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Orphanet Journal of Rare Diseases|March 25, 2009
Sheldon-Hall syndromeReha M Toydemir, Michael J BamshadAJOB Empirical Bioethics|July 22, 2026
Capturing Perceived Utility from Qualitative Studies of Genomic Sequencing: Translating a Conceptual Model into a Working CodebookBetty Cohn, Tesla Theoryn, Olivia Sommerland, et al.Seminars in Pediatric Neurology|September 26, 2009
Joubert syndrome: insights into brain development, cilium biology, and complex diseaseDan DohertyAmerican Journal of Medical Genetics. Part C, Seminars in Medical Genetics|March 28, 2018
Genetic counselors on the frontline of precision healthMichael J Bamshad, Pilar L Magoulas, Karin M DentAmerican Journal of Medical Genetics. Part A|March 9, 2007
Pulmonary disease is a component of distal arthrogryposis type 5Marc S Williams, C Gregory Elliott, Michael J BamshadAmerican Journal of Human Genetics|September 7, 2019
Mendelian Gene Discovery: Fast and Furious with No End in SightMichael J Bamshad, Deborah A Nickerson, Jessica X ChongSeminars in Fetal & Neonatal Medicine|May 11, 2016
The genetics of cerebellar malformationsKimberly A Aldinger, Dan DohertyHuman Molecular Genetics|September 18, 2010
Massively parallel sequencing and rare diseaseSarah B Ng, Deborah A Nickerson, Michael J Bamshad, et al.American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|May 20, 2014
Cerebellar hypoplasia: differential diagnosis and diagnostic approachAndrea Poretti, Eugen Boltshauser, Dan DohertyAmerican Journal of Human Genetics|October 4, 2014
Characteristics of neutral and deleterious protein-coding variation among individuals and populationsWenqing Fu, Rachel M Gittelman, Michael J Bamshad, et al.Pageof 36