publicado en 2010

Activity-dependent regulation of HCN1 protein in cortical neurons

artículo científico publicado en 2009

Adverse effects of prenatal and early postnatal exposure to antiepileptic drugs: Validation from clinical and basic researches

artículo científico publicado en 2017

Age‐dependent change in behavioral feature in Rubinstein‐Taybi syndrome ⬇️

artículo científico publicado el 1 de junio de 2012

Altered patterns of neuron production in the p27 knockout mouse

artículo científico publicado en 2004

An Alu retrotransposition-mediated deletion of CHD7 in a patient with CHARGE syndrome

scientific article published on 01 April 2007

An Interleukin-33-Mast Cell-Interleukin-2 Axis Suppresses Papain-Induced Allergic Inflammation by Promoting Regulatory T Cell Numbers.

artículo científico publicado en 2015

Antigen-specific T-cell responses in patients with non–IgE-mediated gastrointestinal food allergy are predominantly skewed to TH2

article

Antihistamine effects on prefrontal cortex activity during working memory process in preschool children: a near-infrared spectroscopy (NIRS) study

artículo científico publicado en 2010

Association between patient age at the time of surgical treatment for endometriosis and aryl hydrocarbon receptor repressor polymorphism

artículo científico publicado en 2009

Biallelic mutations in NALCN: Expanding the genotypic and phenotypic spectra of IHPRF1.

artículo científico publicado en 2017

Branchial arch defects and 19p13.12 microdeletion: Defining the critical region into a 0.8 M base interval ⬇️

artículo científico publicado el 3 de agosto de 2011

CHARGE syndrome modeling using patient-iPSCs reveals defective migration of neural crest cells harboring CHD7 mutations.

artículo científico publicado en 2017

Case report: Adult phenotype of Mulvihill-Smith syndrome

artículo científico publicado en 2009

Catastrophic Autonomic Crisis With Cardiovascular Collapse in Spinal Muscular Atrophy With Respiratory Distress Type 1 ⬇️

artículo científico publicado el 16 de agosto de 2012

Caudal regression and tracheoesophageal malformation induced by adriamycin: a novel chick model of VATER association

artículo científico publicado en 2009

Cell-autonomous roles of ARX in cell proliferation and neuronal migration during corticogenesis

scientific journal article

Changeability of the fully methylated status of the 15q11.2 region in induced pluripotent stem cells derived from a patient with Prader-Willi syndrome

artículo científico publicado en 2016

Characterization of the aryl hydrocarbon receptor repressor gene and association of its Pro185Ala polymorphism with micropenis.

artículo científico publicado en 2002

Childhood Sjögren syndrome presenting as acute brainstem encephalitis

artículo científico

Cleidocranial dysplasia plus vascular anomalies with 6p21.2 microdeletion spanning RUNX2 and VEGF

artículo científico publicado en 2006

Clinical utility of an array comparative genomic hybridization analysis for Williams syndrome

artículo científico publicado en 2014

Co-occurrence of Sturge-Weber syndrome and Klippel-Trenaunay-Weber syndrome phenotype: Consideration of the historical aspect.

artículo científico publicado en 2017

Colocolic intussusception associated with pneumatosis cystoides intestinalis after cord blood stem cell transplantation.

artículo científico publicado en 2004

Complete mutation analysis panel of the 39 human HOX genes

artículo científico publicado en 2002

Comprehensive screening of CREB-binding protein gene mutations among patients with Rubinstein-Taybi syndrome using denaturing high-performance liquid chromatography.

artículo científico publicado en 2005

Comprehensive screening of the thiopurine methyltransferase polymorphisms by denaturing high-performance liquid chromatography

artículo científico publicado en 2005

Concurrent deletion of BMP4 and OTX2 genes, two master genes in ophthalmogenesis ⬇️

artículo científico publicado el 26 de octubre de 2012

Congenital corneal staphyloma as a complication of Kabuki syndrome ⬇️

artículo científico publicado el 11 de julio de 2012

Cryptococcal meningitis in an immunocompetent child

artículo científico publicado en 2005

Daytime somnolence in an adult with smith–magenis syndrome ⬇️

artículo científico publicado el 17 de mayo de 2013

Deficiency of BLNK hampers PLC-gamma2 phosphorylation and Ca2+ influx induced by the pre-B-cell receptor in human pre-B cells.

