Lista de obras - Bernd Wollnik - Dominio Público Uruguay

509 Tumor suppression in basal keratinocytes via dual non-cell-autonomous functions of a Na,K-ATPase beta subunit

scholarly article

A Novel Mutation in PIGA Associated with Multiple Congenital Anomalies-Hypotonia-Seizure Syndrome 2 (MCAHS2) in a Boy with a Combination of Severe Epilepsy and Gingival Hyperplasia

scientific article published on 05 February 2020

A common mechanism for microcephaly

artículo científico publicado el 1 de noviembre de 2010

A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

artículo científico publicado en 2013

A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome

artículo científico publicado en 2010

A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome

artículo científico publicado en 2013

A large duplication in LIPH underlies autosomal recessive hypotrichosis simplex in four Middle Eastern families

article published in 2008

A large duplication involving the IHH locus mimics acrocallosal syndrome

artículo científico publicado en 2012

A mutation in PNPT1, encoding mitochondrial-RNA-import protein PNPase, causes hereditary hearing loss

artículo científico publicado en 2012

A mutation in the 5'-UTR of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type V with hyperplastic callus

artículo científico publicado en 2012

A mutation in the signal sequence of LRP5 in a family with an osteoporosis-pseudoglioma syndrome (OPPG)-like phenotype indicates a novel disease mechanism for trinucleotide repeats

artículo científico publicado en 2009

A mutation screen in patients with Kabuki syndrome

artículo científico publicado en 2011

A new clinical presentation associated with pontine clefting, hyperpigmentation and short stature in addition to craniofacial, cardiac and developmental anomalies

artículo científico publicado el 1 de enero de 2012

A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype

artículo científico publicado en 2013

A nonclassical IFITM5 mutation located in the coding region causes severe osteogenesis imperfecta with prenatal onset.

artículo científico publicado en 2014

A novel homozygous COL11A2 deletion causes a C-terminal protein truncation with incomplete mRNA decay in a Turkish patient

artículo científico publicado en 2011

A novel homozygous PAM16 mutation in a patient with a milder phenotype and longer survival

scientific article published on 29 June 2016

A novel homozygous missense mutation in FGF23 causes Familial Tumoral Calcinosis associated with disseminated visceral calcification

artículo científico publicado en 2005

A novel mutation in RNU4ATAC in a patient with microcephalic osteodysplastic primordial dwarfism type I

artículo científico publicado en 2015

A novel mutation in the Espin gene causes autosomal recessive nonsyndromic hearing loss but no apparent vestibular dysfunction in a Moroccan family

artículo científico publicado en 2008

A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome

artículo científico publicado en 2020

A specific mutation in the distant sonic hedgehog (SHH) cis-regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly and preaxial polydactyly (PPD) with or without triphalangeal thumb

artículo científico publicado en 2010

A syndrome of microcephaly, short stature, polysyndactyly, and dental anomalies caused by a homozygous KATNB1 mutation

artículo científico publicado en 2015

A systematic comparison of two new releases of exome sequencing products: the aim of use determines the choice of product

artículo científico publicado en 2016

ALX4 dysfunction disrupts craniofacial and epidermal development

artículo científico publicado en 2009

Activating somatic FGFR2 mutations in breast cancer

artículo científico publicado en 2013

Altered FGF signalling in congenital craniofacial and skeletal disorders

artículo científico

An unusual presentation of Kabuki syndrome with orbital cysts, microphthalmia, and cholestasis with bile duct paucity

artículo científico publicado en 2016

Analysis of MYO7A in a Moroccan family with Usher syndrome type 1B: novel loss-of-function mutation and non-pathogenicity of p.Y1719C.

artículo científico publicado en 2007

Aplasia cutis congenita in a CDC42-related developmental phenotype

artículo científico publicado en 2020

Attenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and zebrafish

artículo científico publicado en 2012

Autosomal recessive primary microcephaly due to ASPM mutations: An update

artículo científico publicado en 2017

Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta

scientific article published on 26 September 2019

Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis

artículo científico publicado en 2020

Biallelic variants in YRDC cause a developmental disorder with progeroid features

artículo científico publicado en 2021

CADASIL syndrome in a large Turkish kindred caused by the R90C mutation in the Notch3 receptor ⬇️

artículo científico publicado el 1 de enero de 2002

CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays

artículo científico publicado en 2017

CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly

artículo científico publicado en 2013

CEP152 is a genome maintenance protein disrupted in Seckel syndrome

artículo científico publicado en 2011

CHARGE and Kabuki syndromes: a phenotypic and molecular link

artículo científico publicado en 2014

CRIM1 haploinsufficiency causes defects in eye development in human and mouse

artículo científico publicado en 2015

CYP21A2 gene mutations in congenital adrenal hyperplasia: genotype-phenotype correlation in Turkish children

