Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Taocheng Zhou"'
Publikováno v:
Revista Brasileira de Farmacognosia. 32:593-607
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5fc3f1396c1d371a9288b958bb8cbbf9
https://doi.org/10.1007/s43450-022-00284-4
https://doi.org/10.1007/s43450-022-00284-4
Publikováno v:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 39(10)
To explore the genotype-phenotype correlation of a patient with cardio-facio-cutaneous syndrome (CFCS) due to variant of the MAP2K1 gene.DNA was extracted from peripheral blood samples of the infant and his parents and subjected to whole exome sequen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9da05d24b4315124357c5fd79c89f250
https://pubmed.ncbi.nlm.nih.gov/36184098
https://pubmed.ncbi.nlm.nih.gov/36184098
Autor:
Taocheng, Zhou, Yuchen, Wang, Dong, Liang, Lulu, Chen, Fuling, Ye, Hongyao, Cao, Guanglei, Tong
Publikováno v:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 39(9)
To explore the genetic basis of three children with unexplained mental retardation/developmental delay.Peripheral venous blood samples were collected for routine G-banding karyotyping analysis and chromosomal microarray analysis (CMA). Whole exome se
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::2ba6abf3c938ac031abf5477368742b0
https://pubmed.ncbi.nlm.nih.gov/36082562
https://pubmed.ncbi.nlm.nih.gov/36082562
Publikováno v:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 39(2)
To explore the genetic basis of three children with unexplained developmental delay/intellectual disability (DD/ID).Peripheral blood samples were collected from the patients and subjected to chromosomal microarray analysis (CMA).Patient 1 was found t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::325385b0c90a21c2686e822fa565ab17
https://pubmed.ncbi.nlm.nih.gov/35076909
https://pubmed.ncbi.nlm.nih.gov/35076909
Publikováno v:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 38(8)
To explore the genetic basis for a child with febrile seizures.Peripheral venous blood samples were taken from the child and his parents for the analysis of chromosomal karyotype and dynamic variant of the FMR1 gene. The family trio was also subjecte
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::5a2e36735f513e8080e9fc2aa898eb40
https://pubmed.ncbi.nlm.nih.gov/34365624
https://pubmed.ncbi.nlm.nih.gov/34365624