artículo científico publicado en 2004

Diagnosis of Russell-Silver syndrome by the combined bisulfite restriction analysis-denaturing high-performance liquid chromatography assay.

artículo científico publicado en 2009

Differences in voriconazole trough plasma concentrations per oral dosages between children younger and older than 3 years of age.

artículo científico publicado en 2010

Discrepancies in cytogenetic results between amniocytes and postnatally obtained blood: trisomy 9 mosaicism

artículo científico publicado en 2006

EFNB1 mutation at the ephrin ligand-receptor dimerization interface in a patient with craniofrontonasal syndrome.

artículo científico publicado en 2007

Effect of mother's voice on neonatal respiratory activity and EEG delta amplitude

artículo científico publicado en 2017

Effect of post-exposure prophylaxis with oseltamivir for those in contacts with influenza patients in pediatric wards

artículo científico publicado en 2004

Effective and safe immunizations with live-attenuated vaccines for children after living donor liver transplantation.

artículo científico publicado en 2008

Effectiveness of Trivalent Inactivated Influenza Vaccine in Children Estimated by a Test-Negative Case-Control Design Study Based on Influenza Rapid Diagnostic Test Results

artículo científico publicado en 2015

Effectiveness of inactivated influenza vaccine in children by vaccine dose, 2013-18

scientific article published on 08 June 2019

Effectiveness of inactivated quadrivalent influenza vaccine in the 2015/2016 season as assessed in both a test-negative case-control study design and a traditional case-control study design.

artículo científico publicado en 2018

Effects of methylenetetrahydrofolate reductase and reduced folate carrier 1 polymorphisms on high-dose methotrexate-induced toxicities in children with acute lymphoblastic leukemia or lymphoma

artículo científico publicado en 2006

Effects of sedative and nonsedative antihistamines on prefrontal activity during verbal fluency task in young children: a near-infrared spectroscopy (NIRS) study

artículo científico publicado en 2009

Efficacy and immunologic responses to influenza vaccine in HIV-1-infected patients

artículo científico publicado en 2005

Efficacy, Safety, and Pharmacokinetics of Intravenous Peramivir in Children with 2009 Pandemic H1N1 Influenza A Virus Infection ⬇️

artículo científico publicado el 24 de octubre de 2011

Elevated urine pregnanetriolone definitively establishes the diagnosis of classical 21-hydroxylase deficiency in term and preterm neonates

artículo científico publicado en 2004

Embryonic expression profile of chicken CHD7, the ortholog of the causative gene for CHARGE syndrome.

artículo científico publicado en 2007

Eosinophilic Cystitis Presented as a Manifestation of Hypereosinophilic Syndrome: A Case Report and Review of the Literature ⬇️

artículo científico publicado el 16 de febrero de 2013

Establishment of a novel childhood acute myeloid leukaemia cell line, KOPM-88, containing partial tandem duplication of the MLL gene and an in vivo model for childhood acute myeloid leukaemia using NOD/SCID mice

artículo científico publicado en 2007

Functional Hemispheric Specialization in Processing Phonemic and Prosodic Auditory Changes in Neonates ⬇️

artículo científico publicado el 15 de septiembre de 2011

Further evidence of a causal association between AGO1, a critical regulator of microRNA formation, and intellectual disability/autism spectrum disorder

artículo científico publicado en 2018

Further evidence that a blepharophimosis syndrome phenotype is associated with a specific class of mutation in the ADNP gene.

artículo científico publicado en 2017

GATA6 mutations cause human cardiac outflow tract defects by disrupting semaphorin-plexin signaling

artículo científico publicado en 2009

Gene Knock-Outs of Inositol 1,4,5-Trisphosphate Receptors Types 1 and 2 Result in Perturbation of Cardiogenesis ⬇️

artículo científico publicado el 1 de septiembre de 2010

Genetic analysis of essential cardiac transcription factors in 256 patients with non-syndromic congenital heart defects.

