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HGG Advances|September 13, 2021
A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disordersJignesh R Parikh, Casie A Genetti, Asli Aykanat, et al.Journal of Clinical Immunology|July 28, 2023
Atypical Localization of Eczema Discriminates DOCK8 or STAT3 Deficiencies from Atopic DermatitisNurhan Kasap, Altan Kara, Velat Celik, et al.Neurology|April 3, 2015
Loss of PCLO function underlies pontocerebellar hypoplasia type IIIMustafa Y Ahmed, Barry A Chioza, Anna Rajab, et al.European Journal of Human Genetics : EJHG|May 15, 2025
Recessive variants in WSB2 encoding a substrate receptor of E3 ubiquitin ligase underlie a neurodevelopmental syndromeShiyu Luo, Valérie Gailus-Durner, Bobbi McGivern, et al.Immunity|October 3, 2025
Notch3 destabilizes regulatory T cells to drive autoimmune neuroinflammation in multiple sclerosisMehdi Benamar, Paola Contini, Klaus Schmitz-Abe, et al.Plos Genetics|July 7, 2021
A homozygous stop-gain variant in ARHGAP42 is associated with childhood interstitial lung disease, systemic hypertension, and immunological findingsQifei Li, Michal Dibus, Alicia Casey, et al.American Journal of Human Genetics|April 14, 2015
Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and HypomyelinationTojo Nakayama, Almundher Al-Maawali, Malak El-Quessny, et al.American Journal of Hematology|October 30, 2013
X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutationsDean R Campagna, Charlotte I de Bie, Klaus Schmitz-Abe, et al.Nature|January 22, 2025
RELMβ sets the threshold for microbiome-dependent oral toleranceEmmanuel Stephen-Victor, Gavin A Kuziel, Monica Martinez-Blanco, et al.The Journal of Clinical Investigation|November 2, 2016
Deficiency of base excision repair enzyme NEIL3 drives increased predisposition to autoimmunityMichel J Massaad, Jia Zhou, Daisuke Tsuchimoto, et al.Pageof 7