artículo científico publicado en 2009

Catecholamine-Dependent β-Adrenergic Signaling in a Pluripotent Stem Cell Model of Takotsubo Cardiomyopathy

artículo científico publicado en 2017

Catecholaminergic polymorphic ventricular tachycardia caused by a novel mutation in the cardiac ryanodine receptor

artículo científico publicado en 2008

Coffin-Siris Syndrome ⬇️

artículo científico publicado el 12 de agosto de 2021

Colobomatous macrophthalmia with microcornea syndrome maps to the 2p23-p16 region

scientific article published on 01 June 2007

Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation in IARS2.

artículo científico publicado en 2017

Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia

artículo científico publicado en 2003

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

scientific article published on 01 September 2019

Craniosynostosis and multiple skeletal anomalies in humans and zebrafish result from a defect in the localized degradation of retinoic acid

artículo científico publicado en 2011

Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1

artículo científico publicado en 2007

De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction

artículo científico publicado en 2017

De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome

artículo científico publicado en 2020

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development

artículo científico publicado en 2017

Disruption of ALX1 causes extreme microphthalmia and severe facial clefting: expanding the spectrum of autosomal-recessive ALX-related frontonasal dysplasia

artículo científico publicado en 2010

Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta

artículo científico publicado en 2011

Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.

artículo científico publicado en 2015

Extreme growth failure is a common presentation of ligase IV deficiency

artículo científico publicado en 2013

Familial cleft tongue caused by a unique translation initiation codon variant in TP63

artículo científico publicado en 2021

Family history, clinical features, and molecular characterization of a patient with autosomal recessive non-syndromic hearing loss

artículo científico publicado en 2003

First independent replication study confirms the strong genetic association of ANXA11 with sarcoidosis

artículo científico publicado en 2010

Genetic determinants of heart failure: facts and numbers

artículo científico publicado en 2018

Genetic diagnostics for cardiomyopathies

artículo científico publicado en 2017

Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa

artículo científico publicado en 2013

HACE1 deficiency leads to structural and functional neurodevelopmental defects

artículo científico publicado en 2019

Hallermann-Streiff syndrome: A missing molecular link for a highly recognizable syndrome

artículo científico publicado en 2018

Haploinsufficiency of TBX3 causes ulnar-mammary syndrome in a large Turkish family

artículo científico publicado en 2002

Hereditary angioedema in a single family with specific mutations in both plasminogen and SERPING1 genes

artículo científico publicado en 2020

Hereditäres Angioödem in einer Familie mit spezifischen Mutationen sowohl im Plasminogen- als auch im SERPING1-Gen

artículo científico publicado en 2020

Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability

artículo científico publicado en 2017

Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia

scientific article published on 07 October 2020

Homozygosity for the c.428delG variant in KIAA0586 in a healthy individual: implications for molecular testing in patients with Joubert syndrome

scientific article published on 17 August 2018

Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome

artículo científico publicado en 2003

Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly

artículo científico publicado en 2019

Human RAD50 deficiency: Confirmation of a distinctive phenotype

artículo científico publicado en 2020

Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies

artículo científico publicado en 2013

Intronic CRISPR Repair in a Preclinical Model of Noonan Syndrome-Associated Cardiomyopathy

artículo científico publicado en 2020

Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment

artículo científico publicado en 2007

LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome

artículo científico publicado en 2010

Lacrimo-auriculo-dento-digital syndrome is caused by reduced activity of the fibroblast growth factor 10 (FGF10)-FGF receptor 2 signaling pathway

artículo científico publicado en 2007

Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death

artículo científico publicado en 2007

Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42

artículo científico publicado en 2011

Lrp4 regulates initiation of ureteric budding and is crucial for kidney formation--a mouse model for Cenani-Lenz syndrome

artículo científico publicado en 2010

MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation

artículo científico publicado en 2007

Metatarsal bony syndactyly in 2 fetuses with Smith-Lemli-Opitz syndrome: An under-recognized part of the clinical spectrum

artículo científico publicado en 2017

Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.

