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Journal of Human Genetics|December 17, 2010
Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutationsKinga Hadzsiev, Noemi Polgar, Judit Bene, et al.Journal of Human Genetics|November 12, 2010
X-linked adrenoleukodystrophy: diagnostic and follow-up system in JapanNobuyuki Shimozawa, Ayako Honda, Naomi Kajiwara, et al.Journal of Human Genetics|March 11, 2011
Composite likelihood-based meta-analysis of breast cancer association studiesIoannis Politopoulos, Jane Gibson, William Tapper, et al.Journal of Human Genetics|May 21, 2010
The discovery of human genetic variations and their use as disease markers: past, present and futureChee Seng Ku, En Yun Loy, Agus Salim, et al.Journal of Human Genetics|May 21, 2010
Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral centerYasuhiro Takeshima, Mariko Yagi, Yo Okizuka, et al.Journal of Human Genetics|May 28, 2010
Identification of alternatively spliced GRIM-19 mRNA in kidney cancer tissuesXuelian He, Xinmin CaoJournal of Human Genetics|May 28, 2010
TRPV4-pathy, a novel channelopathy affecting diverse systemsJin Dai, Tae-Joon Cho, Sheila Unger, et al.Journal of Human Genetics|September 17, 2010
Mutation analysis of the MYO7A and CDH23 genes in Japanese patients with Usher syndrome type 1Hiroshi Nakanishi, Masafumi Ohtsubo, Satoshi Iwasaki, et al.Journal of Human Genetics|September 17, 2010
The novel and independent association between single-point SNP of NPHP4 gene and renal function in non-diabetic Japanese population: the Takahata studyTsuneo Konta, Satoshi Takasaki, Kazunobu Ichikawa, et al.Journal of Human Genetics|September 3, 2010
Mutations in CLDN14 are associated with different hearing thresholdsRasheeda Bashir, Amara Fatima, Sadaf NazPageof 351