artículo científico publicado en 2012

Genetic regulation of proliferation/differentiation characteristics of neural progenitor cells in the developing neocortex

artículo científico publicado en 2009

Genome-wide screening of dioxin-responsive genes in fetal brain: bioinformatic and experimental approaches

artículo científico

Growth-chart-based qualitative evaluation of height growth after hematopoietic stem cell transplantation

artículo científico publicado en 2006

Hirschsprung disease as a yet undescribed phenotype in a patient with ARID1B mutation.

artículo científico publicado en 2016

Histopathological and behavioral improvement of murine mucopolysaccharidosis type VII by intracerebral transplantation of neural stem cells

artículo científico publicado en 2005

Hydrocephalus with Hirschsprung disease: Severe end of X‐linked hydrocephalus spectrum ⬇️

artículo científico publicado el 21 de febrero de 2012

Hyperinsulinemic hypoglycemia in a newborn infant with trisomy 13

artículo científico publicado en 2004

Hypoglycemia associated with L-asparaginase in acute lymphoblastic leukemia treatment: a case report

artículo científico publicado en 2012

Hypoxic regulation of the cerebral microcirculation is mediated by a carbon monoxide-sensitive hydrogen sulfide pathway.

artículo científico publicado en 2012

IL-25 and IL-33 Contribute to Development of Eosinophilic Airway Inflammation in Epicutaneously Antigen-Sensitized Mice

artículo científico publicado en 2015

Identification of a prosencephalic-specific enhancer of SALL1: comparative genomic approach using the chick embryo

artículo científico publicado en 2007

In Utero Exposure to Valproic Acid Induces Neocortical Dysgenesis via Dysregulation of Neural Progenitor Cell Proliferation/Differentiation.

artículo científico publicado en 2016

In utero exposure to dioxin causes neocortical dysgenesis through the actions of p27Kip1

artículo científico publicado en 2010

Inactivated influenza vaccine effectiveness and an analysis of repeated vaccination for children during the 2016/17 season

scientific article published on 06 August 2018

Influence of MTHFR and RFC1 polymorphisms on toxicities during maintenance chemotherapy for childhood acute lymphoblastic leukemia or lymphoma

artículo científico publicado en 2008

Inositol 1,4,5-trisphosphate receptor 2 as a novel marker of vasculature to delineate processes of cardiopulmonary development

scientific article published on 20 November 2019

Inositol 1,4,5-trisphosphate receptors are essential for the development of the second heart field ⬇️

artículo científico publicado el 5 de marzo de 2011

Interleukin-7 contributes to human pro-B-cell development in a mouse stromal cell-dependent culture system

artículo científico publicado en 2007

Interstitial microdeletion of 4p16.3: contribution of WHSC1 haploinsufficiency to the pathogenesis of developmental delay in Wolf-Hirschhorn syndrome

artículo científico publicado en 2010

Involvement of ER Stress in Dysmyelination of Pelizaeus-Merzbacher Disease with PLP1 Missense Mutations Shown by iPSC-Derived Oligodendrocytes.

artículo científico publicado en 2015

Involvement of ER stress in dysmyelination of Pelizaeus-Merzbacher Disease with PLP1 missense mutations shown by iPSC-derived oligodendrocytes

artículo científico publicado en 2014

Involvement of insulin-like growth factor-I and insulin-like growth factor binding proteins in pro-B-cell development

artículo científico publicado en 2006

Iridic and retinal coloboma associated with prenatal methimazole exposure

artículo científico publicado en 2005

Is that cranial deformity really due to sleeping position?

Klebsiella oxytoca-positive, penicillin-associated hemorrhagic enterocolitis in children

artículo científico publicado en 2010

Large fontanelles are a shared feature of haploinsufficiency of RUNX2 and its co-activator CBFB

scientific article published on 01 December 2004

Large-Area Fluorescence and Electron Microscopic Correlative Imaging With Multibeam Scanning Electron Microscopy

Maternal speech shapes the cerebral frontotemporal network in neonates: A hemodynamic functional connectivity study

artículo científico publicado en 2019

Mechanisms underlying early development of pulmonary vascular obstructive disease in Down syndrome: An imbalance in biosynthesis of thromboxane A2 and prostacyclin

scientific article published on 01 August 2010

Microdeletion of the Down syndrome critical region at 21q22.

