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Temple-Baraitser Syndrome and Zimmermann-Laband Syndrome: one clinical entity?
Mégarbané, André; Al-Ali, Rashid; Choucair, Nancy; Lek, Monko; Wang, Ena; Ladjimi, Moncef; Rose, Catherine M; Hobeika, Remy; Macary, Yvette; Temanni, Ramzi; Jithesh, Puthen V; Chouchane, Aouatef; Sastry, Konduru S; Thomas, Remy; Tomei, Sara; Liu, Wei; Marincola, Francesco M; MacArthur, Daniel; Chouchane, Lotfi.
Afiliación
  • Mégarbané A; Institut Jérôme Lejeune, Paris, France. andre.megarbane@yahoo.fr.
  • Al-Ali R; Bioinformatics Division, Sidra Medical & Research Center, Doha, Qatar.
  • Choucair N; Institut Jérôme Lejeune, Paris, France.
  • Lek M; Medical and Population Genetics, Broad Institute of Harvard Medical School, Boston, USA.
  • Wang E; Genomics Core Laboratory, Translational Medicine Division, Sidra Medical & Research Center, Doha, Qatar.
  • Ladjimi M; Laboratory of Protein Chemistry, Weill Cornell Medicine-Qatar, Doha, Qatar.
  • Rose CM; POSSUMweb, Victorian Clinical Genetics Service and Murdoch Childrens Research Institute, The Royal Children's Hospital, Parkville, VIC, Australia.
  • Hobeika R; Institut Jérôme Lejeune, Paris, France.
  • Macary Y; Institut Jérôme Lejeune, Paris, France.
  • Temanni R; Bioinformatics Division, Sidra Medical & Research Center, Doha, Qatar.
  • Jithesh PV; Bioinformatics Division, Sidra Medical & Research Center, Doha, Qatar.
  • Chouchane A; Dermatology Research Group, Translational Medicine Division, Sidra Medical & Research Center, Doha, Qatar.
  • Sastry KS; Dermatology Research Group, Translational Medicine Division, Sidra Medical & Research Center, Doha, Qatar.
  • Thomas R; Laboratory of Genetic Medicine and Immunology, Weill Cornell Medicine-Qatar, Education City, Qatar Foundation, Doha, Qatar.
  • Tomei S; Genomics Core Laboratory, Translational Medicine Division, Sidra Medical & Research Center, Doha, Qatar.
  • Liu W; Genomics Core Laboratory, Translational Medicine Division, Sidra Medical & Research Center, Doha, Qatar.
  • Marincola FM; Research Office, Sidra Medical & Research Center, Doha, Qatar.
  • MacArthur D; Medical and Population Genetics, Broad Institute of Harvard Medical School, Boston, USA.
  • Chouchane L; Laboratory of Genetic Medicine and Immunology, Weill Cornell Medicine-Qatar, Education City, Qatar Foundation, Doha, Qatar. loc2008@qatar-med.cornell.edu.
BMC Med Genet ; 17(1): 42, 2016 Jun 10.
Article en En | MEDLINE | ID: mdl-27282200

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Pulgar / Anomalías Múltiples / Deformidades Congénitas de la Mano / Hallux / Anomalías Craneofaciales / Fibromatosis Gingival / Discapacidad Intelectual / Uñas Malformadas Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans / Infant / Male Idioma: En Revista: BMC Med Genet Asunto de la revista: GENETICA MEDICA Año: 2016 Tipo del documento: Article País de afiliación: Francia

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Pulgar / Anomalías Múltiples / Deformidades Congénitas de la Mano / Hallux / Anomalías Craneofaciales / Fibromatosis Gingival / Discapacidad Intelectual / Uñas Malformadas Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans / Infant / Male Idioma: En Revista: BMC Med Genet Asunto de la revista: GENETICA MEDICA Año: 2016 Tipo del documento: Article País de afiliación: Francia