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Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss

PloS one, 2012-11, Vol.7 (11), p.e50628-e50628

2012

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Homozygous Mutations in Fibroblast Growth Factor 3 Are Associated with a New Form of Syndromic Deafness Characterized by Inner Ear Agenesis, Microtia, and Microdontia

American journal of human genetics, 2007-02, Vol.80 (2), p.338-344

2007

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Hypophosphatasia: is it an underdiagnosed disease even by expert physicians?

Journal of bone and mineral metabolism, 2021-07, Vol.39 (4), p.598-605

2021

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A Turkish case of incontinentia pigmenti with a deletion mutation at Inhibitor of kappa B kinase gamma gene

The Egyptian journal of medical human genetics, 2022-01, Vol.23 (1), p.6

2022

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HPSE2 Mutations in Urofacial Syndrome, Non-Neurogenic Neurogenic Bladder and Lower Urinary Tract Dysfunction

Nephron (2015), 2015-01, Vol.130 (1), p.54-58

2015

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Familial neonatal Marfan syndrome due to parental mosaicism of a missense mutation in the FBN1 gene

American journal of medical genetics. Part A, 2007-04, Vol.143A (8), p.875-880

2007

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Correction: Whole-Exome Sequencing Efficiently Detects Rare Mutations in Autosomal Recessive Nonsyndromic Hearing Loss

PloS one, 2013-05, Vol.8 (5)

2013

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Mutations in TMC1 contribute significantly to nonsyndromic autosomal recessive sensorineural hearing loss: A report of five novel mutations

International journal of pediatric otorhinolaryngology, 2009-05, Vol.73 (5), p.699-705

2009

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

PloS one, 2018-11, Vol.13 (11), p.e0208324-e0208324

2018

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SLC26A4 mutations are associated with a specific inner ear malformation

International journal of pediatric otorhinolaryngology, 2007-03, Vol.71 (3), p.479-486

2007

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A possibly new autoinflammatory disease due to compound heterozygous phosphomevalonate kinase gene mutation

Joint, bone, spine : revue du rhumatisme, 2023-01, Vol.90 (1), p.105490, Article 105490

2023

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The first case with FBXL4 mutation successfully treated with a parenteral ketogenic diet for lactic acidosis

JPEN. Journal of parenteral and enteral nutrition, 2021-11, Vol.45 (8), p.1788-1792

2021

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Dominant deafness–onychodystrophy syndrome caused by an ATP6V1B2 mutation

Clinical case reports, 2017-04, Vol.5 (4), p.376-379

2017

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GJB2 Mutations in Mongolia: Complex Alleles, Low Frequency, and Reduced Fitness of the Deaf

Annals of human genetics, 2010-03, Vol.74 (2), p.155-164

2010

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

Genetic testing and molecular biomarkers, 2014-09, Vol.18 (9), p.658

2014

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Expected or unexpected clinical findings in liver glycogen storage disease type IX: distinct clinical and molecular variability

Journal of pediatric endocrinology & metabolism : JPEM, 2022-04, Vol.35 (4), p.451

2022

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Monosomy chromosome 21 compensated by 21q22.11q22.3 duplication in a case with small size and minor anomalies

Molecular cytogenetics, 2018-08, Vol.11 (1), p.43-6, Article 43

2018

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Dominant deafness–onychodystrophy syndrome caused by an ATP 6V1B2 mutation

Clinical case reports, 2017-04, Vol.5 (4), p.376-379

2017

Volltextzugriff (PDF)

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

Proceedings of the National Academy of Sciences - PNAS, 2019-01, Vol.116 (4), p.1347-1352

2019

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Novel EYA1 Variants Causing Branchio-Oto-Renal Syndrome

International journal of pediatric otorhinolaryngology, 2017-07, Vol.98, p.59-63

2017

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Audiological findings in Noonan syndrome

International journal of pediatric otorhinolaryngology, 2016-10, Vol.89, p.50-54

2016

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

International journal of pediatric otorhinolaryngology, 2017-10, Vol.101, p.167-171

2017

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A FGF3 mutation associated with differential inner ear malformation, microtia, and microdontia

The Laryngoscope, 2010-02, Vol.120 (2), p.359-364

2010

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Familial neonatal Marfan syndrome due to parental mosaicism of a missense mutation in the FBN1 gene

American Journal of Medical Genetics Part A, 2007, Vol.143A (8), p.875-880

2007

Volltextzugriff (PDF)

Dominant deafness-onychodystrophy syndrome caused by an ATP6V1B2 mutation

Clinical case reports, 2017, Vol.5 (4), p.376-379

2017

Volltextzugriff (PDF)

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Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss

Homozygous Mutations in Fibroblast Growth Factor 3 Are Associated with a New Form of Syndromic Deafness Characterized by Inner Ear Agenesis, Microtia, and Microdontia

Hypophosphatasia: is it an underdiagnosed disease even by expert physicians?

A Turkish case of incontinentia pigmenti with a deletion mutation at Inhibitor of kappa B kinase gamma gene

HPSE2 Mutations in Urofacial Syndrome, Non-Neurogenic Neurogenic Bladder and Lower Urinary Tract Dysfunction

Familial neonatal Marfan syndrome due to parental mosaicism of a missense mutation in the FBN1 gene

Correction: Whole-Exome Sequencing Efficiently Detects Rare Mutations in Autosomal Recessive Nonsyndromic Hearing Loss

Mutations in TMC1 contribute significantly to nonsyndromic autosomal recessive sensorineural hearing loss: A report of five novel mutations

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

SLC26A4 mutations are associated with a specific inner ear malformation

A possibly new autoinflammatory disease due to compound heterozygous phosphomevalonate kinase gene mutation

The first case with FBXL4 mutation successfully treated with a parenteral ketogenic diet for lactic acidosis

Dominant deafness–onychodystrophy syndrome caused by an ATP6V1B2 mutation

GJB2 Mutations in Mongolia: Complex Alleles, Low Frequency, and Reduced Fitness of the Deaf

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

Expected or unexpected clinical findings in liver glycogen storage disease type IX: distinct clinical and molecular variability

Monosomy chromosome 21 compensated by 21q22.11q22.3 duplication in a case with small size and minor anomalies

Dominant deafness–onychodystrophy syndrome caused by an ATP 6V1B2 mutation

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

Novel EYA1 Variants Causing Branchio-Oto-Renal Syndrome

Audiological findings in Noonan syndrome

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

A FGF3 mutation associated with differential inner ear malformation, microtia, and microdontia

Familial neonatal Marfan syndrome due to parental mosaicism of a missense mutation in the FBN1 gene

Dominant deafness-onychodystrophy syndrome caused by an ATP6V1B2 mutation

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