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Cellular and Molecular Life Sciences : CMLS|April 17, 2024
Dodecyl creatine ester therapy: from promise to realityAloïse Mabondzo, Jiddeke van de Kamp, Saadet Mercimek-AndrewsClinical Dysmorphology|February 26, 2015
An interstitial de-novo microdeletion of 3q26.33q27.3 causing severe intrauterine growth retardationArjan Bouman, Marjan Weiss, Sandra Jansen, et al.American Journal of Medical Genetics. Part A|March 14, 2007
Manitoba Oculotrichoanal (MOTA) syndrome: report of eight new casesChumei Li, Sandra L Marles, Cheryl R Greenberg, et al.Clinical Genetics|June 18, 2026
USP34 Haploinsufficiency as a Cause of Neurodevelopmental PhenotypesHelena Wigoda, Amjad Khan, Bryce A Mendelsohn, et al.Cardiology in the Young|June 17, 2014
ELN gene triplication responsible for familial supravalvular aortic aneurysmAnne-Sophie Guemann, Joris Andrieux, Florence Petit, et al.American Journal of Human Genetics|November 20, 2025
Genetic variants in ESRRG are associated with a dominant non-progressive congenital movement disorder with ataxiaBrandon Bresack, Laura Renée Kohl, Alexandra Afenjar, et al.Journal of Medical Genetics|April 15, 2016
A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotypeGea Beunders, Jiddeke van de Kamp, Pradeep Vasudevan, et al.Human Genetics|December 12, 2018
De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairmentJeroen J Smits, Jaap Oostrik, Andy J Beynon, et al.American Journal of Human Genetics|October 13, 2006
Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome)Martin Hrebícek, Lenka Mrázová, Volkan Seyrantepe, et al.Human Genetics|May 1, 2024
The natural history and genotype-phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysisBrett M Colbert, Cris Lanting, Molly Smeal, et al.Pageof 2