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Journal of Human Genetics|July 5, 2019
Hemorrhagic stroke and renovascular hypertension with Grange syndrome arising from a novel pathogenic variant in YY1AP1Ken Saida, Chong Ae Kim, José Ricardo Magliocco Ceroni, et al.Journal of Human Genetics|April 26, 2019
Effect of enzyme replacement therapy on the growth of patients with Morquio ACaitlin Doherty, Molly Stapleton, Matthew Piechnik, et al.Journal of Human Genetics|May 13, 1999
Association of radial bone mineral density with CA repeat polymorphism at the interleukin 6 locus in postmenopausal Japanese womenK Tsukamoto, H Yoshida, S Watanabe, et al.Journal of Human Genetics|May 13, 1999
Isolation and characterization of a human cDNA homologous to the Xenopus laevis XCAP-C gene belonging to the structural maintenance of chromosomes (SMC) familyT Nishiwaki, Y Daigo, T Kawasoe, et al.Journal of Human Genetics|March 18, 2000
Mitochondrial DNA mutations in Leigh syndrome and their phylogenetic implicationsM Makino, S Horai, Y Goto, et al.Journal of Human Genetics|March 18, 2000
Y chromosomal DNA variation in east Asian populations and its potential for inferring the peopling of KoreaW Kim, D J Shin, S Harihara, et al.Journal of Human Genetics|December 16, 2022
Genome sequencing identifies a large non-coding region deletion of SNX10 causing autosomal recessive osteopetrosisPrajna Udupa, Debasish Kumar Ghosh, Neethukrishna Kausthubham, et al.Journal of Human Genetics|December 19, 2022
De novo CLCN3 variants affecting Gly327 cause severe neurodevelopmental syndrome with brain structural abnormalitiesMitsuko Nakashima, Emanuela Argilli, Sayaka Nakano, et al.Journal of Human Genetics|January 4, 2023
PSMC6 induces immune cell infiltration and inflammatory response to aggravate primary Sjögren's syndromeYongzhu Piao, Yutong Qi, Hao Zhang, et al.Journal of Human Genetics|January 4, 2023
Genetic factors associated with serum amylase in a Japanese population: combined analysis of copy-number and single-nucleotide variantsZannatun Nayema, Takehiro Sato, Takayuki Kannon, et al.Pageof 351