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Journal of Human Genetics|February 2, 2021
Characterization of LILRB3 and LILRA6 allelic variants in the Japanese populationKouyuki Hirayasu, Jinwen Sun, Gen Hasegawa, et al.Journal of Human Genetics|February 2, 2021
Postzygotic inactivating mutation of KIF13A located at chromosome 6p22.3 in a patient with a novel mosaic neuroectodermal syndromeChing-Wan Lam, Candace Yim Chan, Ka-Chung Wong, et al.Journal of Human Genetics|January 15, 2021
Independent and cumulative coeliac disease-susceptibility loci are associated with distinct disease phenotypesJuliana X M Cerqueira, Päivi Saavalainen, Kalle Kurppa, et al.Journal of Human Genetics|September 12, 2019
Functional analysis of the third identified SLC25A19 mutation causative for the thiamine metabolism dysfunction syndrome 4Roberta Bottega, Maria D Perrone, Katy Vecchiato, et al.Journal of Human Genetics|January 23, 2021
An integrated clinical and molecular study of a cohort of Turkish patients with Marfan syndrome harboring known and novel FBN1 variantsAlper Gezdirici, Kerem Teralı, Elif Yılmaz Gülec, et al.Journal of Human Genetics|February 21, 2021
Identification of OPN3 as associated with non-syndromic oligodontia in a Japanese populationYumi Inagaki, Takuya Ogawa, Makoto J Tabata, et al.Journal of Human Genetics|December 9, 2016
Novel KCNB1 mutation associated with non-syndromic intellectual disabilityXénia Latypova, Naomichi Matsumoto, Cécile Vinceslas-Muller, et al.Journal of Human Genetics|December 9, 2016
Role of miRNAs in the pathogenesis and susceptibility of diabetes mellitusNaoko Hashimoto, Tomoaki TanakaJournal of Human Genetics|December 23, 2016
HMSN Lom in 12 Czech patients, with one unusual case due to uniparental isodisomy of chromosome 8Dana Šafka Brožková, Jaroslava Paulasová Schwabová, Jana Neupauerová, et al.Journal of Human Genetics|November 18, 2016
Genetic trail for the early migrations of Aisin Gioro, the imperial house of the Qing dynastyLan-Hai Wei, Shi Yan, Ge Yu, et al.Pageof 351