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BMC Medical Genetics|May 13, 2010
Submicroscopic subtelomeric aberrations in Chinese patients with unexplained developmental delay/mental retardationYe Wu, Taoyun Ji, Jingmin Wang, et al.Plos One|April 18, 2012
High proportion of 22q13 deletions and SHANK3 mutations in Chinese patients with intellectual disabilityXiaohong Gong, Yu-Wu Jiang, Xin Zhang, et al.Human Molecular Genetics|March 24, 2017
Efficient CNV breakpoint analysis reveals unexpected structural complexity and correlation of dosage-sensitive genes with clinical severity in genomic disordersLing Zhang, Jingmin Wang, Cheng Zhang, et al.BMC Pediatrics|July 16, 2015
Fragile X syndrome screening in Chinese children with unknown intellectual developmental disorderXiaoli Chen, Jingmin Wang, Hua Xie, et al.International Journal of Genomics|July 31, 2018
Identification of Novel ARSA Mutations in Chinese Patients with Metachromatic LeukodystrophyLi Chen, Huifang Yan, Binbin Cao, et al.Human Genetics|February 28, 2012
NIPA2 located in 15q11.2 is mutated in patients with childhood absence epilepsyYuwu Jiang, Yuehua Zhang, Pingping Zhang, et al.Mitochondrion|February 6, 2007
Screening of common mitochondrial mutations in Chinese patients with mitochondrial encephalomyopathiesYu Qi, Ying Zhang, Zhaoxia Wang, et al.Scientific Reports|October 11, 2018
Deletion of exon 4 in LAMA2 is the most frequent mutation in Chinese patients with laminin α2-related muscular dystrophyLin Ge, Aijie Liu, Kai Gao, et al.Cell Research|October 15, 2014
Postzygotic single-nucleotide mosaicisms in whole-genome sequences of clinically unremarkable individualsAugust Y Huang, Xiaojing Xu, Adam Y Ye, et al.Journal of Medical Genetics|June 24, 2020
Clinical spectrum and genetic variations of LMNA-related muscular dystrophies in a large cohort of Chinese patientsYanbin Fan, Dandan Tan, Danyu Song, et al.Pageof 12