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Journal of the American Medical Informatics Association : JAMIA|September 4, 2025
Navigating the landscape of personalized oncology: overcoming challenges and expanding horizons with computational modelingMelike Sirlanci, David Albers, Jennifer Kwak, et al.
European Journal of Human Genetics : EJHG|June 26, 2019
Update of the EMQN/ACGS best practice guidelines for molecular analysis of Prader-Willi and Angelman syndromesJasmin Beygo, Karin Buiting, Simon C Ramsden, et al.
European Journal of Medical Genetics|September 16, 2018
Clinical and genetic heterogeneity in Melkersson-Rosenthal SyndromeYang Pei, Glenda M Beaman, David Mansfield, et al.
Journal of Medical Genetics|April 3, 2001
Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding proteinP Watson, G Black, S Ramsden, et al.
Ophthalmic Genetics|December 29, 2004
Autosomal dominant brachydactyly, coloboma and anterior segment dysgenesisS M Quinn, G C M Black, S Biswas, et al.
European Journal of Medical Genetics|October 24, 2007
Influence of the MTHFR genotype on the rate of malformations following exposure to antiepileptic drugs in uteroUsha Kini, Rebecca Lee, Alison Jones, et al.
The Knee|March 31, 2015
Reconstruction techniques and clinical results of patellar tendon ruptures: Evidence todayJack H Gilmore, Zoë J Clayton-Smith, Marc Aguilar, et al.
F1000Research|August 18, 2025
SCUBA implements a storage format-agnostic API for single-cell data access in RWilliam M Showers, Jairav Desai, Krysta L Engel, et al.
American Journal of Medical Genetics. Part A|August 5, 2010
Identification of genomic loci contributing to agenesis of the corpus callosumMary C O'Driscoll, Graeme C M Black, Jill Clayton-Smith, et al.
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