artículo científico publicado en 2010

Microduplication of Xq24 and Hartsfield syndrome with holoprosencephaly, ectrodactyly, and clefting ⬇️

artículo científico publicado el 10 de agosto de 2012

Micropenis and the 5alpha-reductase-2 (SRD5A2) gene: mutation and V89L polymorphism analysis in 81 Japanese patients

artículo científico publicado en 2003

Molecular pathology of Shprintzen-Goldberg syndrome

scholarly article by Kenjiro Kosaki et al published 1 January 2006 in American Journal of Medical Genetics

Multiple café au lait spots in familial patients with MAP2K2 mutation.

artículo científico publicado en 2013

Multiple polypoid masses in the gastrointestinal tract in patient with Menkes disease on copper-histidinate therapy

artículo científico publicado en 2004

Multiplex PCR/liquid chromatography assay for screening of subtelomeric rearrangements

artículo científico publicado en 2007

Neocentromere marker chromosome of distal 3q mimicking dup(3q) syndrome phenotype

artículo científico publicado en 2008

Neocortical histogenesis and intractable epilepsy

artículo científico publicado en 2014

Noninvasive diagnosis of TRIT1-related mitochondrial disorder by measuring i6 A37 and ms2 i6 A37 modifications in tRNAs from blood and urine samples

artículo científico publicado en 2019

Paramagnetic signals in the globus pallidus as late radiographic sign of juvenile-onset GM1 gangliosidosis

artículo científico publicado en 2014

Partial deletion of LIS1: a pitfall in molecular diagnosis of Miller-Dieker syndrome

artículo científico publicado en 2007

Persistent hypertension despite successful dilation of a stenotic renal artery in a boy with neurofibromatosis type 1

scientific article published on 05 April 2013

Phenotypic spectrum of CHARGE syndrome with CHD7 mutations

artículo científico publicado en 2006

Porencephaly in a fetus and HANAC in her father: variable expression of COL4A1 mutation

artículo científico publicado en 2014

Position-specific expression of Hox genes along the gastrointestinal tract

artículo científico publicado en 2004

Posterior cerebral artery dissection on a serial magnetic resonance angiography ⬇️

artículo científico publicado el 20 de julio de 2011

Postexposure Prophylaxis for Influenza in Pediatric Wards Oseltamivir or Zanamivir After Rapid Antigen Detection ⬇️

artículo científico publicado el 1 de noviembre de 2012

Proliferation and differentiation characteristics of neural stem cells during course of cerebral cortical histogenesis

artículo científico

Psychosomatic disorders in children: an emerging challenge to health care in Japan

artículo científico publicado en 2002

Randomized controlled trial of oral immunotherapy for egg allergy in Japanese patients.

artículo científico publicado en 2017

Recent trends in pediatric bacterial meningitis in Japan, 2016-2018 - S. agalactiae has been the most common pathogen

artículo científico publicado en 2020

Recent trends in pediatric bacterial meningitis in Japan--a country where Haemophilus influenzae type b and Streptococcus pneumoniae conjugated vaccines have just been introduced

artículo científico publicado en 2014

Reconstitution activity of hypoxic cultured human cord blood CD34-positive cells in NOG mice

artículo científico publicado en 2008

Reference values for urinary steroids in Japanese newborn infants: gas chromatography/mass spectrometry in selected ion monitoring

artículo científico publicado en 2003

Respiratory arrest at the onset of idiopathic childhood occipital epilepsy of Gastaut

artículo científico publicado en 2017

Reversible Diffuse White Matter Lesion in Alagille Syndrome ⬇️

artículo científico publicado el 1 de julio de 2011

SOX9 dimerization domain mutation mimicking type 2 collagen disorder phenotype

artículo científico publicado en 2014

ST2 Requires Th2-, but Not Th17-, Type Airway Inflammation in Epicutaneously Antigen-Sensitized Mice ⬇️

artículo científico publicado el 25 de febrero de 2012

Safety and efficacy of linezolid in 16 infants and children in Japan ⬇️

artículo científico publicado el 31 de marzo de 2012

Screening for Alagille syndrome mutations in the JAG1 and NOTCH2 genes using denaturing high-performance liquid chromatography.

artículo científico publicado en 2007

Screening for CHARGE syndrome mutations in the CHD7 gene using denaturing high-performance liquid chromatography.

