Showing results (4331-4340 of 5,826) with videos related to
Sort By:
Pageof 583
Human Mutation|August 4, 2026
Complex Genomic Rearrangement Involving the TBX4 Promoter Manifesting With Variable Expressivity in a Five-Generation FamilyShruti A Pande, Hiuling Chan Joiner, Przemyslaw Szafranski, et al.Human Mutation|August 11, 2026
Molecular Characterization of TSC1 and TSC2 Variants in a Greek Cohort of Tuberous Sclerosis Complex PatientsSocratis N Avgeris, Florentia Fostira, Paraskevi Apostolou, et al.Human Mutation|August 14, 2026
Splice effect of a synonymous variant in AP4B1: multiomics approach establishes the diagnosis in two sisters with spastic paraplegiaSusann Badmann, Alice Saparov, Philip Harrer, et al.Human Mutation|August 18, 2026
Clinical, Histological, and Genetic Characterization of a Large Cohort of 49 Patients With Nebulin-Related Congenital MyopathyYvan de Feraudy, Anthony Maino, Morgane Boedec, et al.Human Mutation|August 18, 2026
Two Unrelated Families With Noncoding Duplications Upstream of MSX2 Refine the Critical Regulatory Region Likely Involved in Cranial Bone Development and a Cleidocranial Dysplasia-Like PhenotypeMamiko Yamada, Mark Cleghorn, Prabhakara Krishnamurthy, et al.Human Mutation|August 20, 2026
Identification of Novel Pathogenic Variants in Familial Adenomatous Polyposis Through Whole Genome SequencingSung-Ryung Choi, Min Jung Kim, Ja-Lok Ku, et al.Human Mutation|August 23, 2026
A Study on the Clinical Phenotypes and Genetic Analysis of ENG Variants in Four Hereditary Hemorrhagic Telangiectasia Type 1 FamiliesYujing Gong, Tingmin Zhou, Xinru Fu, et al.Human Mutation|August 27, 2026
Computational Characterization of Pathogenic LMNA Missense Variants: Structural Instability, Altered Binding, and Conformational DynamicsEmre Aktaş, Ceren Nizamoğlu, Salvador VenturaHuman Mutation|September 10, 2026
First Cornelia de Lange Syndrome Type 4 Caused by the Gonadal Mosaicism of RAD21 DeletionYanchuan Xie, Dongyan Li, Wensheng Li, et al.Human Mutation|September 13, 2026
Clinical and Genetic Spectrum of Large AIP DeletionsTea Shehu Kolnikaj, Maren Ruka, Artur Xhumari, et al.Pageof 583