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Journal of Human Genetics|July 31, 2015
Genetics of congenital heart disease: the contribution of the noncoding regulatory genomeAlex V Postma, Connie R Bezzina, Vincent M ChristoffelsJournal of Human Genetics|December 25, 2014
Early-progressive dilated cardiomyopathy in a family with Becker muscular dystrophy related to a novel frameshift mutation in the dystrophin gene exon 27Takeshi Tsuda, Kristi Fitzgerald, Mena Scavena, et al.Journal of Human Genetics|October 31, 2014
Genetic variant in NDUFS1 gene is associated with schizophrenia and negative symptoms in Han ChineseYunlong Zhu, Zhongliang Wang, Jianliang Ni, et al.Journal of Human Genetics|October 10, 2014
Novel locus for fibrinogen in 3' region of LEPR gene in island population of Vis (Croatia)Željka Tomas, Matea Zajc Petranović, Tatjana Škarić-Jurić, et al.Journal of Human Genetics|October 10, 2014
Identification of the rare compound heterozygous variants in the NEB gene in a Korean family with intellectual disability, epilepsy and early-childhood-onset generalized muscle weaknessHyun-Seok Jin, Jong-Bin Lee, Kyung Kim, et al.Journal of Human Genetics|September 10, 2020
Novel missense variants in PCK1 gene cause cytosolic PEPCK deficiency with growth failure from inadequate caloric intakeKimihiko Oishi, Casey Siegel, Emalyn E Cork, et al.Journal of Human Genetics|September 4, 2020
Aberrant expression of a novel circular RNA in pancreatic cancerTakahiro Seimiya, Motoyuki Otsuka, Takuma Iwata, et al.Journal of Human Genetics|February 19, 2020
Long-read sequencing identifies the pathogenic nucleotide repeat expansion in RFC1 in a Japanese case of CANVASHaruko Nakamura, Hiroshi Doi, Satomi Mitsuhashi, et al.Journal of Human Genetics|February 12, 2020
Erratum to: Mutational analysis of 65 Wilson disease patients in Hong Kong Chinese: Identification of 17 novel mutations and its genetic heterogeneityChloe Miu Mak, Ching-Wan Lam, Sidney Tam, et al.Journal of Human Genetics|December 10, 2019
New evidence for associations between vitamin D receptor polymorphism and obesity: case-control and family-based studiesSongcheng Yu, Xing Li, Fei Yu, et al.Pageof 352