artículo científico publicado en 2006

Screening for partial deletions in the CREBBP gene in Rubinstein-Taybi syndrome patients using multiplex PCR/liquid chromatography

artículo científico publicado en 2006

Sedation protocol with fasting and shorter sleep leads to magnetic resonance imaging success

artículo científico publicado en 2017

Severe congenital lipodystrophy and a progeroid appearance: Mutation in the penultimate exon of FBN1 causing a recognizable phenotype.

artículo científico publicado en 2013

Severe craniosynostosis with Noonan syndrome phenotype associated with SHOC2 mutation: clinical evidence of crosslink between FGFR and RAS signaling pathways

article

Severe obstructive sleep apnea in loeys–dietz syndrome successfully treated using continuous positive airway pressure ⬇️

artículo científico publicado el 17 de mayo de 2013

Split hand foot malformation with whorl-like pigmentary pattern: phenotypic expression of somatic mosaicism for the p63 mutation

artículo científico publicado en 2008

Spontaneous intramural duodenal hematoma as the manifestation of Noonan syndrome

scientific article published on 11 December 2017

Spousal choice by height in an urban middle-class Japanese population

artículo científico publicado en 2013

Successful discontinuation of immunoglobulin G replacement at age 10 in a patient with immunoglobulin G2 deficiency

artículo científico publicado en 2017

Symbolic time series analysis of fNIRS signals in brain development assessment

artículo científico publicado en 2018

The RNA-binding protein HuD regulates neuronal cell identity and maturation.

artículo científico publicado en 2005

The cerebral hemodynamic response to phonetic changes of speech in preterm and term infants: The impact of postmenstrual age.

artículo científico publicado en 2018

The cross-sectional head circumference growth curves for Japanese from birth to 18 years of age: the 1990 and 1992-1994 national survey data

artículo científico publicado en 2002

Therapeutic hypothermia achieves neuroprotection via a decrease in acetylcholine with a concurrent increase in carnitine in the neonatal hypoxia-ischemia

artículo científico publicado en 2015

Three-season effectiveness of inactivated influenza vaccine in preventing influenza illness and hospitalization in children in Japan, 2013-2016.

artículo científico publicado en 2018

Thrombopoietin/MPL signaling regulates hematopoietic stem cell quiescence and interaction with the osteoblastic niche.

artículo científico publicado en 2007

Tissue-limited ring chromosome 18 mosaicism as a cause of Pitt-Hopkins syndrome

Transverse limb defect in a patient with Jacobsen syndrome: concurrence of malformation and disruption

artículo científico publicado en 2010

Trivalent inactivated influenza vaccine effective against influenza A(H3N2) variant viruses in children during the 2014/15 season, Japan

artículo científico publicado en 2016

Two distinctive classic genetic syndromes, 22q11.2 deletion syndrome and Angelman syndrome, occurring within the same family

artículo científico publicado en 2009

Two distinctive mechanisms leading to disruption of the SHOX transcription unit in a single family

artículo científico publicado en 2007

Type 2 inositol 1,4,5-trisphosphate receptor inhibits the progression of pulmonary arterial hypertension via calcium signaling and apoptosis

scientific article published on 20 November 2018

Updated data on effective and safe immunizations with live-attenuated vaccines for children after living donor liver transplantation

artículo científico publicado en 2014

Upper airway obstruction in neonates and infants with CHARGE syndrome

artículo científico publicado en 2007

Very low pandemic influenza A (H1N1) 2009 mortality associated with early neuraminidase inhibitor treatment in Japan: Analysis of 1000 hospitalized children ⬇️

artículo científico publicado el 22 de junio de 2011

Lista de obras de

12q14 microdeletion syndrome and short stature with or without relative macrocephaly ⬇️

1p34.3 deletion involving GRIK3: Further clinical implication of GRIK family glutamate receptors in the pathogenesis of developmental delay.

