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Journal of Human Genetics|June 17, 2018
A novel homozygous missense mutation in the SH3-binding motif of STAMBP causing microcephaly-capillary malformation syndromeIkumi Hori, Fuyuki Miya, Yutaka Negishi, et al.Journal of Human Genetics|June 15, 2018
A KAT6A variant in a family with autosomal dominantly inherited microcephaly and developmental delayJoanne Trinh, Irina Hüning, Zafer Yüksel, et al.Journal of Human Genetics|June 10, 2018
Further expansion of the mutational spectrum of spondylo-meta-epiphyseal dysplasia with abnormal calcificationGizem Ürel-Demir, Pelin Ozlem Simsek-Kiper, Özlem Akgün-Doğan, et al.Journal of Human Genetics|June 10, 2018
A novel frameshift deletion in PLS3 causing severe primary osteoporosisAlice Costantini, Panagiotis Ν Krallis, Anders Kämpe, et al.Journal of Human Genetics|February 6, 2015
Prenatal and postnatal findings in a 10.6 Mb interstitial deletion at 10p11.22-p12.31Simona Sosoi, Ioana Streata, Stefania Tudorache, et al.Journal of Human Genetics|June 13, 2014
MTHFR gene polymorphism in acute lymphoblastic leukemia among North Indian children: a case-control study and meta-analysis updated from 2011Nirmalya Roy Moulik, Farah Parveen, Archana Kumar, et al.Journal of Human Genetics|January 30, 2015
NF1 single and multi-exons copy number variations in neurofibromatosis type 1Apolline Imbard, Eric Pasmant, Audrey Sabbagh, et al.Journal of Human Genetics|January 23, 2015
A nonsynonymous SNP in BANK1 is associated with serum LDL cholesterol levels in three Korean populationsKyung-Won Hong, Jieun Lyu, So Hyun Lee, et al.Journal of Human Genetics|January 23, 2015
Identical deletion at 14q13.3 including PAX9 and NKX2-1 in siblings from mosaicism of unaffected parentShin Hayashi, Mariko Yagi, Ichijiro Morisaki, et al.Journal of Human Genetics|April 10, 2015
Japan PGx Data Science Consortium Database: SNPs and HLA genotype data from 2994 Japanese healthy individuals for pharmacogenomics studiesShigeo Kamitsuji, Takashi Matsuda, Koichi Nishimura, et al.Pageof 351