Showing results (4341-4350 of 5,829) with videos related to

Sort By:
Pageof 583
Human 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.
Human Mutation|September 13, 2026
A Novel Technique for Validating Copy Number Variants and Its Application in Familial Exudative VitreoretinopathyLi-Li Zhang, Zi-Jia Zhao, Kai-Xin Chen, et al.
Human Mutation|September 12, 2026
The Charcot-Marie-Tooth Neuropathy (CMTX3) Complex Structural Variation Causes Differential SOX3 Spatiotemporal ExpressionAlexandra Boyling, Anthony N Cutrupi, Desmond Li, et al.
Human Mutation|September 16, 2026
Conventional and Shared Genetic Association Analysis Between Diabetes Mellitus and Sensorineural Hearing LossXiaoyu Wang, Ziyan Zhang, Ke Qiu, et al.
Human Mutation|September 5, 2026
Functional Validation of a Novel Homozygous TTN Splice-Site Variant Reveals Aberrant Splicing in Hypertrophic CardiomyopathyXiaoyun Sun, Dandan Wang, Shujuan Wang, et al.
Human Mutation|September 29, 2026
Knowledge Mapping of Human Genetic Variation in Multiomics Biomarker Translation: A Bibliometric AnalysisBangshu Zhao, Wei Ran, Ning Liang
Human Mutation|September 18, 2026
Biallelic WDR19 Variants: Systematic Analysis of Genotype-Phenotype CorrelationsZoe Webster, Lisa Woods, Robert Dalziel, et al.
Human Mutation|September 19, 2026
Uncovering the Novel Genetic Determinants of Primary Congenital Glaucoma in Pakistani FamiliesHamza Khan, Sadia Bukhari, Nauman Ahmad, et al.
Human Mutation|October 6, 2026
Genotype-Phenotype Correlations and Their Implications for Personalized Genetic Counseling in 103 Patients With PRRT2 MutationsShangyu Wang, Xiaohui Min, Gege Yuan, et al.
Pageof 583