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Clinical utility gene card for: Cornelia de Lange syndrome.
Ramos, Feliciano J; Puisac, Beatriz; Baquero-Montoya, Carolina; Gil-Rodríguez, Ma Concepción; Bueno, Inés; Deardorff, Matthew A; Hennekam, Raoul C; Kaiser, Frank J; Krantz, Ian D; Musio, Antonio; Selicorni, Angelo; FitzPatrick, David R; Pié, Juan.
Afiliación
  • Ramos FJ; Clinical Genetics Unit, Service of Paediatrics, University Hospital 'Lozano Blesa' Medical School, University of Zaragoza, CIBERER-GCV and IIS-Aragón, Zaragoza, Spain.
  • Puisac B; Unit of Clinical Genetics and Functional Genomics, Departments of Pharmacology-Physiology and Paediatrics Medical School, University of Zaragoza, CIBERER-GCV and IIS-Aragón, Zaragoza, Spain.
  • Baquero-Montoya C; Unit of Clinical Genetics and Functional Genomics, Departments of Pharmacology-Physiology and Paediatrics Medical School, University of Zaragoza, CIBERER-GCV and IIS-Aragón, Zaragoza, Spain.
  • Gil-Rodríguez MC; Department of Paediatrics, Hospital Pablo Tobón Uribe, Medellín, Colombia.
  • Bueno I; Unit of Clinical Genetics and Functional Genomics, Departments of Pharmacology-Physiology and Paediatrics Medical School, University of Zaragoza, CIBERER-GCV and IIS-Aragón, Zaragoza, Spain.
  • Deardorff MA; Clinical Genetics Unit, Service of Paediatrics, University Hospital 'Lozano Blesa' Medical School, University of Zaragoza, CIBERER-GCV and IIS-Aragón, Zaragoza, Spain.
  • Hennekam RC; Department of Paediatrics, The Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
  • Kaiser FJ; Department of Paediatrics, Academic Medical Centre, Amsterdam, The Netherlands.
  • Krantz ID; Sektion für Funktionelle Genetik am Institut für Humangenetik, Universität zu Lübeck, Lübeck, Germany.
  • Musio A; Division of Human Genetics, The Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
  • Selicorni A; Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche, Pisa, Italy.
  • FitzPatrick DR; Pediatric Genetic Clinic Unit, MBBM Foundation University of Milano Bicocca, San Gerardo Hospital, Monza, Italy.
  • Pié J; MRC Human Genetics Unit - MRC IGMM, University of Edinburgh, Edinburgh, UK.
Eur J Hum Genet ; 23(10)2015 Oct.
Article en En | MEDLINE | ID: mdl-25537356

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Síndrome de Cornelia de Lange Límite: Female / Humans / Male Idioma: En Revista: Eur J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2015 Tipo del documento: Article País de afiliación: España

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Síndrome de Cornelia de Lange Límite: Female / Humans / Male Idioma: En Revista: Eur J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2015 Tipo del documento: Article País de afiliación: España