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Journal of Human Genetics|February 27, 2015
Genetic diversity of disease-associated loci in Turkish populationSefayet Karaca, Tomris Cesuroglu, Mehmet Karaca, et al.Journal of Human Genetics|February 27, 2015
Detection of APC mosaicism by next-generation sequencing in an FAP patientKiyoshi Yamaguchi, Mitsuhiro Komura, Rui Yamaguchi, et al.Journal of Human Genetics|April 17, 2015
Polymorphisms in DCDC2 and S100B associate with developmental dyslexiaHans Matsson, Mikael Huss, Helena Persson, et al.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.Pageof 353