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Journal of Human Genetics|December 13, 2019
The associations between three genome-wide risk variants for serum C-peptide of T1D and autoantibody-positive T1D risk, and clinical characteristics in Chinese populationYingjie Feng, Yuyue Zhang, Yang Chen, et al.Journal of Human Genetics|February 9, 2020
Erratum to: Denaturing high-performance liquid chromatography screening of the long QT syndrome-related cardiac sodium and potassium channel genes and identification of novel mutations and single nucleotide polymorphismsLing-Ping Lai, Yi-Ning Su, Fon-Jou Hsieh, et al.Journal of Human Genetics|January 22, 2020
Genome-wide meta-analysis associates GPSM1 with type 2 diabetes, a plausible gene involved in skeletal muscle functionQiuju Ding, Amelia Li Min Tan, E J Parra, et al.Journal of Human Genetics|October 29, 2019
Further evidence of involvement of TMEM132E in autosomal recessive nonsyndromic hearing impairmentKhurram Liaqat, Shabir Hussain, Muhammad Bilal, et al.Journal of Human Genetics|October 29, 2019
Alazami syndrome: the first case of papillary thyroid carcinomaIvan Ivanovski, Stefano Giuseppe Caraffi, Elisa Magnani, et al.Journal of Human Genetics|January 24, 2019
A distinct neurodevelopmental syndrome with intellectual disability, autism spectrum disorder, characteristic facies, and macrocephaly is caused by defects in CHD8Heba Yasin, William T Gibson, Sylvie Langlois, et al.Journal of Human Genetics|February 8, 2018
Novel de novo mutation affecting two adjacent aminoacids in the EED gene in a patient with Weaver syndromeRobert Smigiel, Anna Biernacka, Mateusz Biela, et al.Journal of Human Genetics|February 8, 2018
Clinical and molecular characteristics of newly reported mitochondrial disease entity caused by biallelic PARS2 mutationsElżbieta Ciara, Dariusz Rokicki, Michal Lazniewski, et al.Journal of Human Genetics|January 25, 2018
Novel compound heterozygous DPH1 mutations in a patient with the unique clinical features of airway obstruction and external genital abnormalitiesJunya Nakajima, Shingo Oana, Tomohiro Sakaguchi, et al.Journal of Human Genetics|January 10, 2018
A severely short-statured girl with 47,XX, + 14/46,XX,upd(14)mat, mosaicismKikumi Ushijima, Syuichi Yatsuga, Takako Matsumoto, et al.Pageof 352