A Pediatric Case of Antibiotic-Associated Hemorrhagic Colitis Caused by Klebsiella Oxytoca

A case of CDKL5 disorder: improved ADL by simple treatment strategy for intractable epileptic seizures

A major influence of CYP2C19 genotype on the steady-state concentration of N-desmethylclobazam

A paradoxical thrombogenic mutation in factor II at the target site of arthropod bleeding toxin

Absent inner dynein arms in a fetus with familial hydrocephalus-situs abnormality

Acquisition of G₀ state by CD34-positive cord blood cells after bone marrow transplantation

Activity-dependent regulation of HCN1 protein in cortical neurons

Adverse effects of prenatal and early postnatal exposure to antiepileptic drugs: Validation from clinical and basic researches

Age‐dependent change in behavioral feature in Rubinstein‐Taybi syndrome ⬇️

Altered patterns of neuron production in the p27 knockout mouse

An Alu retrotransposition-mediated deletion of CHD7 in a patient with CHARGE syndrome

An Interleukin-33-Mast Cell-Interleukin-2 Axis Suppresses Papain-Induced Allergic Inflammation by Promoting Regulatory T Cell Numbers.

Antigen-specific T-cell responses in patients with non–IgE-mediated gastrointestinal food allergy are predominantly skewed to TH2

Antihistamine effects on prefrontal cortex activity during working memory process in preschool children: a near-infrared spectroscopy (NIRS) study

Association between patient age at the time of surgical treatment for endometriosis and aryl hydrocarbon receptor repressor polymorphism

Biallelic mutations in NALCN: Expanding the genotypic and phenotypic spectra of IHPRF1.

Branchial arch defects and 19p13.12 microdeletion: Defining the critical region into a 0.8 M base interval ⬇️

CHARGE syndrome modeling using patient-iPSCs reveals defective migration of neural crest cells harboring CHD7 mutations.

Case report: Adult phenotype of Mulvihill-Smith syndrome

Catastrophic Autonomic Crisis With Cardiovascular Collapse in Spinal Muscular Atrophy With Respiratory Distress Type 1 ⬇️

Caudal regression and tracheoesophageal malformation induced by adriamycin: a novel chick model of VATER association

Cell-autonomous roles of ARX in cell proliferation and neuronal migration during corticogenesis

Changeability of the fully methylated status of the 15q11.2 region in induced pluripotent stem cells derived from a patient with Prader-Willi syndrome

Characterization of the aryl hydrocarbon receptor repressor gene and association of its Pro185Ala polymorphism with micropenis.

Childhood Sjögren syndrome presenting as acute brainstem encephalitis

Cleidocranial dysplasia plus vascular anomalies with 6p21.2 microdeletion spanning RUNX2 and VEGF

Clinical utility of an array comparative genomic hybridization analysis for Williams syndrome

Co-occurrence of Sturge-Weber syndrome and Klippel-Trenaunay-Weber syndrome phenotype: Consideration of the historical aspect.

Colocolic intussusception associated with pneumatosis cystoides intestinalis after cord blood stem cell transplantation.

Complete mutation analysis panel of the 39 human HOX genes

Comprehensive screening of CREB-binding protein gene mutations among patients with Rubinstein-Taybi syndrome using denaturing high-performance liquid chromatography.

Comprehensive screening of the thiopurine methyltransferase polymorphisms by denaturing high-performance liquid chromatography

Concurrent deletion of BMP4 and OTX2 genes, two master genes in ophthalmogenesis ⬇️

Congenital corneal staphyloma as a complication of Kabuki syndrome ⬇️

Cryptococcal meningitis in an immunocompetent child

Daytime somnolence in an adult with smith–magenis syndrome ⬇️

Deficiency of BLNK hampers PLC-gamma2 phosphorylation and Ca2+ influx induced by the pre-B-cell receptor in human pre-B cells.

Diagnosis of Russell-Silver syndrome by the combined bisulfite restriction analysis-denaturing high-performance liquid chromatography assay.

Differences in voriconazole trough plasma concentrations per oral dosages between children younger and older than 3 years of age.

Discrepancies in cytogenetic results between amniocytes and postnatally obtained blood: trisomy 9 mosaicism

EFNB1 mutation at the ephrin ligand-receptor dimerization interface in a patient with craniofrontonasal syndrome.

Effect of mother's voice on neonatal respiratory activity and EEG delta amplitude

Effect of post-exposure prophylaxis with oseltamivir for those in contacts with influenza patients in pediatric wards

Effective and safe immunizations with live-attenuated vaccines for children after living donor liver transplantation.

