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Journal of Human Genetics|March 20, 2015
A novel mutation in EED associated with overgrowthAna S A Cohen, Beyhan Tuysuz, Yaoqing Shen, et al.Journal of Human Genetics|March 20, 2015
Short-term efficacy of N-carbamylglutamate in a patient with N-acetylglutamate synthase deficiencyJa Hye Kim, Yoo-Mi Kim, Beom Hee Lee, et al.Journal of Human Genetics|March 27, 2015
A novel mutation of EYA4 in a large Chinese family with autosomal dominant middle-frequency sensorineural hearing loss by targeted exome sequencingYi Sun, Zhao Zhang, Jing Cheng, et al.Journal of Human Genetics|April 23, 2023
Clinical risk management of breast, ovarian, pancreatic, and prostatic cancers for BRCA1/2 variant carriers in JapanArisa Ueki, Reiko Yoshida, Takeo Kosaka, et al.Journal of Human Genetics|November 16, 2012
Analysis of ZNF350/ZBRK1 promoter variants and breast cancer susceptibility in non-BRCA1/2 French Canadian breast cancer familiesKarine V Plourde, Yvan Labrie, Sylvie Desjardins, et al.Journal of Human Genetics|January 24, 2014
A stepwise likelihood ratio test procedure for rare variant selection in case-control studiesAnthony Y C Kuk, David J Nott, Yaning YangJournal of Human Genetics|January 24, 2014
Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analysesHiroyuki Ishiura, Yuji Takahashi, Toshihiro Hayashi, et al.Journal of Human Genetics|July 13, 2020
Paleolithic genetic link between Southern China and Mainland Southeast Asia revealed by ancient mitochondrial genomesFan Bai, Xinglong Zhang, Xueping Ji, et al.Journal of Human Genetics|July 15, 2020
Attitudes toward and current status of disclosure of secondary findings from next-generation sequencing: a nation-wide survey of clinical genetics professionals in JapanMio Tsuchiya, Takahiro Yamada, Rina Akaishi, et al.Journal of Human Genetics|August 9, 2020
METAP1 mutation is a novel candidate for autosomal recessive intellectual disabilityAhmet Okay Caglayan, Fesih Aktar, Kaya Bilguvar, et al.Pageof 351