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Wim Wuyts

Showing results (111-120 of 135) with videos related to

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Journal of Medical Genetics|June 24, 2016
Novel <i>LMNA</i> mutations cause an aggressive atypical neonatal progeria without progerin accumulationClara Soria-Valles, Dido Carrero, Elisabeth Gabau, et al.
Human Mutation|April 13, 2016
DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification SystemManou Sommen, Isabelle Schrauwen, Geert Vandeweyer, et al.
Journal of Medical Genetics|October 14, 2022
Heterozygous pathogenic variants involving <i>CBFB</i> cause a new skeletal disorder resembling cleidocranial dysplasiaTessi Beyltjens, Eveline Boudin, Nicole Revencu, et al.
ERJ Open Research|November 6, 2019
Results of the standard set for pulmonary sarcoidosis: feasibility and multicentre outcomesNynke A Kampstra, Paul B van der Nat, Lea M Dijksman, et al.
Aging Cell|April 21, 2026
Telomere Dysfunction and Proteostasis Decline Define Distinct Pathways of Cellular Senescence in the Human Respiratory TractCéline Coquette, Kamar Bouchoucha, Manon Mahieu, et al.
Circulation. Cardiovascular Genetics|May 13, 2015
Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac AnomaliesLaura Southgate, Maja Sukalo, Anastasios S V Karountzos, et al.
American Journal of Human Genetics|May 14, 2011
Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomaliesLaura Southgate, Rajiv D Machado, Katie M Snape, et al.
The Lancet. Respiratory Medicine|December 13, 2016
Efficacy of simtuzumab versus placebo in patients with idiopathic pulmonary fibrosis: a randomised, double-blind, controlled, phase 2 trialGanesh Raghu, Kevin K Brown, Harold R Collard, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 16, 2016
Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissectionsJosephina A N Meester, Geert Vandeweyer, Isabel Pintelon, et al.
Investigative Ophthalmology & Visual Science|October 1, 2010
Expanding the spectrum of FOXC1 and PITX2 mutations and copy number changes in patients with anterior segment malformationsBarbara D'haene, Françoise Meire, Ilse Claerhout, et al.
Pageof 14

Showing results (111-120 of 135) with videos related to

Sort By:
Pageof 14
Journal of Medical Genetics|June 24, 2016
Novel <i>LMNA</i> mutations cause an aggressive atypical neonatal progeria without progerin accumulationClara Soria-Valles, Dido Carrero, Elisabeth Gabau, et al.
Human Mutation|April 13, 2016
DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification SystemManou Sommen, Isabelle Schrauwen, Geert Vandeweyer, et al.
Journal of Medical Genetics|October 14, 2022
Heterozygous pathogenic variants involving <i>CBFB</i> cause a new skeletal disorder resembling cleidocranial dysplasiaTessi Beyltjens, Eveline Boudin, Nicole Revencu, et al.
ERJ Open Research|November 6, 2019
Results of the standard set for pulmonary sarcoidosis: feasibility and multicentre outcomesNynke A Kampstra, Paul B van der Nat, Lea M Dijksman, et al.
Aging Cell|April 21, 2026
Telomere Dysfunction and Proteostasis Decline Define Distinct Pathways of Cellular Senescence in the Human Respiratory TractCéline Coquette, Kamar Bouchoucha, Manon Mahieu, et al.
Circulation. Cardiovascular Genetics|May 13, 2015
Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac AnomaliesLaura Southgate, Maja Sukalo, Anastasios S V Karountzos, et al.
American Journal of Human Genetics|May 14, 2011
Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomaliesLaura Southgate, Rajiv D Machado, Katie M Snape, et al.
The Lancet. Respiratory Medicine|December 13, 2016
Efficacy of simtuzumab versus placebo in patients with idiopathic pulmonary fibrosis: a randomised, double-blind, controlled, phase 2 trialGanesh Raghu, Kevin K Brown, Harold R Collard, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 16, 2016
Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissectionsJosephina A N Meester, Geert Vandeweyer, Isabel Pintelon, et al.
Investigative Ophthalmology & Visual Science|October 1, 2010
Expanding the spectrum of FOXC1 and PITX2 mutations and copy number changes in patients with anterior segment malformationsBarbara D'haene, Françoise Meire, Ilse Claerhout, et al.
Pageof 14