artículo científico publicado en 2016

Mutational Landscapes and Phenotypic Spectrum of SWI/SNF-Related Intellectual Disability Disorders

scholarly article by Nina Bögershausen published in January 2018

Mutations in CDK5RAP2 cause Seckel syndrome

artículo científico publicado en 2015

Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome

artículo científico publicado en 2014

Mutations in PYCR1 cause cutis laxa with progeroid features

artículo científico publicado en 2009

Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfecta

artículo científico publicado en 2015

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

artículo científico publicado en 2018

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

artículo científico publicado en 2018

Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss

artículo científico publicado en 2010

Mutations in WNT1 cause different forms of bone fragility

artículo científico publicado en 2013

Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability

artículo científico publicado en 2015

Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes

artículo científico publicado en 2017

Mutations in different components of FGF signaling in LADD syndrome

artículo científico publicado en 2006

Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome

artículo científico publicado en 2018

Mutations in the interleukin receptor IL11RA cause autosomal recessive Crouzon-like craniosynostosis

scientific article published on 19 August 2013

Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss

artículo científico publicado en 2006

Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35.

artículo científico publicado en 2008

New gain-of-function mutation shows CACNA1D as recurrently mutated gene in autism spectrum disorders and epilepsy

artículo científico publicado en 2017

Novel IFT122 mutations in three Argentinian patients with cranioectodermal dysplasia: Expanding the mutational spectrum

Novel PNKP mutations causing defective DNA strand break repair and PARP1 hyperactivity in MCSZ

artículo científico publicado en 2019

Novel compound heterozygous mutations in TELO2 in a patient with severe expression of You-Hoover-Fong syndrome

artículo científico publicado en 2017

Novel homozygous p.E64D mutation in DJ1 in early onset Parkinson disease (PARK7).

artículo científico publicado en 2004

Overarching control of autophagy and DNA damage response by CHD6 revealed by modeling a rare human pathology

artículo científico publicado en 2021

PEDIA: prioritization of exome data by image analysis

artículo científico publicado en 2019

Phenotype reveals genotype in a Greek long QT syndrome family

artículo científico publicado en 2006

Pontocerebellar hypoplasia type III (CLAM): extended phenotype and novel molecular findings

artículo científico publicado en 2009

Premature ageing disorders - a clinical and genetic compendium

artículo científico publicado en 2020

Progressive autosomal dominant optic atrophy and sensorineural hearing loss in a Turkish family

artículo científico publicado en 2002

RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome

artículo científico publicado en 2015

Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability

artículo científico publicado en 2013

SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite

scientific article published on 01 April 2019

Severe Cenani-Lenz syndrome caused by loss of LRP4 function

artículo científico publicado en 2013

Smith-Kingsmore syndrome: A third family with the MTOR mutation c.5395G>A p.(Glu1799Lys) and evidence for paternal gonadal mosaicism

artículo científico publicado en 2016

Specific combinations of biallelic variants cause Wiedemann-Rautenstrauch syndrome

scientific article published on 15 October 2018

Structural basis for reduced FGFR2 activity in LADD syndrome: Implications for FGFR autoinhibition and activation

artículo científico publicado en 2007

Sustained NF-kappaB activity in chronic lymphocytic leukemia is independent of genetic and epigenetic alterations in the TNFAIP3 (A20) locus

artículo científico publicado en 2011

TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism

artículo científico publicado en 2015

Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signaling

artículo científico publicado en 2010

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

article

The antihistamine fexofenadine does not affect I(Kr) currents in a case report of drug-induced cardiac arrhythmia

artículo científico publicado en 2002

The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotype

scientific article published on 24 December 2019

Tumor suppression in basal keratinocytes via dual non-cell-autonomous functions of a Na,K-ATPase beta subunit

artículo científico publicado en 2016

Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling.

artículo científico publicado en 2009

Wiedemann-Rautenstrauch syndrome: A phenotype analysis.

artículo científico publicado en 2017

[A Newborn Suffering from Arhinia: Neonatologic Challenges During Primary Care of the Newborn With Bosma Arhinia Microphthalmia Syndrome (BAMS)]

artículo científico publicado en 2020

hKChIP2 is a functional modifier of hKv4.3 potassium channels Cloning and expression of a short hKChIP2 splice variant ⬇️

artículo científico publicado el 1 de noviembre de 2001

tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia

artículo científico publicado en 2008

Lista de obras de Bernd Wollnik

509 Tumor suppression in basal keratinocytes via dual non-cell-autonomous functions of a Na,K-ATPase beta subunit

A Novel Mutation in PIGA Associated with Multiple Congenital Anomalies-Hypotonia-Seizure Syndrome 2 (MCAHS2) in a Boy with a Combination of Severe Epilepsy and Gingival Hyperplasia

A common mechanism for microcephaly

A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome

A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome

A large duplication in LIPH underlies autosomal recessive hypotrichosis simplex in four Middle Eastern families

A large duplication involving the IHH locus mimics acrocallosal syndrome

A mutation in PNPT1, encoding mitochondrial-RNA-import protein PNPase, causes hereditary hearing loss

A mutation in the 5'-UTR of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type V with hyperplastic callus

A mutation in the signal sequence of LRP5 in a family with an osteoporosis-pseudoglioma syndrome (OPPG)-like phenotype indicates a novel disease mechanism for trinucleotide repeats

A mutation screen in patients with Kabuki syndrome

A new clinical presentation associated with pontine clefting, hyperpigmentation and short stature in addition to craniofacial, cardiac and developmental anomalies

A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype

A nonclassical IFITM5 mutation located in the coding region causes severe osteogenesis imperfecta with prenatal onset.

