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Journal of Human Genetics|February 22, 2023
Facial clues to the photosensitive trichothiodystrophy phenotype in childhoodGiulia Pascolini, Federica Gaudioso, Marina Baldi, et al.
Journal of Human Genetics|March 2, 2023
Association of rs9939609 in FTO with BMI among Polynesian peoples living in Aotearoa New Zealand and other Pacific nationsMohanraj Krishnan, Amanda Phipps-Green, Emily M Russell, et al.
Journal of Human Genetics|July 3, 2015
Genetic mutations in human rectal cancers detected by targeted sequencingJun Bai, Jinglong Gao, Zhijun Mao, et al.
Journal of Human Genetics|July 3, 2015
Molecular genetics of coronary artery diseaseKouichi Ozaki, Toshihiro Tanaka
Journal of Human Genetics|August 5, 2016
Whole-gene CFTR sequencing combined with digital RT-PCR improves genetic diagnosis of cystic fibrosisLetizia Straniero, Giulia Soldà, Lucy Costantino, et al.
Journal of Human Genetics|August 18, 2022
Molecular diagnose of a large hearing loss population from China by targeted genome sequencingJie Wu, Zongfu Cao, Yu Su, et al.
Journal of Human Genetics|August 9, 2022
Utility of tissue-specific gene expression scores for gene prioritization in Mendelian diseasesDaiki Kato, Satomi Mitsuhashi, Fuyuki Miya, et al.
Journal of Human Genetics|May 27, 2020
The first Japanese case of primary familial brain calcification caused by an MYORG variantKodai Kume, Tadayuki Takata, Hiroyuki Morino, et al.
Journal of Human Genetics|May 7, 2021
The association between RAPSN methylation in peripheral blood and breast cancer in the Chinese populationShuifang Lei, Lixi Li, Xiaoqin Yang, et al.
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