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The Journal of Molecular Diagnostics : JMD|August 25, 2012
Opportunities and challenges associated with clinical diagnostic genome sequencing: a report of the Association for Molecular PathologyIris Schrijver, Nazneen Aziz, Daniel H Farkas, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 17, 2012
Exploring concordance and discordance for return of incidental findings from clinical sequencingRobert C Green, Jonathan S Berg, Gerard T Berry, et al.
The Journal of Molecular Diagnostics : JMD|September 22, 2009
Development and characterization of reference materials for MTHFR, SERPINA1, RET, BRCA1, and BRCA2 genetic testingShannon D Barker, Sherri Bale, Jessica Booker, et al.
JAMA|October 19, 2014
Clinical exome sequencing for genetic identification of rare Mendelian disordersHane Lee, Joshua L Deignan, Naghmeh Dorrani, et al.
Journal of Molecular Medicine (Berlin, Germany)|August 13, 2021
Recessive ciliopathy mutations in primary endocardial fibroelastosis: a rare neonatal cardiomyopathy in a case of Alstrom syndromeYan Zhao, Lee-Kai Wang, Ascia Eskin, et al.
Human Mutation|November 7, 2019
A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disordersKathie J Ngo, Jessica E Rexach, Hane Lee, et al.
Journal of Electrocardiology|February 5, 2019
Home use of a compact, 12‑lead ECG recording system for newbornsHenry J Lin, Yueh-Tze Lan, Michael J Silka, et al.
European Journal of Human Genetics : EJHG|May 7, 2015
DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct faciesJianling Ji, Hane Lee, Bob Argiropoulos, et al.
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