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Human Genetics|September 27, 2022
PMEL is mutated in oculocutaneous albinismLama AlAbdi, Muneera Alshammari, Rana Helaby, et al.Journal of Medical Genetics|April 14, 2012
Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genesHanan E Shamseldin, Muneera Alshammari, Tarfa Al-Sheddi, et al.Human Genetics|November 24, 2016
Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataractNisha Patel, Deepti Anand, Dorota Monies, et al.Human Genetics|March 30, 2016
Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissueAnas M Alazami, Sarah M Al-Qattan, Eissa Faqeih, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 4, 2015
Accelerating matchmaking of novel dysmorphology syndromes through clinical and genomic characterization of a large cohortRanad Shaheen, Nisha Patel, Hanan Shamseldin, et al.Genome Medicine|September 30, 2025
Adult genomic medicine: lessons from a multisite study of 2700 patientsKhadijah Bakur, Halima Hamid, Bader Alhaddad, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 6, 2018
Expanding the phenome and variome of skeletal dysplasiaSateesh Maddirevula, Saud Alsahli, Lamees Alhabeeb, et al.Cell Reports|January 6, 2015
Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous familiesAnas M Alazami, Nisha Patel, Hanan E Shamseldin, et al.Pageof 1