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Journal of Human Genetics|January 13, 2017
Novel GATAD2B loss-of-function mutations cause intellectual disability in two unrelated casesXiaomei Luo, Yongyi Zou, Bo Tan, et al.Journal of Human Genetics|May 9, 2014
Complete mitogenome analysis of indigenous populations in Mexico: its relevance for the origin of MesoamericansFuzuki Mizuno, Jun Gojobori, Li Wang, et al.Journal of Human Genetics|February 28, 2021
Biallelic CDK9 variants as a cause of a new multiple-malformation syndrome with retinal dystrophy mimicking the CHARGE syndromeSachiko Nishina, Katsuhiro Hosono, Shizuka Ishitani, et al.Journal of Human Genetics|February 28, 2021
Loss of BRCA1 expression and morphological features associated with BRCA1 promoter methylation status in triple-negative breast cancerArisa Morizono, Masahiko Tanabe, Masako Ikemura, et al.Journal of Human Genetics|March 3, 2021
Next-generation sequencing in patients with familial FSGS: first report of collagen gene mutations in Tunisian patientsSawssan Ammar, Houda Kanoun, Khawla Kammoun, et al.Journal of Human Genetics|March 20, 2021
Analysis of genetic risk factors in Japanese patients with Parkinson's diseaseYuhei Kanaya, Kodai Kume, Hiroyuki Morino, et al.Journal of Human Genetics|January 10, 2014
A shared haplotype for dentatorubropallidoluysian atrophy (DRPLA) in Italian families testifies of the recent introduction of the mutationLiana Veneziano, Elide Mantuano, Claudio Catalli, et al.Journal of Human Genetics|January 10, 2014
Truncated UDP-glucuronosyltransferase (UGT) from a Crigler-Najjar syndrome type II patient colocalizes with intact UGT in the endoplasmic reticulumMasahiro Suzuki, Marie Hirata, Miho Takagi, et al.Journal of Human Genetics|January 10, 2014
The mutation spectrum of the phenylalanine hydroxylase (PAH) gene and associated haplotypes reveal ethnic heterogeneity in the Taiwanese populationYing Liang, Miao-Zeng Huang, Cheng-Yi Cheng, et al.Journal of Human Genetics|November 16, 2012
Strong influence of variants near MC4R on adiposity in children and adults: a cross-sectional study in Indian populationOm Prakash Dwivedi, Rubina Tabassum, Ganesh Chauhan, et al.Pageof 351