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Journal of Human Genetics|June 26, 2015
Chaperone therapy for Krabbe disease: potential for late-onset GALC mutationsMohammad Arif Hossain, Katsumi Higaki, Seiji Saito, et al.Journal of Human Genetics|July 3, 2015
GIGYF2 mutation in late-onset Parkinson's disease with cognitive impairmentJavier Ruiz-Martinez, Catharine E Krebs, Vladimir Makarov, et al.Journal of Human Genetics|May 29, 2015
Compound heterozygous GFM2 mutations with Leigh syndrome complicated by arthrogryposis multiplex congenitaShinobu Fukumura, Chihiro Ohba, Toshihide Watanabe, et al.Journal of Human Genetics|June 5, 2015
Functional and genetic diversity of leukocyte immunoglobulin-like receptor and implication for disease associationsKouyuki Hirayasu, Hisashi AraseJournal of Human Genetics|April 12, 2020
Genotype-phenotype correlations and effect of mutation location in Japanese CADASIL patientsMao Mukai, Ikuko Mizuta, Akiko Watanabe-Hosomi, et al.Journal of Human Genetics|June 3, 2020
Identification of a deep intronic POLR3A variant causing inclusion of a pseudoexon derived from an Alu element in Pol III-related leukodystrophyTakuya Hiraide, Mitsuko Nakashima, Takahiro Ikeda, et al.Journal of Human Genetics|June 27, 2003
A mutation analysis of the BRCA1 gene in 140 families from southeast France with a history of breast and/or ovarian cancerPhilippe Rostagno, Jeanine Gioanni, Eliane Garino, et al.Journal of Human Genetics|July 10, 2003
Effect of the factor VII R353Q missense mutation on plasma apolipoprotein B levels: impact of visceral obesityMarie-Thérèse Berthier, Alain Houde, Jean Bergeron, et al.Journal of Human Genetics|July 14, 2001
Gene fusion involving HMGIC is a frequent aberration in uterine leiomyomasN Mine, K Kurose, H Nagai, et al.Pageof 353