Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Cuiyun, Qin"'
Publikováno v:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 39(10)
To explore the genetic etiology of a child featuring global developmental and mental retardation.Chromosome G-banding karyotype analysis, copy number variation sequencing (CNV-seq) and high-resolution chromosome banding were used to screen the genomi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ef7b9991e9def05d9129b6091e11d7b6
https://pubmed.ncbi.nlm.nih.gov/36184102
https://pubmed.ncbi.nlm.nih.gov/36184102
Autor:
Rong, Qiang, Wuzhong, Yu, Na, Cai, Xiaobin, Wang, Cuiyun, Qin, Liping, Zhang, Xiaoping, Ma, Lin, Wang, Xuanxing, Shi, Hui, Liu, Xu, Li, Xiang, Wang, Jiang, He
Publikováno v:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 31(1)
To investigate the feature of phenylalanine hydroxylase (PAH) gene mutations and provide guidance for genetic and prenatal diagnosis of patients with phenylketonuria from Shaanxi.For 55 patients whose blood Phe concentration was over 2.0 mg/dL, poten
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f54ed9acd624060af36af39242809dd0
https://pubmed.ncbi.nlm.nih.gov/24510568
https://pubmed.ncbi.nlm.nih.gov/24510568