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Brain : a Journal of Neurology|June 22, 2017
MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disabilityEmil Ylikallio, Rosa Woldegebriel, Manuela Tumiati, et al.American Journal of Human Genetics|February 29, 2020
De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental DisordersMaria J Nabais Sá, Geniver El Tekle, Arjan P M de Brouwer, et al.Translational Oncology|June 22, 2026
Perioperative ctDNA as a prognostic biomarker in endometrial cancer - the CODEC studyRachel L Delahunty, Madawa Jayawardana, Rainier Arnolda, et al.Science (New York, N.Y.)|May 14, 2016
Histone H3K36 mutations promote sarcomagenesis through altered histone methylation landscapeChao Lu, Siddhant U Jain, Dominik Hoelper, et al.American Journal of Human Genetics|August 1, 2024
Identification of a DNA methylation episignature for recurrent constellations of embryonic malformationsSadegheh Haghshenas, Karim Karimi, Roger E Stevenson, et al.Cell|March 1, 2024
Structurally divergent and recurrently mutated regions of primate genomesYafei Mao, William T Harvey, David Porubsky, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 26, 2025
Mainstreaming of clinical genetic testing: A conceptual frameworkMichael P Mackley, Julie Richer, Andrea Guerin, et al.Nature Communications|March 10, 2026
CXCR4-tropic HIV-1 infection in an immunocompetent monkey modelNicholas R Meyerson, Vanessa L Bauer, Will T Fattor, et al.American Journal of Human Genetics|March 26, 2024
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic featuresSureni V Mullegama, Kaitlyn A Kiernan, Erin Torti, et al.Clinical Genetics|October 27, 2015
Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and managementM Avila, D A Dyment, J V Sagen, et al.Pageof 71