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Journal of Human Genetics|April 4, 2009
Structural modeling of mutant alpha-glucosidases resulting in a processing/transport defect in Pompe diseaseKanako Sugawara, Seiji Saito, Masakazu Sekijima, et al.Journal of Human Genetics|April 4, 2009
Novel KCNA5 loss-of-function mutations responsible for atrial fibrillationYiqing Yang, Jun Li, Xiaoping Lin, et al.Journal of Human Genetics|March 27, 2009
Median network analysis of defectively sequenced entire mitochondrial genomes from early and contemporary disease studiesHans-Jürgen Bandelt, Yong-Gang Yao, Claudio M Bravi, et al.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.Pageof 353