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L1 Syndrome Prenatal Diagnosis Supplemented by Functional Analysis of One L1CAM Gene Missense Variant.
Wang, Ping; Liao, Hong; Wang, Quyou; Xie, Hanbing; Wang, He; Yang, Mei; Liu, Shanling.
Afiliação
  • Wang P; Department of Obstetrics & Gynecology, West China Second University Hospital, Sichuan University, No. 20, Section 3, Renminnan Road, Chengdu, 610041, Sichuan, China.
  • Liao H; Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Sichuan University, Chengdu, Sichuan, China.
  • Wang Q; Department of Obstetrics & Gynecology, West China Second University Hospital, Sichuan University, No. 20, Section 3, Renminnan Road, Chengdu, 610041, Sichuan, China.
  • Xie H; Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Sichuan University, Chengdu, Sichuan, China.
  • Wang H; Department of Obstetrics & Gynecology, West China Second University Hospital, Sichuan University, No. 20, Section 3, Renminnan Road, Chengdu, 610041, Sichuan, China.
  • Yang M; Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Sichuan University, Chengdu, Sichuan, China.
  • Liu S; Department of Obstetrics & Gynecology, West China Second University Hospital, Sichuan University, No. 20, Section 3, Renminnan Road, Chengdu, 610041, Sichuan, China.
Reprod Sci ; 29(3): 768-780, 2022 03.
Article em En | MEDLINE | ID: mdl-34914080
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Paraplegia Espástica Hereditária / Doenças Genéticas Ligadas ao Cromossomo X / Molécula L1 de Adesão de Célula Nervosa / Deficiência Intelectual Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adult / Female / Humans / Pregnancy País/Região como assunto: Asia Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Paraplegia Espástica Hereditária / Doenças Genéticas Ligadas ao Cromossomo X / Molécula L1 de Adesão de Célula Nervosa / Deficiência Intelectual Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adult / Female / Humans / Pregnancy País/Região como assunto: Asia Idioma: En Ano de publicação: 2022 Tipo de documento: Article