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Journal of Human Genetics|March 14, 2018
Compound heterozygous missense and deep intronic variants in NDUFAF6 unraveled by exome sequencing and mRNA analysisAlessia Catania, Anna Ardissone, Daniela Verrigni, et al.Journal of Human Genetics|February 21, 2018
Development of ultra-deep targeted RNA sequencing for analyzing X-chromosome inactivation in female Dent diseaseShogo Minamikawa, Kandai Nozu, Yoshimi Nozu, et al.Journal of Human Genetics|February 21, 2018
Biochemical validation of EHMT1 missense mutations in Kleefstra syndromeAyumi Yamada, Chikako Shimura, Yoichi ShinkaiJournal of Human Genetics|July 8, 2016
MicroRNAs in extracellular vesicles: potential cancer biomarkersTakashi Kinoshita, Kenneth W Yip, Tara Spence, et al.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.Pageof 352