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Human Mutation|April 14, 2025
The Broad Spectrum of TP53 Mutations in CLL: Evidence of Multiclonality and Novel Mutation HotspotsGrégory Lazarian, Bernard Leroy, Floriane Theves, et al.Human Mutation|April 14, 2025
A Palindrome-Like Structure on 16p13.3 Is Associated with the Formation of Complex Structural Variations and SRRM2 HaploinsufficiencyAlistair T Pagnamenta, Jing Yu, Tracey A Willis, et al.Human Mutation|April 14, 2025
COG6-CDG: Two Novel Variants and Milder Phenotype in a Chinese PatientXue-Yuan Zhang, Jing Zhang, Yi LuHuman Mutation|April 14, 2025
Balanced Translocation Disrupting JAG1 Identified by Optical Genomic Mapping in Suspected Alagille SyndromeYi-Qiong Zhang, Peng-Fei Gao, Jing-Min Yang, et al.Human Mutation|April 14, 2025
Genotype and Phenotype Characteristics of Chinese Pediatric Patients with Primary HyperoxaluriaYucheng Ge, Yukun Liu, Ruichao Zhan, et al.Human Mutation|April 14, 2025
A Novel Constitutively Active c.98G > C, p.(R33P) Variant in RAB11A Associated with Intellectual Disability Promotes Neuritogenesis and Affects Oligodendroglial ArborizationYumi Tsuneura, Taeko Kawai, Keitaro Yamada, et al.Human Mutation|April 14, 2025
A Novel Alu Element Insertion in ATM Induces Exon Skipping in Suspected HBOC PatientsJanin Klein, Aldrige B Allister, Gunnar Schmidt, et al.Human Mutation|April 14, 2025
Targeted Genomic Sequencing of TSC1 and TSC2 Reveals Causal Variants in Individuals for Whom Previous Genetic Testing for Tuberous Sclerosis Complex Was NormalHannah D West, Mark Nellist, Rutger W W Brouwer, et al.Human Mutation|April 14, 2025
Impact of Gene Modifiers on Cystic Fibrosis Phenotypic Profiles: A Systematic ReviewAnastasia Ward, Ramil Mauleon, Chee Y Ooi, et al.Human Mutation|April 14, 2025
Characterization and Engineered U1 snRNA Rescue of Splicing Variants in a Turkish Neurodevelopmental Disease CohortEce Sönmezler, Cristiana Stuani, Semra Hız Kurul, et al.Pageof 575