Lista de obras - D Duman - Dominio Público Uruguay

A truncating CLDN9 variant is associated with autosomal recessive nonsyndromic hearing loss

artículo científico publicado en 2019

Adams-Oliver syndrome caused by mutations of the EOGT gene

artículo científico publicado en 2019

Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort

artículo científico publicado en 2015

Dysfunction of GRAP, encoding the GRB2-related adaptor protein, is linked to sensorineural hearing loss

scientific article published on 04 January 2019

Evidence for genotype-phenotype correlation for OTOF mutations

artículo científico publicado en 2014

FAM65B is a membrane-associated protein of hair cell stereocilia required for hearing.

artículo científico publicado en 2014

FOXF2 is required for cochlear development in humans and mice

artículo científico publicado en 2019

Genetic Causes of Inner Ear Anomalies: a Review from the Turkish Study Group for Inner Ear Anomalies

artículo científico publicado en 2019

HPSE2 mutations in urofacial syndrome, non-neurogenic neurogenic bladder and lower urinary tract dysfunction.

artículo científico publicado en 2015

Identification of candidate gene FAM183A and novel pathogenic variants in known genes: High genetic heterogeneity for autosomal recessive intellectual disability

artículo científico publicado en 2018

Identification of copy number variants through whole-exome sequencing in autosomal recessive nonsyndromic hearing loss.

artículo científico publicado en 2014

MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss

article

Novel EYA1 variants causing Branchio-oto-renal syndrome

artículo científico publicado en 2017

Novel pathogenic variants underlie SLC26A4-related hearing loss in a multiethnic cohort

artículo científico publicado en 2017

Novel variant p.E269K confirms causative role of PLS1 mutations in autosomal dominant hearing loss

scientific article published on 27 August 2019

ROR1 is essential for proper innervation of auditory hair cells and hearing in humans and mice.

artículo científico publicado en 2016

Research of genetic bases of hereditary non-syndromic hearing loss.

artículo científico publicado en 2017

Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents.

artículo científico publicado en 2016

Variants in CIB2 cause DFNB48 and not USH1J.

artículo científico publicado en 2017

Variations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing Loss

artículo científico publicado en 2016

Lista de obras de D Duman

A truncating CLDN9 variant is associated with autosomal recessive nonsyndromic hearing loss

Adams-Oliver syndrome caused by mutations of the EOGT gene

Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort

Dysfunction of GRAP, encoding the GRB2-related adaptor protein, is linked to sensorineural hearing loss

Evidence for genotype-phenotype correlation for OTOF mutations

FAM65B is a membrane-associated protein of hair cell stereocilia required for hearing.

FOXF2 is required for cochlear development in humans and mice

Genetic Causes of Inner Ear Anomalies: a Review from the Turkish Study Group for Inner Ear Anomalies

HPSE2 mutations in urofacial syndrome, non-neurogenic neurogenic bladder and lower urinary tract dysfunction.

Identification of candidate gene FAM183A and novel pathogenic variants in known genes: High genetic heterogeneity for autosomal recessive intellectual disability

Identification of copy number variants through whole-exome sequencing in autosomal recessive nonsyndromic hearing loss.

MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss

Novel EYA1 variants causing Branchio-oto-renal syndrome

Novel pathogenic variants underlie SLC26A4-related hearing loss in a multiethnic cohort

Novel variant p.E269K confirms causative role of PLS1 mutations in autosomal dominant hearing loss

ROR1 is essential for proper innervation of auditory hair cells and hearing in humans and mice.

Research of genetic bases of hereditary non-syndromic hearing loss.

Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents.

Variants in CIB2 cause DFNB48 and not USH1J.

Variations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing Loss