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Journal of Human Genetics|June 24, 2016
Long-term enzyme replacement therapy for Fabry disease: efficacy and unmet needs in cardiac and renal outcomesJa Hye Kim, Beom Hee Lee, Ja Hyang Cho, et al.Journal of Human Genetics|June 24, 2016
PAX4 R192H and P321H polymorphisms in type 2 diabetes and their functional defectsJatuporn Sujjitjoon, Suwattanee Kooptiwut, Nalinee Chongjaroen, et al.Journal of Human Genetics|March 4, 2018
Clinically diverse phenotypes and genotypes of patients with branchio-oto-renal syndromeAi Unzaki, Naoya Morisada, Kandai Nozu, et al.Journal of Human Genetics|January 5, 2002
ABCC6 gene polymorphism associated with variation in plasma lipoproteinsJ Wang, S Near, K Young, et al.Journal of Human Genetics|January 5, 2002
Heterozygous 17-bp deletion in the forkhead transcription factor gene, FOXL2, in a Japanese family with blepharophimosis-ptosis-epicanthus inversus syndromeT Yamada, S Hayasaka, M Matsumoto, et al.Journal of Human Genetics|February 7, 2002
Novel missense mutations in the human lysosomal sialidase gene in sialidosis patients and prediction of structural alterations of mutant enzymesKohji Itoh, Yasunori Naganawa, Fumiko Matsuzawa, et al.Journal of Human Genetics|April 27, 2001
Effects of hepatic lipase gene promoter nucleotide variations on serum HDL cholesterol concentration in the general Japanese populationA Inazu, Y Nishimura, Y Terada, et al.Journal of Human Genetics|April 27, 2001
The C825T polymorphism in the G-protein beta3 subunit gene and diabetic complications in IDDM patientsN S Shcherbak, E I SchwartzJournal of Human Genetics|April 27, 2001
Comparative analysis of HLA restriction and cytokine production in hepatitis B surface antigen-specific T cells from low- and high-antibody responders in vaccinated humansM Wataya, T Sano, N Kamikawaji, et al.Journal of Human Genetics|April 27, 2001
Mitochondrial DNA polymorphisms in Yunnan nationalities in ChinaY P Qian, Z T Chu, Q Dai, et al.Pageof 353