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Human Mutation|May 13, 2008
Genome-wide copy number analysis using copy number inferring tool (CNIT) and DNA poolingChien-hsing Lin, Mei-chu Huang, Ling-hui Li, et al.Human Mutation|May 13, 2008
SALL1 truncated protein expression in Townes-Brocks syndrome leads to ectopic expression of downstream genesSusan M Kiefer, Lynn Robbins, Andrew Barina, et al.Human Mutation|May 13, 2008
Dynamic nature of the proximal AZFc region of the human Y chromosome: multiple independent deletion and duplication events revealed by microsatellite analysisPatricia Balaresque, Georgina R Bowden, Emma J Parkin, et al.Human Mutation|April 14, 2025
Constitutional BRCA1 Epimutations: A Key for Understanding Basal-Like Breast and High-Grade Serous Ovarian CancerPer E Lønning, Oleksii Nikolaienko, Stian KnappskogHuman Mutation|April 14, 2025
BTKbase, Bruton Tyrosine Kinase Variant Database in X-Linked Agammaglobulinemia: Looking Back and AheadGerard C P Schaafsma, Jouni Väliaho, Qing Wang, et al.Human Mutation|April 14, 2025
A Comprehensive LOVD Database for Fatty Acid Oxidation Disorders in Chinese PopulationsTing Zhang, Zinan Yu, Lingwei Hu, et al.Human Mutation|April 14, 2025
Biallelic Recessive Mutations in TLE6 and NLRP5 Cause Female Infertility Characterized by Human Early Embryonic ArrestRuiqi Li, Mei Mei, Ling Zhou, et al.Human Mutation|April 14, 2025
Clinical, Pathologic, and Genetic Spectrum of Collagen VI-Related Disorder in China-A Retrospective Observational Multicenter StudyChaoping Hu, Yiyun Shi, Lei Zhao, et al.Human Mutation|April 14, 2025
CAVaLRi: An Algorithm for Rapid Identification of Diagnostic Germline VariationRobert J Schuetz, Austin A Antoniou, Grant E Lammi, et al.Human Mutation|April 14, 2025
Intron Variant Cause DICER1 Syndrome With Pleuropulmonary BlastomaRujin Tian, Yixiao Li, Lin Zhong, et al.Pageof 583