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Identification of a novel compound heterozygous SMG9 variants in a Chinese family with heart and brain malformation syndrome using whole exome sequencing.
Yang, Qi; Qin, Zailong; Zhang, Qinle; Yi, Shang; Yi, Sheng; Luo, Jingsi.
Affiliation
  • Yang Q; Guangxi Key Laboratory of Birth Defects Research and Prevention, Guangxi Key Laboratory of Reproductive Health and Birth Defects Prevention, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, No. 59, Xiangzhu Road, Nanning, China.
  • Qin Z; Department of Genetic and Metabolic Central Laboratory, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.
  • Zhang Q; Guangxi Key Laboratory of Birth Defects Research and Prevention, Guangxi Key Laboratory of Reproductive Health and Birth Defects Prevention, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, No. 59, Xiangzhu Road, Nanning, China.
  • Yi S; Department of Genetic and Metabolic Central Laboratory, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.
  • Yi S; Guangxi Key Laboratory of Birth Defects Research and Prevention, Guangxi Key Laboratory of Reproductive Health and Birth Defects Prevention, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, No. 59, Xiangzhu Road, Nanning, China.
  • Luo J; Department of Genetic and Metabolic Central Laboratory, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.
BMC Med Genomics ; 15(1): 67, 2022 03 23.
Article in En | MEDLINE | ID: mdl-35321723
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Abnormalities, Multiple / Intellectual Disability / Microcephaly Type of study: Diagnostic_studies / Prognostic_studies Limits: Humans Country/Region as subject: Asia Language: En Journal: BMC Med Genomics Journal subject: GENETICA MEDICA Year: 2022 Document type: Article Affiliation country: Country of publication:
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Abnormalities, Multiple / Intellectual Disability / Microcephaly Type of study: Diagnostic_studies / Prognostic_studies Limits: Humans Country/Region as subject: Asia Language: En Journal: BMC Med Genomics Journal subject: GENETICA MEDICA Year: 2022 Document type: Article Affiliation country: Country of publication: