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Journal of Human Genetics|February 24, 2019
Identification of a homozygous frameshift variant in RFLNA in a patient with a typical phenotype of spondylocarpotarsal synostosis syndromeHitomi Shimizu, Satoshi Watanabe, Akira Kinoshita, et al.Journal of Human Genetics|March 1, 2019
Identification of novel genetic variants for type 2 diabetes, childhood obesity, and their pleiotropic lociChun-Ping Zeng, Xu Lin, Cheng Peng, et al.Journal of Human Genetics|August 28, 2019
Application of ACMG criteria to classify variants in the human gene mutation databaseHui-Qi Qu, Xiang Wang, Lifeng Tian, et al.Journal of Human Genetics|September 14, 2019
SPTAN1 variants as a potential cause for autosomal recessive hereditary spastic paraplegiaEtienne Leveille, Mehrdad A Estiar, Lynne Krohn, et al.Journal of Human Genetics|August 18, 2019
A de novo variant in RAC3 causes severe global developmental delay and a middle interhemispheric variant of holoprosencephalyTakuya Hiraide, Hikari Kaba Yasui, Mitsuhiro Kato, et al.Journal of Human Genetics|September 11, 2019
Design of a multiplex ligation-dependent probe amplification assay for SLC20A2: identification of two novel deletions in primary familial brain calcificationElisa Giorgio, Emanuela Garelli, Adriana Carando, et al.Journal of Human Genetics|October 5, 2019
Portable sequencer in the fight against infectious diseaseArthur Elia Mongan, Josef Sem Berth Tuda, Lucky Ronald RuntuweneJournal of Human Genetics|October 6, 2019
Comparison of effects of UGT1A1*6 and UGT1A1*28 on irinotecan-induced adverse reactions in the Japanese population: analysis of the Biobank Japan ProjectKeiko Hikino, Takeshi Ozeki, Masaru Koido, et al.Journal of Human Genetics|January 24, 2021
Pregnant women's opinions toward prenatal pretest genetic counseling in JapanMiyuki Nishiyama, Kohei Ogawa, Fuyuki Hasegawa, et al.Journal of Human Genetics|January 31, 2021
Novel exon-skipping variant disrupting the basic domain of HCFC1 causes intellectual disability without metabolic abnormalities in both male and female patientsParith Wongkittichote, Daniel J Wegner, Marwan S ShinawiPageof 351