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Nature Genetics|February 18, 2014
A SWI/SNF-related autism syndrome caused by de novo mutations in ADNPCéline Helsmoortel, Anneke T Vulto-van Silfhout, Bradley P Coe, et al.European Journal of Human Genetics : EJHG|February 23, 2017
Diagnostic exome sequencing in 266 Dutch patients with visual impairmentLonneke Haer-Wigman, Wendy Ag van Zelst-Stams, Rolph Pfundt, et al.European Journal of Human Genetics : EJHG|May 16, 2022
Recommendations for whole genome sequencing in diagnostics for rare diseasesErika Souche, Sergi Beltran, Erwin Brosens, et al.European Journal of Human Genetics : EJHG|November 27, 2014
Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrationsCharlotte W Ockeloen, Marjolein H Willemsen, Sonja de Munnik, et al.Human Genetics|May 14, 2018
Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunctionMieke Wesdorp, Pia A M de Koning Gans, Margit Schraders, et al.European Journal of Human Genetics : EJHG|September 16, 2022
The performance of genome sequencing as a first-tier test for neurodevelopmental disordersBart P G H van der Sanden, Gaby Schobers, Jordi Corominas Galbany, et al.Nature Genetics|May 1, 2012
Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndromeDavid A Koolen, Jamie M Kramer, Kornelia Neveling, et al.American Journal of Human Genetics|July 3, 2018
MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and MouseMieke Wesdorp, Silvia Murillo-Cuesta, Theo Peters, et al.Genome Medicine|February 14, 2024
Genome sequencing as a generic diagnostic strategy for rare diseaseGaby Schobers, Ronny Derks, Amber den Ouden, et al.Human Mutation|January 16, 2007
Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortiumArjan P M de Brouwer, Helger G Yntema, Tjitske Kleefstra, et al.Pageof 12