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Molecular and clinical spectra of FBXL4 deficiency.
El-Hattab, Ayman W; Dai, Hongzheng; Almannai, Mohammed; Wang, Julia; Faqeih, Eissa A; Al Asmari, Ali; Saleh, Mohammed A M; Elamin, Mohammed A O; Alfadhel, Majid; Alkuraya, Fowzan S; Hashem, Mais; Aldosary, Mazhor S; Almass, Rawan; Almutairi, Faten B; Alsagob, Maysoon; Al-Owain, Mohammed; Al-Sharfa, Shirin; Al-Hassnan, Zuhair N; Rahbeeni, Zuhair; Al-Muhaizea, Mohammed A; Makhseed, Nawal; Foskett, Gretchen K; Stevenson, David A; Gomez-Ospina, Natalia; Lee, Chung; Boles, Richard G; Schrier Vergano, Samantha A; Wortmann, Saskia B; Sperl, Wolfgang; Opladen, Thomas; Hoffmann, Georg F; Hempel, Maja; Prokisch, Holger; Alhaddad, Bader; Mayr, Johannes A; Chan, Wenyaw; Kaya, Namik; Wong, Lee-Jun C.
  • El-Hattab AW; Division of Clinical Genetics and Metabolic Disorders, Pediatric Department, Tawam Hospital, Al-Ain, United Arab Emirates.
  • Dai H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Almannai M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Wang J; Medical Scientist Training Program and Program in Developmental Biology, Baylor College of Medicine, Houston, Texas.
  • Faqeih EA; Section of Medical Genetics, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.
  • Al Asmari A; Section of Medical Genetics, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.
  • Saleh MAM; Section of Medical Genetics, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.
  • Elamin MAO; Section of Medical Genetics, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.
  • Alfadhel M; King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.
  • Alkuraya FS; Division of Genetics, Department of Pediatrics, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (NGHA), Riyadh, Saudi Arabia.
  • Hashem M; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Aldosary MS; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
  • Almass R; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Almutairi FB; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Alsagob M; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Al-Owain M; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Al-Sharfa S; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Al-Hassnan ZN; Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
  • Rahbeeni Z; Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
  • Al-Muhaizea MA; Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
  • Makhseed N; Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
  • Foskett GK; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
  • Stevenson DA; Department of Neurosciences, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
  • Gomez-Ospina N; Department of Pediatrics, Al-Jahra Hospital, Ministry of Health, Al-Jahra City, Kuwait.
  • Lee C; Department of Pediatrics, Stanford University School of Medicine, Stanford, California.
  • Boles RG; Department of Pediatrics, Stanford University School of Medicine, Stanford, California.
  • Schrier Vergano SA; Department of Pediatrics, Stanford University School of Medicine, Stanford, California.
  • Wortmann SB; Department of Pediatrics, Stanford University School of Medicine, Stanford, California.
  • Sperl W; Lineagen, Salt Lake City, Utah.
  • Opladen T; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia.
  • Hoffmann GF; Department of Pediatrics, Salzburger Landeskliniken, Paracelsus Medical University, Salzburg, Austria.
  • Hempel M; Institute of Human Genetics, Technische Universität München, Munich, Germany.
  • Prokisch H; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.
  • Alhaddad B; Department of Pediatrics, Salzburger Landeskliniken, Paracelsus Medical University, Salzburg, Austria.
  • Mayr JA; Centre for Child and Adolescent Medicine, Divisions of General Pediatrics, Neuropediatrics, and Metabolic Medicine, University Hospital, Heidelberg, Germany.
  • Chan W; Centre for Child and Adolescent Medicine, Divisions of General Pediatrics, Neuropediatrics, and Metabolic Medicine, University Hospital, Heidelberg, Germany.
  • Kaya N; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Wong LC; Institute of Human Genetics, Technische Universität München, Munich, Germany.
Hum Mutat ; 38(12): 1649-1659, 2017 12.
Article en En | MEDLINE | ID: mdl-28940506
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: ADN Mitocondrial / Encefalomiopatías Mitocondriales / Ubiquitina-Proteína Ligasas / Proteínas F-Box / Estudios de Asociación Genética Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Año: 2017 Tipo del documento: Article
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: ADN Mitocondrial / Encefalomiopatías Mitocondriales / Ubiquitina-Proteína Ligasas / Proteínas F-Box / Estudios de Asociación Genética Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Año: 2017 Tipo del documento: Article