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Journal of Human Genetics|July 2, 2024
Investigating druggable kinases for targeted therapy in retinoblastomaKumar Jeyaprakash, Manojkumar Kumaran, Usha Kim, et al.Journal of Human Genetics|July 1, 2024
Association of Crohn's disease and ulcerative colitis with the risk of neurological diseases: a large-scale Mendelian randomization studyYinan Wang, Yiming Jia, Qingyun Xu, et al.Journal of Human Genetics|June 4, 2024
Genetic association mapping leveraging Gaussian processesNatsuhiko KumasakaJournal of Human Genetics|July 10, 2024
Characterization of a missense variant in COG5 in a Tunisian patient with COG5-CDG syndrome and insights into the effect of non-synonymous variants on COG5 proteinBoudour Khabou, Umar Bin Mohamad Sahari, Abir Ben Issa, et al.Journal of Human Genetics|June 16, 2024
Genotypic and phenotypic characteristics of sodium channel-associated epilepsy in Chinese populationRui Dong, Ruifeng Jin, Hongwei Zhang, et al.Journal of Human Genetics|August 17, 2023
Complete SAMD12 repeat expansion sequencing in a four-generation BAFME1 family with anticipationTakeshi Mizuguchi, Tomoko Toyota, Eriko Koshimizu, et al.Journal of Human Genetics|August 17, 2023
Application of the PGT-M strategy using single sperm and/or affected embryos as probands for linkage analysis in males with hereditary tumor syndromes without family historyXi Chen, Yuqian Wang, Shuo Guan, et al.Journal of Human Genetics|October 11, 2023
Analysis of complex chromosomal rearrangement involving chromosome 6 via the integration of optical genomic mapping and molecular cytogenetic methodologiesNa Hao, Haijuan Lou, Mengmeng Li, et al.Journal of Human Genetics|September 26, 2023
Novel CWF19L1 mutations in patients with spinocerebellar ataxia, autosomal recessive 17Prashant Phulpagar, Vikram V Holla, Deepti Tomar, et al.Journal of Human Genetics|July 21, 2023
Novel compound heterozygous mutation and phenotype in the tetratricopeptide repeat-like domain of the GEMIN5 gene in two Chinese familiesXin Zhang, Yanzhao Guo, Lu Xu, et al.Pageof 351