A novel homozygous COL11A2 deletion causes a C-terminal protein truncation with incomplete mRNA decay in a Turkish patient

A novel homozygous PAM16 mutation in a patient with a milder phenotype and longer survival

A novel homozygous missense mutation in FGF23 causes Familial Tumoral Calcinosis associated with disseminated visceral calcification

A novel mutation in RNU4ATAC in a patient with microcephalic osteodysplastic primordial dwarfism type I

A novel mutation in the Espin gene causes autosomal recessive nonsyndromic hearing loss but no apparent vestibular dysfunction in a Moroccan family

A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome

A specific mutation in the distant sonic hedgehog (SHH) cis-regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly and preaxial polydactyly (PPD) with or without triphalangeal thumb

A syndrome of microcephaly, short stature, polysyndactyly, and dental anomalies caused by a homozygous KATNB1 mutation

A systematic comparison of two new releases of exome sequencing products: the aim of use determines the choice of product

ALX4 dysfunction disrupts craniofacial and epidermal development

Activating somatic FGFR2 mutations in breast cancer

Altered FGF signalling in congenital craniofacial and skeletal disorders

An unusual presentation of Kabuki syndrome with orbital cysts, microphthalmia, and cholestasis with bile duct paucity

Analysis of MYO7A in a Moroccan family with Usher syndrome type 1B: novel loss-of-function mutation and non-pathogenicity of p.Y1719C.

Aplasia cutis congenita in a CDC42-related developmental phenotype

Attenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and zebrafish

Autosomal recessive primary microcephaly due to ASPM mutations: An update

Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta

Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis

Biallelic variants in YRDC cause a developmental disorder with progeroid features

CADASIL syndrome in a large Turkish kindred caused by the R90C mutation in the Notch3 receptor ⬇️

CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays

CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly

CEP152 is a genome maintenance protein disrupted in Seckel syndrome

CHARGE and Kabuki syndromes: a phenotypic and molecular link

CRIM1 haploinsufficiency causes defects in eye development in human and mouse

CYP21A2 gene mutations in congenital adrenal hyperplasia: genotype-phenotype correlation in Turkish children

Catecholamine-Dependent β-Adrenergic Signaling in a Pluripotent Stem Cell Model of Takotsubo Cardiomyopathy

Catecholaminergic polymorphic ventricular tachycardia caused by a novel mutation in the cardiac ryanodine receptor

Coffin-Siris Syndrome ⬇️

Colobomatous macrophthalmia with microcornea syndrome maps to the 2p23-p16 region

Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation in IARS2.

Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

Craniosynostosis and multiple skeletal anomalies in humans and zebrafish result from a defect in the localized degradation of retinoic acid

Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1

De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction

De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development

Disruption of ALX1 causes extreme microphthalmia and severe facial clefting: expanding the spectrum of autosomal-recessive ALX-related frontonasal dysplasia

Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta

Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.

Extreme growth failure is a common presentation of ligase IV deficiency

Familial cleft tongue caused by a unique translation initiation codon variant in TP63

Family history, clinical features, and molecular characterization of a patient with autosomal recessive non-syndromic hearing loss

First independent replication study confirms the strong genetic association of ANXA11 with sarcoidosis

Genetic determinants of heart failure: facts and numbers

Genetic diagnostics for cardiomyopathies

Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa

HACE1 deficiency leads to structural and functional neurodevelopmental defects

Hallermann-Streiff syndrome: A missing molecular link for a highly recognizable syndrome

Haploinsufficiency of TBX3 causes ulnar-mammary syndrome in a large Turkish family

Hereditary angioedema in a single family with specific mutations in both plasminogen and SERPING1 genes

Hereditäres Angioödem in einer Familie mit spezifischen Mutationen sowohl im Plasminogen- als auch im SERPING1-Gen

Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability

Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia

Homozygosity for the c.428delG variant in KIAA0586 in a healthy individual: implications for molecular testing in patients with Joubert syndrome

Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome

Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly

Human RAD50 deficiency: Confirmation of a distinctive phenotype

Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies

Intronic CRISPR Repair in a Preclinical Model of Noonan Syndrome-Associated Cardiomyopathy

Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment

LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome