Filtros de búsqueda

Lista de obras de Suzanne M. Leal

A Fast and Noise‐Resilient Approach to Detect Rare‐Variant Associations With Deep Sequencing Data for Complex Disorders ⬇️

artículo científico publicado el 3 de agosto de 2012

A Monoallelic Variant in REST Is Associated with Non-Syndromic Autosomal Dominant Hearing Impairment in a South African Family

artículo científico publicado en 2021

A Novel Adaptive Method for the Analysis of Next-Generation Sequencing Data to Detect Complex Trait Associations with Rare Variants Due to Gene Main Effects and Interactions ⬇️

artículo científico publicado el 14 de octubre de 2010

A Novel ESRRB Deletion Is a Rare Cause of Autosomal Recessive Nonsyndromic Hearing Impairment among Pakistani Families ⬇️

artículo científico publicado el 25 de septiembre de 2011

A Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing Impairment

scientific journal article

A Rare Variant Nonparametric Linkage Method for Nuclear and Extended Pedigrees with Application to Late-Onset Alzheimer Disease via WGS Data

scientific article published on 01 October 2019

A Start Codon Variant in NOG Underlies Symphalangism and Ossicular Chain Malformations Affecting Both the Incus and the Stapes

artículo científico publicado en 2019

A Unified Method for Detecting Secondary Trait Associations with Rare Variants: Application to Sequence Data ⬇️

artículo científico publicado el 15 de noviembre de 2012

A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism

artículo científico publicado en 2012

A de novo SIX1 variant in a patient with a rare nonsyndromic cochleovestibular nerve abnormality, cochlear hypoplasia, and bilateral sensorineural hearing loss

scientific article published on 08 October 2019

A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family

artículo científico publicado en 2018

A distinct autosomal recessive ataxia maps to chromosome 12 in an inbred family from Jordan.

artículo científico publicado en 2006

A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20.

artículo científico publicado en 2016

A homozygous missense mutation in SLC25A16 associated with autosomal recessive isolated fingernail dysplasia in a Pakistani family

artículo científico publicado en 2017

A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair

artículo científico publicado en 2015

A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis

artículo científico publicado en 2009

A locus for hereditary hypotrichosis localized to human chromosome 18q21.1.

artículo científico publicado en 2003

A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type

artículo científico publicado en 2006

A new autosomal recessive nonsyndromic hearing impairment locus DFNB96 on chromosome 1p36.31-p36.13.

artículo científico publicado en 2011

A new locus for autosomal dominant amelogenesis imperfecta on chromosome 8q24.3.

artículo científico

A non-coding RNASEH1 gene variant associates with Type 1 diabetes and interacts with HLA tagSNPs in families from Colombia

scientific article published on 23 May 2020

A novel autosomal dominant GREB1L variant associated with non-syndromic hearing impairment in Ghana

scientific article published in 2022

A novel autosomal recessive non-syndromic deafness locus (DFNB35) maps to 14q24.1-14q24.3 in large consanguineous kindred from Pakistan

artículo científico publicado en 2003

A novel autosomal recessive non-syndromic hearing impairment locus (DFNB47) maps to chromosome 2p25.1-p24.3.

artículo científico publicado en 2005

A novel autosomal recessive nonsyndromic hearing impairment locus (DFNB42) maps to chromosome 3q13.31-q22.3.

artículo científico publicado en 2005

A novel g.-1258G>A mutation in a conserved putative regulatory element of PAX9 is associated with autosomal dominant molar hypodontia.

artículo científico publicado en 2010

A novel homozygous variant in BMPR1B underlies acromesomelic dysplasia Hunter-Thompson type.

artículo científico publicado en 2018

A novel locus for alopecia with mental retardation syndrome (APMR2) maps to chromosome 3q26.2-q26.31.

artículo científico publicado en 2006

A novel locus for autosomal recessive form of hypotrichosis maps to chromosome 3q26.33-q27.3

artículo científico publicado en 2004

A novel missense variant in the PNPLA1 gene underlies congenital ichthyosis in three consanguineous families.

artículo científico publicado en 2015

A novel variant in <i>DMXL2</i> gene is associated with autosomal dominant non-syndromic hearing impairment (DFNA71) in a Cameroonian family

artículo científico publicado en 2021

A recurrent intragenic deletion mutation in DSG4 gene in three Pakistani families with autosomal recessive hypotrichosis

artículo científico publicado en 2004

A second generation human haplotype map of over 3.1 million SNPs

artículo científico publicado en 2007

A second kindred linked to DFNA20 (17q25.3) reduces the genetic interval.

artículo científico publicado en 2003

A variant in LMX1A causes autosomal recessive severe-to-profound hearing impairment

artículo científico publicado en 2018

A2ML1 and otitis media: novel variants, differential expression, and relevant pathways

scientific article published on 21 May 2019

AUNX1, a novel locus responsible for X linked recessive auditory and peripheral neuropathy, maps to Xq23-27.3.

artículo científico publicado en 2006

Abstract 2190: Fine-mapping of common genetic variants associated with colorectal tumor risk identified potential functional variants

Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish

artículo científico publicado en 2014

Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.

artículo científico publicado en 2012

Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants

artículo científico publicado en 2012

Association of exome sequences with plasma C-reactive protein levels in >9000 participants

artículo científico publicado en 2014

Autosomal Dominantly Inherited GREB1L Variants in Individuals with Profound Sensorineural Hearing Impairment

artículo científico publicado en 2020

Autosomal Recessive Nonsyndromic Hearing Impairment due to a Novel Deletion in the RDX Gene ⬇️

artículo científico publicado el 1 de enero de 2011

Autosomal dominant progressive sensorineural hearing loss due to a novel mutation in the KCNQ4 gene.

artículo científico publicado en 2011

Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2

artículo científico publicado en 2016

Bi-Allelic Novel Variants in CLIC5 Identified in a Cameroonian Multiplex Family with Non-Syndromic Hearing Impairment

artículo científico publicado en 2020

Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia

artículo científico publicado en 2021

COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis

artículo científico publicado en 2015

Centers for Mendelian Genomics: A decade of facilitating gene discovery

artículo científico publicado en 2022

Challenges and solutions for gene identification in the presence of familial locus heterogeneity

artículo científico publicado en 2014

ClinGen expert clinical validity curation of 164 hearing loss gene–disease pairs

artículo científico publicado en 2019

Collapsed haplotype pattern method for linkage analysis of next-generation sequence data

artículo científico publicado en 2015

Complex phenotypes and complex genetics: an introduction to genetic studies of complex traits

artículo científico publicado en 2005

Confirmation of the Role of DHX38 in the Etiology of Early-Onset Retinitis Pigmentosa

artículo científico publicado en 2018

Correction: Further evidence of involvement of TMEM132E in autosomal recessive nonsyndromic hearing impairment

scientific article published in 2021

DFNB39, a recessive form of sensorineural hearing impairment, maps to chromosome 7q11.22-q21.12.

artículo científico publicado en 2003

DFNB44, a novel autosomal recessive non-syndromic hearing impairment locus, maps to chromosome 7p14.1-q11.22.

artículo científico publicado en 2004

DFNB68, a novel autosomal recessive non-syndromic hearing impairment locus at chromosomal region 19p13.2.

artículo científico publicado en 2006

DFNB89, a novel autosomal recessive nonsyndromic hearing impairment locus on chromosome 16q21-q23.2.

artículo científico publicado en 2010

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

artículo científico publicado en 2021

Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency

scientific article published on 09 January 2020

Discovery of common and rare genetic risk variants for colorectal cancer

artículo científico publicado en 2018

Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss

artículo científico publicado en 2021

Disparities in discovery of pathogenic variants for autosomal recessive non-syndromic hearing impairment by ancestry

scientific article published on 03 May 2019

Ectodermal dysplasia of hair and nail type: mapping of a novel locus to chromosome 17p12-q21.2.

artículo científico publicado en 2006

Enrichment of colorectal cancer associations in functional regions: Insight for using epigenomics data in the analysis of whole genome sequence-imputed GWAS data

artículo científico publicado en 2017

Erratum: Corrigendum: Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants

scientific article published in Nature

Erratum: The Rare-Variant Generalized Disequilibrium Test for Association Analysis of Nuclear and Extended Pedigrees with Application to Alzheimer Disease WGS Data

artículo científico publicado en 2017

Estimating Genetic Effects and Quantifying Missing Heritability Explained by Identified Rare-Variant Associations ⬇️

artículo científico publicado el 27 de septiembre de 2012

Evolution and functional impact of rare coding variation from deep sequencing of human exomes

artículo científico publicado en 2012

Excess of rare, inherited truncating mutations in autism

artículo científico publicado en 2015

Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms

artículo científico publicado en 2011

Exome sequencing of families from Ghana reveals known and candidate hearing impairment genes

artículo científico publicado en 2022

Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability

artículo científico publicado en 2015

FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in Mice

artículo científico publicado en 2018

FOXE3 mutations predispose to thoracic aortic aneurysms and dissections.

artículo científico publicado en 2016

FUT2 Variants Confer Susceptibility to Familial Otitis Media

Fine-Mapping of Common Genetic Variants Associated with Colorectal Tumor Risk Identified Potential Functional Variants

artículo científico publicado en 2016

Fine-scale patterns of population stratification confound rare variant association tests

artículo científico publicado en 2013

From exomes to genomes: challenges and solutions in population-based genetic association studies

artículo científico publicado en 2017

Functional null mutations of MSRB3 encoding methionine sulfoxide reductase are associated with human deafness DFNB74

artículo científico publicado en 2010

Further evidence of involvement of TMEM132E in autosomal recessive nonsyndromic hearing impairment

scientific article published on 28 October 2019

GENOME-WIDE ASSOCIATION MAPPING AND RARE ALLELES: FROM POPULATION GENOMICS TO PERSONALIZED MEDICINE – Session Introduction ⬇️

artículo científico publicado el 1 de enero de 2011

Generation of sequence-based data for pedigree-segregating Mendelian or Complex traits

artículo científico publicado en 2015

Genes Implicated in Rare Congenital Inner Ear and Cochleovestibular Nerve Malformations

scientific article published on 24 January 2020

Genetic and physical mapping of the progressive epilepsy with mental retardation (EPMR) locus on chromosome 8p.

artículo científico publicado en 1996

Genetic variation responsible for mouse strain differences in integrin alpha 2 expression is associated with altered platelet responses to collagen

artículo científico publicado en 2004

Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1.

artículo científico publicado en 2011

Genome-wide association study of platelet aggregation in African Americans

artículo científico publicado en 2015

Genome-wide detection and characterization of positive selection in human populations

artículo científico publicado en 2007

Global Chromosomal Structural Instability in a Subpopulation of Starving Escherichia coli Cells ⬇️

artículo científico publicado el 25 de agosto de 2011

Guidelines for Large-Scale Sequence-Based Complex Trait Association Studies: Lessons Learned from the NHLBI Exome Sequencing Project

artículo científico publicado en 2016

Guidelines for investigating causality of sequence variants in human disease

artículo científico publicado en 2014

Hearing impairment locus heterogeneity and identification of PLS1 as a new autosomal dominant gene in Hungarian Roma

artículo científico publicado en 2019

Heritable Thoracic Aortic Disease Genes in Sporadic Aortic Dissection

artículo científico publicado en 2017

Heterozygosity mapping for human dominant trait variants

scientific article published on 24 April 2019

Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment

artículo científico publicado en 2010

Human genome-wide association and mouse knockout approaches identify platelet supervillin as an inhibitor of thrombus formation under shear stress

artículo científico publicado en 2012

Identification of ASAH1 as a susceptibility gene for familial keloids

artículo científico publicado en 2017

Identification of CACNA1D variants associated with sinoatrial node dysfunction and deafness in additional Pakistani families reveals a clinical significance

artículo científico publicado en 2018

Identifying rare variants associated with complex traits via sequencing

artículo científico publicado en 2013

Inheritance analysis of congenital left ventricular outflow tract obstruction malformations: Segregation, multiplex relative risk, and heritability.

artículo científico publicado en 2005

Is there a genetic susceptibility locus for Parkinson's disease on chromosome 22q13?

artículo científico publicado en 1997

LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections.

artículo científico publicado en 2016

LTBP3 Pathogenic Variants Predispose Individuals to Thoracic Aortic Aneurysms and Dissections.

artículo científico publicado en 2018

Linkage analysis of left ventricular outflow tract malformations (aortic valve stenosis, coarctation of the aorta, and hypoplastic left heart syndrome).

artículo científico publicado en 2009

Localization of a gene for keratoconus to a 5.6-Mb interval on 13q32.

artículo científico publicado en 2008

Localization of a novel autosomal recessive non-syndromic hearing impairment locus (DFNB38) to 6q26-q27 in a consanguineous kindred from Pakistan

artículo científico publicado en 2003

Localization of a novel autosomal recessive non-syndromic hearing impairment locus DFNB55 to chromosome 4q12-q13.2.

artículo científico publicado en 2005

Localization of a novel autosomal recessive nonsyndromic hearing impairment locus DFNB65 to chromosome 20q13.2-q13.32.

artículo científico publicado en 2006

Localization of a novel locus for alopecia with mental retardation syndrome to chromosome 3q26.33-q27.3.

artículo científico publicado en 2005

Localization of a novel locus for hereditary nail dysplasia to chromosome 17q25.1-17q25.3.

scientific article published on 01 July 2004

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

artículo científico publicado en 2011

Low prevalence of Connexin 26 (GJB2) variants in Pakistani families with autosomal recessive non-syndromic hearing impairment

artículo científico publicado en 2005

MAT2A mutations predispose individuals to thoracic aortic aneurysms

artículo científico publicado en 2014

MYLK pathogenic variants aortic disease presentation, pregnancy risk, and characterization of pathogenic missense variants

artículo científico publicado en 2018

Map error reduction: using genetic and sequence-based physical maps to order closely linked markers

artículo científico publicado en 2002

Mapping of a gene for alopecia with mental retardation syndrome (APMR3) on chromosome 18q11.2-q12.2.

artículo científico publicado en 2007

Mapping of a new autosomal recessive non-syndromic hearing impairment locus (DFNB45) to chromosome 1q43-q44.

artículo científico publicado en 2008

Mapping of a novel autosomal recessive nonsyndromic deafness locus (DFNB46) to chromosome 18p11.32-p11.31

artículo científico publicado en 2005

Maternal mosaicism underlies the inheritance of a rare germline AKT3 variant which is responsible for megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome in two Roma half-siblings

artículo científico publicado en 2020

MendelProb: probability and sample size calculations for Mendelian studies of exome and whole genome sequence data

artículo científico publicado en 2019

Missing heritability and strategies for finding the underlying causes of complex disease

artículo científico publicado en 2010

Mitochondrial DNA variant interactions modify breast cancer risk

artículo científico publicado en 2008

Mitochondrial genetic background modifies breast cancer risk

artículo científico publicado en 2007

Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP.

artículo científico publicado en 2016

Multi-omic studies on missense PLG variants in families with otitis media

scientific article published on 14 September 2020

Mutation of ATF6 causes autosomal recessive achromatopsia

artículo científico publicado en 2015

Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness

artículo científico publicado en 2016

Mutational and phenotypic spectra of KCNE1 deficiency in Jervell and Lange-Nielsen Syndrome and Romano-Ward Syndrome

artículo científico publicado en 2018

Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89

artículo científico publicado en 2013

Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86.

artículo científico publicado en 2014

Mutations in the Wolfram Syndrome Type 1 Gene (WFS1) Define a Clinical Entity of Dominant Low-Frequency Sensorineural Hearing Loss ⬇️

artículo científico publicado el 1 de abril de 2003

Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26).

artículo científico publicado en 2003

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

artículo científico publicado en 2008

Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p

artículo científico publicado en 2011

Nephropathic cystinosis (CTNS-LSB): construction of a YAC contig comprising the refined critical region on chromosome 17p13

scientific article published on 01 January 1997

Next generation analytic tools for large scale genetic epidemiology studies of complex diseases

artículo científico publicado en 2011

Noncoding mutations of HGF are associated with nonsyndromic hearing loss, DFNB39.

artículo científico publicado en 2009

Novel CLDN14 mutations in Pakistani families with autosomal recessive non-syndromic hearing loss.

artículo científico publicado en 2012

Novel OTOA mutations cause autosomal recessive non-syndromic hearing impairment in Pakistani families.

artículo científico publicado en 2012

Novel TMPRSS3 variants in Pakistani families with autosomal recessive non-syndromic hearing impairment

artículo científico publicado en 2011

Novel autosomal recessive non-syndromic hearing impairment locus (DFNB71) maps to chromosome 8p22-21.3.

artículo científico publicado en 2009

Novel autosomal recessive nonsyndromic hearing impairment locus DFNB90 maps to 7p22.1-p15.3.

artículo científico publicado en 2011

Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability

article

Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment

Novel missense and 3'-UTR splice site variants in LHFPL5 cause autosomal recessive nonsyndromic hearing impairment

artículo científico publicado en 2018

Novel missense mutations and a 288-bp exonic insertion in PAX9 in families with autosomal dominant hypodontia

scientific article published on 01 April 2003

Novel mutations in the genes TGM1 and ALOXE3 underlying autosomal recessive congenital ichthyosis

artículo científico publicado en 2015

Novel sequence variants in the TMC1 gene in Pakistani families with autosomal recessive hearing impairment.

artículo científico publicado en 2005

Novel sequence variants in the TMIE gene in families with autosomal recessive nonsyndromic hearing impairment.

artículo científico publicado en 2005

Novel somatic and germline mutations in intracranial germ cell tumours.

artículo científico publicado en 2014

Otitis media susceptibility and shifts in the head and neck microbiome due to SPINK5 variants

scientific article published on 24 July 2020

Pathogenic FBN1 variants in familial thoracic aortic aneurysms and dissections

artículo científico publicado en 2015

Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease

artículo científico publicado en 2013

PhenoMan: phenotypic data exploration, selection, management and quality control for association studies of rare and common variants

artículo científico publicado en 2013

Platelet microRNA-mRNA coexpression profiles correlate with platelet reactivity.

artículo científico publicado en 2011

Positive selection of a pre-expansion CAG repeat of the human SCA2 gene

artículo científico publicado en 2005

Power analysis and sample size estimation for sequence-based association studies

artículo científico publicado en 2014

RNF213 rare variants in an ethnically diverse population with Moyamoya disease

artículo científico publicado en 2014

Rare A2ML1 variants confer susceptibility to otitis media

artículo científico publicado en 2015

Rare copy number variants disrupt genes regulating vascular smooth muscle cell adhesion and contractility in sporadic thoracic aortic aneurysms and dissections

artículo científico publicado en 2010

Rare variant associations with waist-to-hip ratio in European-American and African-American women from the NHLBI-Exome Sequencing Project

artículo científico publicado en 2016

Rare variation facilitates inferences of fine-scale population structure in humans

artículo científico publicado en 2014

Rare-variant extensions of the transmission disequilibrium test: application to autism exome sequence data

artículo científico publicado en 2013

Recurrent chromosome 16p13.1 duplications are a risk factor for aortic dissections

artículo científico publicado en 2011

Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections

artículo científico publicado en 2013

Replication Strategies for Rare Variant Complex Trait Association Studies via Next-Generation Sequencing ⬇️

artículo científico publicado el 10 de diciembre de 2010

SEQSpark: A Complete Analysis Tool for Large-Scale Rare Variant Association Studies Using Whole-Genome and Exome Sequence Data

artículo científico publicado en 2017

SMAD3 pathogenic variants: risk for thoracic aortic disease and associated complications from the Montalcino Aortic Consortium

artículo científico publicado en 2019

Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous families.

artículo científico publicado en 2017

Shared Genetic Risk Factors of Intracranial, Abdominal, and Thoracic Aneurysms

artículo científico publicado en 2016

SimRare: a program to generate and analyze sequence-based data for association studies of quantitative and qualitative traits

artículo científico publicado en 2012

Sleepwalking and Sleep Paralysis: Prevalence in Colombian Families With Genetic Generalized Epilepsy

scientific article published on 23 April 2019

Splice-site mutations in the TRIC gene underlie autosomal recessive nonsyndromic hearing impairment in Pakistani families.

artículo científico publicado en 2007

Splicing Characteristics of Dystrophin Pseudoexons and Identification of a Novel Pathogenic Intronic Variant in the DMD Gene

artículo científico publicado en 2020

TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome

artículo científico publicado en 2012

TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities

scientific article published on 27 June 2013

Targeted genomic enrichment and massively parallel sequencing identifies novel nonsyndromic hearing impairment pathogenic variants in Cameroonian families.

scientific article published on June 2016

Terminal osseous dysplasia with pigmentary defects (TODPD): Follow-up of the first reported family, characterization of the radiological phenotype, and refinement of the linkage region

artículo científico publicado en 2010

Testing for Rare Variant Associations in the Presence of Missing Data ⬇️

artículo científico publicado el 11 de junio de 2013

The Rare-Variant Generalized Disequilibrium Test for Association Analysis of Nuclear and Extended Pedigrees with Application to Alzheimer Disease WGS Data

artículo científico publicado en 2017

The SLC26A4 c.706C>G (p.Leu236Val) Variant is a Frequent Cause of Hearing Impairment in Filipino Cochlear Implantees

artículo científico publicado en 2018

The chicken frizzle feather is due to an α-keratin (KRT75) mutation that causes a defective rachis

artículo científico publicado en 2012

The effect of phenotypic outliers and non-normality on rare-variant association testing

artículo científico publicado en 2016

The genetic contribution of the X chromosome in age-related hearing loss

scientific article published in 2023

The genetics of colored sequence synesthesia: suggestive evidence of linkage to 16q and genetic heterogeneity for the condition.

artículo científico publicado en 2011

The map problem: a comparison of genetic and sequence-based physical maps

artículo científico publicado en 2001

The mapping of DFNB62, a new locus for autosomal recessive non-syndromic hearing impairment, to chromosome 12p13.2-p11.23

artículo científico publicado en 2006

The role of CDHR3 in susceptibility to otitis media

artículo científico publicado en 2021

Type 1 diabetes loci display a variety of native American and African ancestries in diseased individuals from Northwest Colombia

scientific article published on 01 November 2019

VAMP8/endobrevin is overexpressed in hyperreactive human platelets: suggested role for platelet microRNA

artículo científico publicado en 2010

Variant association tools for quality control and analysis of large-scale sequence and genotyping array data

artículo científico publicado en 2014

Variants in the APOA5 gene region and the response to combination therapy with statins and fenofibric acid in a randomized clinical trial of individuals with mixed dyslipidemia

article

[An analysis of the fundus changes in families with high myopia]

artículo científico publicado en 2007

Dominio Público Uruguay está sostenido por:

Acerca de Dominio Público Uruguay

Ayuda