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Journal of Human Genetics|January 17, 2004
Genetic variants in PCSK9 affect the cholesterol level in JapaneseKeisuke Shioji, Toshifumi Mannami, Yoshihiro Kokubo, et al.Journal of Human Genetics|December 9, 2003
CKN1 (MIM 216400): mutations in Cockayne syndrome type A and a new common polymorphismHenian Cao, Christina Williams, Monica Carter, et al.Journal of Human Genetics|December 16, 2003
Identification of a novel splice site mutation of CLCN5 gene and characterization of a new alternative 5' UTR end of ClC-5 mRNA in human renal tissue and leukocytesMonica Forino, Romina Graziotto, Enrica Tosetto, et al.Journal of Human Genetics|September 17, 2004
Interleukin 3 (IL3) polymorphisms associated with decreased risk of asthma and atopyByung Lae Park, Lyoung Hyo Kim, Yoo Hyun Choi, et al.Journal of Human Genetics|September 17, 2004
Feasibility of gene therapy in Gaucher disease using an adeno-associated virus vectorYoung Bin Hong, Eun Young Kim, Han-Wook Yoo, et al.Journal of Human Genetics|October 14, 2004
De novo deletions in the paired domain of PAX6 in south Indian aniridic patientsGuruswamy Neethirajan, J Martin Collinson, Subbaiah Ramasamy Krishnadas, et al.Journal of Human Genetics|March 12, 2005
Parallel minisequencing followed by multiplex matrix-assisted laser desorption/ionization mass spectrometry assay for beta-thalassemia mutationsHsin-Kai Liao, Yi-Ning Su, Hung-Yi Kao, et al.Journal of Human Genetics|March 4, 2005
Narrowed abrogation of the Angelman syndrome critical interval on human chromosome 15 does not interfere with epigenotype maintenance in somatic cellsMasayuki Haruta, Makiko Meguro, Yu-Ki Sakamoto, et al.Journal of Human Genetics|March 4, 2005
Association of eotaxin-2 gene polymorphisms with plasma eotaxin-2 concentrationJi-Won Min, June-Hyuk Lee, Choon-Sik Park, et al.Journal of Human Genetics|September 15, 2004
Phenotype-genotype correlation in two patients with 12q proximal deletionNoriko Miyake, Hidefumi Tonoki, Marta Gallego, et al.Pageof 351