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Expanding the clinical and genetic spectra of NKX6-2-related disorder.
Baldi, C; Bertoli-Avella, A M; Al-Sannaa, N; Alfadhel, M; Al-Thihli, K; Alameer, S; Elmonairy, A A; Al Shamsi, A M; Abdelrahman, H A; Al-Gazali, L; Shawli, A; Al-Hakami, F; Yavuz, H; Kandaswamy, K K; Rolfs, A; Brandau, O; Bauer, P.
Afiliação
  • Baldi C; Centogene AG, Rostock, Germany.
  • Bertoli-Avella AM; Centogene AG, Rostock, Germany.
  • Al-Sannaa N; John Hopkins Aramco Health Care, Pediatric Services, Dhahran, Saudi Arabia.
  • Alfadhel M; King Abdullah International Medical Research Centre, King Saud Bin Abdulaziz University for Health Sciences, Division of Genetics, Department of Pediatrics, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (NGHA), Riyadh, Saudi Arabia.
  • Al-Thihli K; Department of Genetics, Sultan Qaboos University Hospital, Muscat, Oman.
  • Alameer S; King Saud Bin Abdulaziz University for Health Sciences, Department of Pediatrics, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (NGHA), Jeddah, Saudi Arabia.
  • Elmonairy AA; Kuwait Medical Genetics Center, Kuwait.
  • Al Shamsi AM; Department of Paediatrics, Tawam Hospital, Al-Ain, United Arab Emirates.
  • Abdelrahman HA; Department of Pathology, College of Medicine and Health Sciences, United Arab Emirates University Al Ain, Al-Ain, United Arab Emirates.
  • Al-Gazali L; Department of Pediatrics, College of Medicine and Health Sciences, United Arab Emirates University Al Ain, United Arab Emirates.
  • Shawli A; King Saud Bin Abdulaziz University for Health Sciences, Department of Pediatrics, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (NGHA), Jeddah, Saudi Arabia.
  • Al-Hakami F; Molecular Medicine Section, King Saud Bin Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia.
  • Yavuz H; Molecular Medicine Section, King Saud Bin Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia.
  • Kandaswamy KK; Molecular Medicine Section, King Abdulaziz Medical City-WR, Jeddah, Saudi Arabia.
  • Rolfs A; Centogene AG, Rostock, Germany.
  • Brandau O; Centogene AG, Rostock, Germany.
  • Bauer P; Centogene AG, Rostock, Germany.
Clin Genet ; 93(5): 1087-1092, 2018 05.
Article em En | MEDLINE | ID: mdl-29388673
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Convulsões / Proteínas de Homeodomínio / Predisposição Genética para Doença / Doenças Desmielinizantes Hereditárias do Sistema Nervoso Central Tipo de estudo: Prognostic_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Convulsões / Proteínas de Homeodomínio / Predisposição Genética para Doença / Doenças Desmielinizantes Hereditárias do Sistema Nervoso Central Tipo de estudo: Prognostic_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article