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Genetic Testing and Molecular Biomarkers|June 26, 2010
Identification of PKHD1 multiexon deletions using multiplex ligation-dependent probe amplification and quantitative polymerase chain reactionVal Zvereff, Suxia Yao, Julia Ramsey, et al.
The Journal of Craniofacial Surgery|September 22, 2010
Use of array comparative genome hybridization in orofacial cleftingCarlos J Gallego, John Grant, Fady M Mikhail, et al.
Pediatric Neurology|September 13, 2011
Monosomy1p36.3 and trisomy 19p13.3 in a child with periventricular nodular heterotopiaMaria Descartes, Fady M Mikhail, Judith C Franklin, et al.
The Journal of Pediatrics|September 10, 2014
Incidental detection of cancer predisposition gene copy number variations by array comparative genomic hybridizationJ Austin Hamm, Fady M Mikhail, Dana Hollenbeck, et al.
Physiological Reports|June 22, 2019
Pyridine nucleotide regulation of hepatic endoplasmic reticulum calcium uptakeXudong Wang, Gail Mick, Kenneth McCormick
Clinical Case Reports|April 12, 2018
A case report of chromosome 17q22-qter trisomy with distinct clinical presentation and review of the literatureJariya Upadia, Joseph B Philips, Nathaniel H Robin, et al.
American Journal of Medical Genetics. Part A|February 25, 2015
Sex-discordant monochorionic twins with blood and tissue chimerismDavid Rodriguez-Buritica, Kitiwan Rojnueangnit, Ludwine M Messiaen, et al.
Molecular Genetics & Genomic Medicine|June 29, 2019
Menkes disease complicated by concurrent Koolen-de Vries syndrome (17q21.31 deletion)Taylor Woodfin, Christine Stoops, Joseph B Philips, et al.
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