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Journal of Human Genetics|May 22, 2015
Genetic association of key Th1/Th2 pathway candidate genes, IRF2, IL6, IFNGR2, STAT4 and IL4RA, with atopic asthma in the Indian populationAmrendra Kumar, Sudipta Das, Anurag Agrawal, et al.Journal of Human Genetics|May 15, 2015
Association of common variants in the calcium-sensing receptor gene with serum calcium levels in East AsiansNadimuthu Vinayagamoorthy, Seon-Hee Yim, Seung-Hyun Jung, et al.Journal of Human Genetics|April 22, 2020
Polymorphisms of BLK are associated with renal disorder in patients with systemic lupus erythematosusDongsheng Di, Qianling Ye, Xiaoxiao Wu, et al.Journal of Human Genetics|May 10, 2020
Interpretation of omics data analysesRyo Yamada, Daigo Okada, Juan Wang, et al.Journal of Human Genetics|April 10, 2020
Presence of val30Met and val122ile mutations in a patient with hereditary amyloidosisJemima A da Silva-Batista, Wilson Marques, Mayala Thayrine de J S Oliveira, et al.Journal of Human Genetics|April 12, 2020
Newborn screening of mucopolysaccharidoses: past, present, and futureNivethitha Arunkumar, Thomas J Langan, Molly Stapleton, et al.Journal of Human Genetics|October 25, 2019
Mutations in MTHFR and POLG impaired activity of the mitochondrial respiratory chain in 46-year-old twins with spastic paraparesisArnaud Wiedemann, Céline Chery, David Coelho, et al.Journal of Human Genetics|August 6, 2021
OTUD6B-associated intellectual disability: novel variants and genetic exclusion of retinal degeneration as part of a refined phenotypeGhada M H Abdel-Salam, Mohamed S Abdel-Hamid, Inas S M Sayed, et al.Journal of Human Genetics|May 25, 2021
A patient with Silver-Russell syndrome with multilocus imprinting disturbance, and Schimke immuno-osseous dysplasia unmasked by uniparental isodisomy of chromosome 2Kaori Hara-Isono, Keiko Matsubara, Riku Hamada, et al.Journal of Human Genetics|January 7, 2005
Clinical, biochemical, and cytochemical studies on a Japanese Salla disease case associated with a renal disorderKouhei Ishiwari, Masaharu Kotani, Minoru Suzuki, et al.Pageof 351