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Journal of Human Genetics|March 24, 2019
A novel TUFM homozygous variant in a child with mitochondrial cardiomyopathy expands the phenotype of combined oxidative phosphorylation deficiency 4Tova Hershkovitz, Alina Kurolap, Claudia Gonzaga-Jauregui, et al.Journal of Human Genetics|July 20, 2019
Identification of a missense variant in CLDN2 in obstructive azoospermiaMasomeh Askari, Razieh Karamzadeh, Naser Ansari-Pour, et al.Journal of Human Genetics|October 23, 2022
Concurrence of novel mutations causing Gilbert's and Dubin-Johnson syndrome with poor clinical outcomes in a Han Chinese familyTai-Cheng Zhou, Xiao Li, Hui Li, et al.Journal of Human Genetics|September 13, 2022
Identity-by-descent analysis of CMTX3 links three families through a common founderLyndal Henden, Bianca R Grosz, Melina Ellis, et al.Journal of Human Genetics|June 22, 2012
USH1K, a novel locus for type I Usher syndrome, maps to chromosome 10p11.21-q21.1Thomas J Jaworek, Rashid Bhatti, Noreen Latief, et al.Journal of Human Genetics|October 12, 2012
Haplotype analysis of the CAG and CCG repeats in 21 Brazilian families with Huntington's diseaseLuciana de A Agostinho, Catielly F Rocha, Enrique Medina-Acosta, et al.Journal of Human Genetics|October 12, 2012
HOX gene methylation status analysis in patients with hereditary breast cancerBrunella Pilato, Rosamaria Pinto, Simona De Summa, et al.Journal of Human Genetics|August 3, 2012
Association of melanocortin 1 receptor gene (MC1R) polymorphisms with skin reflectance and freckles in JapaneseKyoko Yamaguchi, Chiaki Watanabe, Akira Kawaguchi, et al.Journal of Human Genetics|August 31, 2012
Tandem repeat sequences evolutionarily related to SVA-type retrotransposons are expanded in the centromere region of the western hoolock gibbon, a small apeToru Hara, Yuriko Hirai, Israt Jahan, et al.Journal of Human Genetics|July 27, 2012
Novel PNPLA2 gene mutations in Chinese Han patients causing neutral lipid storage disease with myopathyPengfei Lin, Wei Li, Bing Wen, et al.Pageof 353