Showing results (31-40 of 145) with videos related to
Sort By:
Pageof 15
The Journal of Clinical Investigation|April 1, 2022
Lessons learned: next-generation sequencing applied to undiagnosed genetic diseasesBryce A Schuler, Erica T Nelson, Mary Koziura, et al.Endocrinology|February 28, 2004
GH1 splicing is regulated by multiple enhancers whose mutation produces a dominant-negative GH isoform that can be degraded by allele-specific small interfering RNA (siRNA)Robin C C Ryther, Alex S Flynt, Bryan D Harris, et al.American Journal of Medical Genetics. Part A|December 30, 2021
Efficacy of virtual and asynchronous teaching of computer-assisted diagnosis of genetic diseases seen in clinicsMary Grace Hash, Philip D Walker, Heather E Laferriere, et al.American Journal of Medical Genetics. Part A|January 8, 2021
Clinical diagnosis of neurofibromatosis type I in multiple family members due to cosegregation of a unique balanced translocation with disruption of the NF1 locus: Testing considerations for accurate diagnosisRebecca B Smith, Emily P Solem, Emma C Metz, et al.Endocrinology|November 17, 2007
Rescue of pituitary function in a mouse model of isolated growth hormone deficiency type II by RNA interferenceNikki Shariat, Robin C C Ryther, John A Phillips, et al.Dysmorphology and Clinical Genetics : Official Publication of the Center for Birth Defects Information Services, Inc|February 7, 2017
FAMILIAL LARYNGEAL WEB IN THREE GENERATIONS WITH PROBABLE AUTOSOMAL DOMINANT TRANSMISSIONStephen M Strakowski, Merlin G Butler, James W Cheek, et al.American Journal of Human Genetics|September 16, 2021
Identifying digenic disease genes via machine learning in the Undiagnosed Diseases NetworkSouhrid Mukherjee, Joy D Cogan, John H Newman, et al.American Journal of Medical Genetics. Part A|January 16, 2024
Data from electronic healthcare records expand our understanding of X-linked genetic diseasesRory J Tinker, Lisa Bastarache, Kimberly Ezell, et al.Transactions of the Royal Society of Tropical Medicine and Hygiene|December 21, 2010
Burkitt's lymphoma: maximising the use of fine needle aspirates by long-term preservation for diagnosis and researchSusan Van Noorden, Irvin A Lampert, Shao-An Xue, et al.Human Mutation|February 12, 2009
Penetrance of pulmonary arterial hypertension is modulated by the expression of normal BMPR2 alleleRizwan Hamid, Joy D Cogan, Lora K Hedges, et al.Pageof 15