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Recessive mutations in COL25A1 are a cause of congenital cranial dysinnervation disorder.
Shinwari, Jameela M A; Khan, Arif; Awad, Salma; Shinwari, Zakia; Alaiya, Ayodele; Alanazi, Mohamad; Tahir, Asma; Poizat, Coralie; Al Tassan, Nada.
Afiliación
  • Shinwari JM; Department of Genetics, Research Center, King Faisal Specialist Hospital and Research Centre, P.O. Box 3354, Riyadh 11211, Saudi Arabia.
  • Khan A; Department of Genetics, Research Center, King Faisal Specialist Hospital and Research Centre, P.O. Box 3354, Riyadh 11211, Saudi Arabia; Division of Pediatric Ophthalmology, King Khaled Eye Specialist Hospital, P.O. Box 7191, Riyadh 11462, Saudi Arabia.
  • Awad S; Cardiovascular Research Program, Research Center, King Faisal Specialist Hospital and Research Centre, P.O. Box 3354, Riyadh 11211, Saudi Arabia.
  • Shinwari Z; Stem Cell and Tissue Engineering Program, Research Center, King Faisal Specialist Hospital and Research Centre, P.O. Box 3354, Riyadh 11211, Saudi Arabia.
  • Alaiya A; Stem Cell and Tissue Engineering Program, Research Center, King Faisal Specialist Hospital and Research Centre, P.O. Box 3354, Riyadh 11211, Saudi Arabia.
  • Alanazi M; Genome Research Chair, King Saud University, P.O. Box 2455, Riyadh 11451, Saudi Arabia.
  • Tahir A; Department of Genetics, Research Center, King Faisal Specialist Hospital and Research Centre, P.O. Box 3354, Riyadh 11211, Saudi Arabia.
  • Poizat C; Cardiovascular Research Program, Research Center, King Faisal Specialist Hospital and Research Centre, P.O. Box 3354, Riyadh 11211, Saudi Arabia.
  • Al Tassan N; Department of Genetics, Research Center, King Faisal Specialist Hospital and Research Centre, P.O. Box 3354, Riyadh 11211, Saudi Arabia. Electronic address: naltassan@kfshrc.edu.sa.
Am J Hum Genet ; 96(1): 147-52, 2015 Jan 08.
Article en En | MEDLINE | ID: mdl-25500261
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Trastornos de la Motilidad Ocular / Enfermedades del Nervio Oculomotor / Colágenos no Fibrilares / Genes Recesivos Tipo de estudio: Guideline Límite: Child / Female / Humans / Male Idioma: En Revista: Am J Hum Genet Año: 2015 Tipo del documento: Article País de afiliación: Arabia Saudita
Texto completo
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Trastornos de la Motilidad Ocular / Enfermedades del Nervio Oculomotor / Colágenos no Fibrilares / Genes Recesivos Tipo de estudio: Guideline Límite: Child / Female / Humans / Male Idioma: En Revista: Am J Hum Genet Año: 2015 Tipo del documento: Article País de afiliación: Arabia Saudita