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Journal of Human Genetics|October 3, 2022
Challenges of secondary finding disclosure in genomic medicine in rare diseases: A nation-wide survey of Japanese facilities outsourcing comprehensive genetic testingKana Hiromoto, Takahiro Yamada, Mio Tsuchiya, et al.Journal of Human Genetics|September 27, 2022
Identification of unique DNA methylation sites in Kabuki syndrome using whole genome bisulfite sequencing and targeted hybridization capture followed by enzymatic methylation sequencingYo Hamaguchi, Hiroyuki Mishima, Tomoko Kawai, et al.Journal of Human Genetics|September 28, 2022
Comprehensive targeted next-generation sequencing in patients with slow-flow vascular malformationsAkifumi Nozawa, Akihiro Fujino, Shunsuke Yuzuriha, et al.Journal of Human Genetics|January 12, 2022
Admixture mapping of anthropometric traits in the Black Women's Health Study: evidence of a shared African ancestry component with birth weight and type 2 diabetesYue Wu, Julie R Palmer, Lynn Rosenberg, et al.Journal of Human Genetics|March 12, 2024
Expanding the genetic and phenotypic spectrum of TRAPPC9 and MID2-related neurodevelopmental disabilities: report of two novel mutations, 3D-modelling, and molecular docking studiesMarwa Kharrat, Chahnez Triki, Abir Ben Isaa, et al.Journal of Human Genetics|February 29, 2024
Advances in AI and machine learning for predictive medicineAlok Sharma, Artem Lysenko, Shangru Jia, et al.Journal of Human Genetics|March 1, 2024
Potential drug targets for gastroesophageal reflux disease and Barrett's esophagus identified through Mendelian randomization analysisYun-Lu Lin, Tao Yao, Ying-Wei Wang, et al.Journal of Human Genetics|November 10, 2023
Nanopore long-read sequencing analysis reveals ZIC1 dysregulation caused by a de novo 3q inversion with a breakpoint located 7 kb downstream of ZIC1Hiroaki Murakami, Yumi Enomoto, Tatsuro Kumaki, et al.Journal of Human Genetics|July 19, 2024
INTS11-related neurodevelopmental disorder: a case report and literature reviewLihua Jiang, Yilong Wang, Weiqin Zhang, et al.Journal of Human Genetics|July 17, 2024
Association study of GBA1 variants with MSA based on comprehensive sequence analysis -Pitfalls in short-read sequence analysis depending on the human reference genomeKenta Orimo, Jun Mitsui, Takashi Matsukawa, et al.Pageof 351