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Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 20, 2021
Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disordersAida M Bertoli-Avella, Krishna K Kandaswamy, Suliman Khan, et al.
Clinical Genetics|December 19, 2018
The many faces of peroxisomal disorders: Lessons from a large Arab cohortJumanah Alshenaifi, Nour Ewida, Shams Anazi, 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.
American Journal of Human Genetics|May 26, 2021
Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathyHui Hui Wong, Sze Hwee Seet, Michael Maier, et al.
Brain : a Journal of Neurology|November 11, 2023
Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disordersRauan Kaiyrzhanov, Aboulfazl Rad, Sheng-Jia Lin, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 11, 2026
High Throughput Evidence Generation to Support Tentative Gene Disease Relationship from A Cohort Enriched for Autozygosity and Founder EffectKhadijah Bakur, Bader Alhaddad, Ali Balubaid, et al.
Annals of Neurology|October 7, 2025
Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset ParkinsonismHormos Salimi Dafsari, Celine Deneubourg, Kritarth Singh, et al.
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