Effectiveness of Trivalent Inactivated Influenza Vaccine in Children Estimated by a Test-Negative Case-Control Design Study Based on Influenza Rapid Diagnostic Test Results

Effectiveness of inactivated influenza vaccine in children by vaccine dose, 2013-18

Effectiveness of inactivated quadrivalent influenza vaccine in the 2015/2016 season as assessed in both a test-negative case-control study design and a traditional case-control study design.

Effects of methylenetetrahydrofolate reductase and reduced folate carrier 1 polymorphisms on high-dose methotrexate-induced toxicities in children with acute lymphoblastic leukemia or lymphoma

Effects of sedative and nonsedative antihistamines on prefrontal activity during verbal fluency task in young children: a near-infrared spectroscopy (NIRS) study

Efficacy and immunologic responses to influenza vaccine in HIV-1-infected patients

Efficacy, Safety, and Pharmacokinetics of Intravenous Peramivir in Children with 2009 Pandemic H1N1 Influenza A Virus Infection ⬇️

Elevated urine pregnanetriolone definitively establishes the diagnosis of classical 21-hydroxylase deficiency in term and preterm neonates

Embryonic expression profile of chicken CHD7, the ortholog of the causative gene for CHARGE syndrome.

Eosinophilic Cystitis Presented as a Manifestation of Hypereosinophilic Syndrome: A Case Report and Review of the Literature ⬇️

Establishment of a novel childhood acute myeloid leukaemia cell line, KOPM-88, containing partial tandem duplication of the MLL gene and an in vivo model for childhood acute myeloid leukaemia using NOD/SCID mice

Functional Hemispheric Specialization in Processing Phonemic and Prosodic Auditory Changes in Neonates ⬇️

Further evidence of a causal association between AGO1, a critical regulator of microRNA formation, and intellectual disability/autism spectrum disorder

Further evidence that a blepharophimosis syndrome phenotype is associated with a specific class of mutation in the ADNP gene.

GATA6 mutations cause human cardiac outflow tract defects by disrupting semaphorin-plexin signaling

Gene Knock-Outs of Inositol 1,4,5-Trisphosphate Receptors Types 1 and 2 Result in Perturbation of Cardiogenesis ⬇️

Genetic analysis of essential cardiac transcription factors in 256 patients with non-syndromic congenital heart defects.

Genetic regulation of proliferation/differentiation characteristics of neural progenitor cells in the developing neocortex

Genome-wide screening of dioxin-responsive genes in fetal brain: bioinformatic and experimental approaches

Growth-chart-based qualitative evaluation of height growth after hematopoietic stem cell transplantation

Hirschsprung disease as a yet undescribed phenotype in a patient with ARID1B mutation.

Histopathological and behavioral improvement of murine mucopolysaccharidosis type VII by intracerebral transplantation of neural stem cells

Hydrocephalus with Hirschsprung disease: Severe end of X‐linked hydrocephalus spectrum ⬇️

Hyperinsulinemic hypoglycemia in a newborn infant with trisomy 13

Hypoglycemia associated with L-asparaginase in acute lymphoblastic leukemia treatment: a case report

Hypoxic regulation of the cerebral microcirculation is mediated by a carbon monoxide-sensitive hydrogen sulfide pathway.

IL-25 and IL-33 Contribute to Development of Eosinophilic Airway Inflammation in Epicutaneously Antigen-Sensitized Mice

Identification of a prosencephalic-specific enhancer of SALL1: comparative genomic approach using the chick embryo

In Utero Exposure to Valproic Acid Induces Neocortical Dysgenesis via Dysregulation of Neural Progenitor Cell Proliferation/Differentiation.

In utero exposure to dioxin causes neocortical dysgenesis through the actions of p27Kip1

Inactivated influenza vaccine effectiveness and an analysis of repeated vaccination for children during the 2016/17 season

Influence of MTHFR and RFC1 polymorphisms on toxicities during maintenance chemotherapy for childhood acute lymphoblastic leukemia or lymphoma

Inositol 1,4,5-trisphosphate receptor 2 as a novel marker of vasculature to delineate processes of cardiopulmonary development