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Accelerating matchmaking of novel dysmorphology syndromes through clinical and genomic characterization of a large cohort.
Shaheen, Ranad; Patel, Nisha; Shamseldin, Hanan; Alzahrani, Fatema; Al-Yamany, Ruah; ALMoisheer, Agaadir; Ewida, Nour; Anazi, Shamsa; Alnemer, Maha; Elsheikh, Mohamed; Alfaleh, Khaled; Alshammari, Muneera; Alhashem, Amal; Alangari, Abdullah A; Salih, Mustafa A; Kircher, Martin; Daza, Riza M; Ibrahim, Niema; Wakil, Salma M; Alaqeel, Ahmed; Altowaijri, Ikhlas; Shendure, Jay; Al-Habib, Amro; Faqieh, Eissa; Alkuraya, Fowzan S.
  • Shaheen R; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Patel N; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Shamseldin H; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Alzahrani F; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Al-Yamany R; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • ALMoisheer A; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Ewida N; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Anazi S; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Alnemer M; Department of Obstetrics and Gynecology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Elsheikh M; Department of Obstetrics and Gynecology, Suliman AlHabib Hospital, Riyadh, Saudi Arabia.
  • Alfaleh K; Department of Obstetrics and Gynecology, Suliman AlHabib Hospital, Riyadh, Saudi Arabia.
  • Alshammari M; Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
  • Alhashem A; Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
  • Alangari AA; Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.
  • Salih MA; Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
  • Kircher M; Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
  • Daza RM; Department of Genome Sciences, University of Washington, Seattle, Washington, USA.
  • Ibrahim N; Department of Genome Sciences, University of Washington, Seattle, Washington, USA.
  • Wakil SM; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Alaqeel A; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Altowaijri I; Department of Surgery, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
  • Shendure J; Department of Surgery, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
  • Al-Habib A; Department of Genome Sciences, University of Washington, Seattle, Washington, USA.
  • Faqieh E; Department of Surgery, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
  • Alkuraya FS; Department of Pediatrics, King Fahad Medical City, Riyadh, Saudi Arabia.
Genet Med ; 18(7): 686-95, 2016 07.
Article en En | MEDLINE | ID: mdl-26633546
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Anomalías Múltiples / Genómica / Exoma / Hipoglucemia / Microcefalia Tipo de estudio: Diagnostic_studies Límite: Female / Humans / Male Idioma: En Año: 2016 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Anomalías Múltiples / Genómica / Exoma / Hipoglucemia / Microcefalia Tipo de estudio: Diagnostic_studies Límite: Female / Humans / Male Idioma: En Año: 2016 Tipo del documento: Article