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Journal of Human Genetics|December 2, 2016
Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemiaMaría L Couce, Luís Aldamiz-Echevarría, María A Bueno, et al.Journal of Human Genetics|October 28, 2016
Cryptic exon activation in SLC12A3 in Gitelman syndromeKandai Nozu, Yoshimi Nozu, Keita Nakanishi, et al.Journal of Human Genetics|February 10, 2017
Rapid and cost-effective high-throughput sequencing for identification of germline mutations of BRCA1 and BRCA2Somayeh Ahmadloo, Hirofumi Nakaoka, Takahide Hayano, et al.Journal of Human Genetics|January 20, 2017
Genome-wide association study using the ethnicity-specific Japonica array: identification of new susceptibility loci for cold medicine-related Stevens-Johnson syndrome with severe ocular complicationsMayumi Ueta, Hiromi Sawai, Ryosei Shingaki, et al.Journal of Human Genetics|February 3, 2017
Detecting disease association with rare variants in case-parents studiesYu-Mei Li, Yang XiangJournal of Human Genetics|February 3, 2017
Mutations in methionyl-tRNA synthetase gene in a Chinese family with interstitial lung and liver disease, postnatal growth failure and anemiaYu Sun, Guorui Hu, Jihang Luo, et al.Journal of Human Genetics|February 3, 2017
Single-nucleotide variant proportion in genes: a new concept to explore major depression based on DNA sequencing dataChenglong Yu, Bernhard T Baune, Julio Licinio, et al.Journal of Human Genetics|August 9, 2003
Association of genetic variation of the RIL gene, encoding a PDZ-LIM domain protein and localized in 5q31.1, with low bone mineral density in adult Japanese womenFumihiro Omasu, Yoichi Ezura, Mitsuko Kajita, et al.Journal of Human Genetics|August 9, 2003
Genetic deficiency of a mitochondrial aldehyde dehydrogenase increases serum lipid peroxides in community-dwelling femalesIkuroh Ohsawa, Kouzin Kamino, Keiko Nagasaka, et al.Journal of Human Genetics|March 8, 2003
Physical map and haplotype analysis of 16q-linked autosomal dominant cerebellar ataxia (ADCA) type III in JapanMingshun Li, Kinya Ishikawa, Shuta Toru, et al.Pageof 353