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Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families

PloS one, 2017-01, Vol.12 (1), p.e0170038-e0170038

2017

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Response to: Correspondence on “Outcomes in patients with moderate and asymptomatic severe aortic stenosis followed up in heart valve clinics” by José Alberto San Román

Heart (British Cardiac Society), 2023-09, Vol.109 (17), p.1338-1338

Van Camp, Guy

2023

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Risk of Cardiac Valve Regurgitation with Dopamine Agonist use in Parkinson’s Disease and Hyperprolactinaemia: A Multi-Country, Nested Case-Control Study

Drug safety, 2012-02, Vol.35 (2), p.159-171

2012

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Prolonged Right Ventricular Ejection Delay in Brugada Syndrome Depends on the Type of SCN5A Variant　― Electromechanical Coupling Through Tissue Velocity Imaging as a Bridge Between Genotyping and Phenotyping

Circulation Journal, 2017/12/25, Vol.82(1), pp.53-61

2018

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A Mutation in CABP2, Expressed in Cochlear Hair Cells, Causes Autosomal-Recessive Hearing Impairment

American journal of human genetics, 2012-10, Vol.91 (4), p.636-645

2012

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Disturbing effect of lockdown for COVID-19 on the incidence of infective endocarditis: a word of caution

Clinical research in cardiology, 2020-12, Vol.109 (12), p.1573-1576

2020

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A New Autosomal Recessive Form of Stickler Syndrome Is Caused by a Mutation in the COL9A1 Gene

American journal of human genetics, 2006-09, Vol.79 (3), p.449-457

2006

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A Mutation in HOXA2 Is Responsible for Autosomal-Recessive Microtia in an Iranian Family

American journal of human genetics, 2008-04, Vol.82 (4), p.982-991

2008

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Characteristic ERK1/2 signaling dynamics distinguishes necroptosis from apoptosis

iScience, 2021-09, Vol.24 (9), p.103074-103074, Article 103074

2021

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Nano-targeted induction of dual ferroptotic mechanisms eradicates high-risk neuroblastoma

The Journal of clinical investigation, 2018-08, Vol.128 (8), p.3341-3355

2018

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GSDME and its role in cancer: From behind the scenes to the front of the stage

International journal of cancer, 2021-06, Vol.148 (12), p.2872-2883

2021

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Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease

Human mutation, 2003-10, Vol.22 (4), p.275-287

2003

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Molecular diagnostics for congenital hearing loss including 15 deafness genes using a next generation sequencing platform

BMC medical genomics, 2012-05, Vol.5 (1), p.17-17, Article 17

2012

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Unique autosomal recessive variant of palmoplantar keratoderma associated with hearing loss not caused by known mutations

Anais brasileiros de dermatología, 2017, Vol.92 (5 Suppl 1), p.154-158

2017

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Possible Association Between 3,4-Methylenedioxymethamphetamine Abuse and Valvular Heart Disease

The American journal of cardiology, 2007-11, Vol.100 (9), p.1442-1445

2007

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The Genetic Landscape of Malignant Pleural Mesothelioma: Results from Massively Parallel Sequencing

Journal of thoracic oncology, 2016-10, Vol.11 (10), p.1615-1626

2016

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Outcomes in patients with moderate and asymptomatic severe aortic stenosis followed up in heart valve clinics

Heart (British Cardiac Society), 2023-04, Vol.109 (8), p.634-642

2023

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Effects of Valve Replacement for Aortic Stenosis on Mitral Regurgitation

The American journal of cardiology, 2008-11, Vol.102 (10), p.1378-1382

2008

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Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia

American journal of human genetics, 2016-07, Vol.99 (1), p.174-187

2016

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Genetics of otosclerosis: finally catching up with other complex traits?

Human genetics, 2022-04, Vol.141 (3-4), p.939-950

2022

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Nonmuscle Myosin Heavy-Chain Gene MYH14 Is Expressed in Cochlea and Mutated in Patients Affected by Autosomal Dominant Hearing Impairment (DFNA4)

American journal of human genetics, 2004-04, Vol.74 (4), p.770-776

2004

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A Dominant-Negative GFI1B Mutation in the Gray Platelet Syndrome

The New England journal of medicine, 2014-01, Vol.370 (3), p.245-253

2014

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The etiology of otosclerosis: A combination of genes and environment

The Laryngoscope, 2010-06, Vol.120 (6), p.1195-1202

2010

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Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families

Response to: Correspondence on “Outcomes in patients with moderate and asymptomatic severe aortic stenosis followed up in heart valve clinics” by José Alberto San Román

Risk of Cardiac Valve Regurgitation with Dopamine Agonist use in Parkinson’s Disease and Hyperprolactinaemia: A Multi-Country, Nested Case-Control Study

Prolonged Right Ventricular Ejection Delay in Brugada Syndrome Depends on the Type of SCN5A Variant　― Electromechanical Coupling Through Tissue Velocity Imaging as a Bridge Between Genotyping and Phenotyping

A Mutation in CABP2, Expressed in Cochlear Hair Cells, Causes Autosomal-Recessive Hearing Impairment

Disturbing effect of lockdown for COVID-19 on the incidence of infective endocarditis: a word of caution

Marine Seagrass Extract of Thalassia testudinum Suppresses Colorectal Tumor Growth, Motility and Angiogenesis by Autophagic Stress and Immunogenic Cell Death Pathways

A New Autosomal Recessive Form of Stickler Syndrome Is Caused by a Mutation in the COL9A1 Gene

A Mutation in HOXA2 Is Responsible for Autosomal-Recessive Microtia in an Iranian Family

Characteristic ERK1/2 signaling dynamics distinguishes necroptosis from apoptosis

Nano-targeted induction of dual ferroptotic mechanisms eradicates high-risk neuroblastoma

GSDME and its role in cancer: From behind the scenes to the front of the stage

Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease

Molecular diagnostics for congenital hearing loss including 15 deafness genes using a next generation sequencing platform

Unique autosomal recessive variant of palmoplantar keratoderma associated with hearing loss not caused by known mutations

Population distribution and ancestry of the cancer protective MDM2 SNP285 (rs117039649)

Possible Association Between 3,4-Methylenedioxymethamphetamine Abuse and Valvular Heart Disease

The Genetic Landscape of Malignant Pleural Mesothelioma: Results from Massively Parallel Sequencing

Outcomes in patients with moderate and asymptomatic severe aortic stenosis followed up in heart valve clinics

Effects of Valve Replacement for Aortic Stenosis on Mitral Regurgitation

Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia

Genetics of otosclerosis: finally catching up with other complex traits?

Nonmuscle Myosin Heavy-Chain Gene MYH14 Is Expressed in Cochlea and Mutated in Patients Affected by Autosomal Dominant Hearing Impairment (DFNA4)

A Dominant-Negative GFI1B Mutation in the Gray Platelet Syndrome

The etiology of otosclerosis: A combination of genes and environment

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