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Journal of Human Genetics|January 17, 2025
Returning genetic risk information for hereditary cancers to participants in a population-based cohort study in JapanKinuko Ohneda, Yoichi Suzuki, Yohei Hamanaka, et al.Journal of Human Genetics|January 14, 2025
Triple mosaic variants of PURA in a patient with multiple congenital anomaliesAtsushi Fujita, Yuta Suenaga, Eri Takeshita, et al.Journal of Human Genetics|April 8, 2025
Mosaic deletions detected by genome sequencing in two familiesNaomi Tsuchida, Yuri Uchiyama, Kohei Hamanaka, et al.Journal of Human Genetics|December 18, 2024
Genetic inhibition of nicotinamide N-methyltransferase and prevention of alcohol-associated fatty liver in humansBenrui Wu, Xiong Weng, Ying Pan, et al.Journal of Human Genetics|December 5, 2024
From benign to pathogenic variants and vice versa: pyrimidine transitions at position -3 of TAG and CAG 3' splice sitesIgor VořechovskýJournal of Human Genetics|December 11, 2024
Cancer and disease profiles for PTEN pathogenic variants in Japanese populationYuki Kanazashi, Yoshiaki Usui, Yusuke Iwasaki, et al.Journal of Human Genetics|November 10, 2024
Novel variants in DNAH9 are present in two infertile patients with severe asthenospermiaFei Yan, Weiwei Zhi, Yazhen Wei, et al.Journal of Human Genetics|October 16, 2024
Novel homozygous ESAM variants in two families with perinatal strokes showing variable neuroradiologic and clinical findingsGhada M H Abdel-Salam, Asmaa Esmail, Dina Nagy, et al.Journal of Human Genetics|September 25, 2024
Development of a method for the imputation of the multi-allelic serotonin-transporter-linked polymorphic region (5-HTTLPR) in the Japanese populationYutaro Yanagida, Izumi Naka, Yutaka Nakachi, et al.Journal of Human Genetics|February 26, 2025
Germline mosaicism in TCF20-associated neurodevelopmental disorders: a case study and literature reviewJessie Poquérusse, Whitney Whitford, Juliet Taylor, et al.Pageof 351