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Journal of Human Genetics|July 25, 2008
New correction algorithms for multiple comparisons in case-control multilocus association studies based on haplotypes and diplotype configurationsKazuharu Misawa, Shoogo Fujii, Toshimasa Yamazaki, et al.Journal of Human Genetics|July 18, 2008
Structural characterization of mutant alpha-galactosidases causing Fabry diseaseKanako Sugawara, Kazuki Ohno, Seiji Saito, et al.Journal of Human Genetics|February 10, 2022
Comprehensive genetic analysis using next-generation sequencing for the diagnosis of nephronophthisis-related ciliopathies in the Japanese populationNana Sakakibara, Kandai Nozu, Tomohiko Yamamura, et al.Journal of Human Genetics|May 30, 2019
The utility of post-test newborn blood spot screening cards for epigenetic association analyses: association between HIF3A methylation and birth weight-for-gestational ageTay Zar Kyaw, Seiji Yamaguchi, Chihiro Imai, et al.Journal of Human Genetics|June 1, 2019
Relating Clans Ao and Aisin Gioro from northeast China by whole Y-chromosome sequencingChi-Zao Wang, Lan-Hai Wei, Ling-Xiang Wang, et al.Journal of Human Genetics|June 6, 2019
Novel mutations in KMT2B offer pathophysiological insights into childhood-onset progressive dystoniaHormos Salimi Dafsari, Rosanne Sprute, Gilbert Wunderlich, et al.Journal of Human Genetics|June 11, 2019
Correction: Whole-exome sequencing identifies a novel CCDC151 mutation, c.325GT (p.E109X), in a patient with primary ciliary dyskinesia and situs inversusWeizhi Zhang, Dongping Li, Shijie Wei, et al.Journal of Human Genetics|October 12, 2019
Recent advances in the detection of base modifications using the Nanopore sequencerLiu Xu, Masahide SekiJournal of Human Genetics|October 18, 2019
A systematic review of predicted pathogenic PALB2 variants: an analysis of mutational overlap between epithelial cancersBoris Janssen, Sarah Bellis, Thomas Koller, et al.Journal of Human Genetics|May 16, 2019
Development of an MSI-positive colon tumor with aberrant DNA methylation in a PPAP patientKiyoshi Yamaguchi, Eigo Shimizu, Rui Yamaguchi, et al.Pageof 353