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Journal of Human Genetics|April 2, 2008
Gap junction beta 1 (GJB1) gene mutations in Italian patients with X-linked Charcot-Marie-Tooth diseasePaola Mandich, Marina Grandis, Alessandro Geroldi, et al.Journal of Human Genetics|April 17, 2008
Genome-wide linkage analysis for circulating levels of adipokines and C-reactive protein in the Quebec family study (QFS)Stephanie-May Ruchat, Jean-Pierre Després, S John Weisnagel, et al.Journal of Human Genetics|April 17, 2008
Subsequent pregnancy outcomes in recurrent miscarriage patients with a paternal or maternal carrier of a structural chromosome rearrangementMayumi Sugiura-Ogasawara, Koji Aoki, Tomoyuki Fujii, et al.Journal of Human Genetics|April 17, 2008
Analysis of regulatory polymorphisms in organic ion transporter genes (SLC22A) in the kidneyKen Ogasawara, Tomohiro Terada, Hideyuki Motohashi, et al.Journal of Human Genetics|March 20, 2008
The role of MTHFR gene in multiple myelomaElias Zintzaras, Stavroula Giannouli, Paraskevi Rodopoulou, et al.Journal of Human Genetics|March 20, 2008
Analysis of GADD45A sequence variations in French Canadian families with high risk of breast cancerSylvie Desjardins, Geneviève Ouellette, Yvan Labrie, et al.Journal of Human Genetics|April 2, 2025
Profiling of runs of homozygosity from whole-genome sequence data in Japanese biobankAye Ko Ko Minn, Motomichi Matsuzaki, Akira Narita, et al.Journal of Human Genetics|March 31, 2025
A novel case of autosomal-dominant cutis laxa caused by a de novo likely pathogenic variant in ALDH18A1: case report and literature reviewFiroz Ahmad, Pradnya Gadgil, Noopur Navandar, et al.Journal of Human Genetics|May 19, 2025
ACMG secondary findings in the Brazilian rare genomes project: insights from 5402 genome sequencingEduardo Perrone, Luiza Virmond, Antonio Victor Campos Coelho, et al.Journal of Human Genetics|June 11, 2025
Microcephaly-related global developmental delay caused by a pathogenic METTL5 splicing mutation in a Chinese familyXiaoyan Zhou, Congcong Teng, Wenjing Zhao, et al.Pageof 353