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Human Mutation|February 10, 2021
Cancer SIGVAR: A semiautomated interpretation tool for germline variants of hereditary cancer-related genesHong Li, Shuixia Liu, Shuangying Wang, et al.Human Mutation|February 10, 2021
Novel variants in critical domains of ATP8A2 and expansion of clinical spectrumErfan Heidari, Alexander N Harrison, Ehsan Jafarinia, et al.Human Mutation|February 18, 2021
Genomic variants causing mitochondrial dysfunction are common in hereditary lower motor neuron diseaseNatalie Keller, Cem Paketci, Janine Altmueller, et al.Human Mutation|February 9, 2021
Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease-associated variants, common sequence variants, and results from newborn screeningDouglas O S de Faria, Stijn L M In 't Groen, Marianne Hoogeveen-Westerveld, et al.Human Mutation|January 13, 2021
The genomic landscape of pediatric rheumatology disorders in the Middle EastBasil M Fathalla, Ali Alsarhan, Samina Afzal, et al.Human Mutation|December 24, 2016
TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral SclerosisJulie van der Zee, Ilse Gijselinck, Sara Van Mossevelde, et al.Human Mutation|December 14, 2016
Landscape of Pleiotropic Proteins Causing Human Disease: Structural and System Biology InsightsSirawit Ittisoponpisan, Eman Alhuzimi, Michael J E Sternberg, et al.Human Mutation|December 14, 2016
Assessment of TP53 Polymorphisms and MDM2 SNP309 in Premenopausal Breast Cancer RiskNardin Samuel, Badr Id Said, Tanya Guha, et al.Human Mutation|October 22, 2016
Novel BRCA1 and BRCA2 Tumor Test as Basis for Treatment Decisions and Referral for Genetic Counselling of Patients with Ovarian CarcinomasRobbert D A Weren, Arjen R Mensenkamp, Michiel Simons, et al.Human Mutation|October 25, 2016
Pharmacological Chaperoning: A Potential Treatment for PMM2-CDGPatricia Yuste-Checa, Sandra Brasil, Alejandra Gámez, et al.Pageof 575