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Journal of Human Genetics|January 15, 2016
KOHBRA BRCA risk calculator (KOHCal): a model for predicting BRCA1 and BRCA2 mutations in Korean breast cancer patientsEunyoung Kang, Sue K Park, Jong Won Lee, et al.Journal of Human Genetics|December 15, 2015
Association of common variants in TOMM40/APOE/APOC1 region with human longevity in a Chinese populationRong Lin, Yunxia Zhang, Dongjing Yan, et al.Journal of Human Genetics|December 15, 2015
Noninvasive fetal trisomy detection by multiplexed semiconductor sequencing: a barcoding analysis strategyJiawei Shen, Zujia Wen, Xiaolan Qin, et al.Journal of Human Genetics|October 9, 2015
Genetic variations in vitamin D receptor were associated with the outcomes of hepatitis C virus infection among Chinese populationMeng-ping Wu, Jin-wei Zhang, Peng Huang, et al.Journal of Human Genetics|September 11, 2015
Cytidine deaminase polymorphisms and worse treatment response in normal karyotype AMLLyoung Hyo Kim, Hyun Sub Cheong, Youngil Koh, et al.Journal of Human Genetics|September 11, 2015
De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbanceChihiro Ohba, Kazuhiro Haginoya, Hitoshi Osaka, et al.Journal of Human Genetics|October 16, 2015
Analysis of the genes responsible for steroid-resistant nephrotic syndrome and/or focal segmental glomerulosclerosis in Japanese patients by whole-exome sequencing analysisDaisuke Ogino, Taeko Hashimoto, Motoshi Hattori, et al.Journal of Human Genetics|October 23, 2015
MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disabilityLaura Bianciardi, Marco Fichera, Pinella Failla, et al.Journal of Human Genetics|October 23, 2015
Diagnostic exome sequencing for patients with a family history of consanguinity: over 38% of positive results are not autosomal recessive patternZöe Powis, Kelly D Farwell, Christina L Alamillo, et al.Journal of Human Genetics|October 23, 2015
Genetic mutation analysis in Japanese patients with non-syndromic congenital heart diseaseAkiko Yoshida, Hiroko Morisaki, Mai Nakaji, et al.Pageof 352