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Evaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial Phenotypes.
Latorre-Pellicer, Ana; Ascaso, Ángela; Trujillano, Laura; Gil-Salvador, Marta; Arnedo, Maria; Lucia-Campos, Cristina; Antoñanzas-Pérez, Rebeca; Marcos-Alcalde, Iñigo; Parenti, Ilaria; Bueno-Lozano, Gloria; Musio, Antonio; Puisac, Beatriz; Kaiser, Frank J; Ramos, Feliciano J; Gómez-Puertas, Paulino; Pié, Juan.
Afiliación
  • Latorre-Pellicer A; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, University of Zaragoza, CIBERER-GCV02 and ISS-Aragon, E-50009 Zaragoza, Spain.
  • Ascaso Á; Department of Paediatrics, Hospital Clínico Universitario "Lozano Blesa", E-50009 Zaragoza, Spain.
  • Trujillano L; Department of Paediatrics, Hospital Clínico Universitario "Lozano Blesa", E-50009 Zaragoza, Spain.
  • Gil-Salvador M; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, University of Zaragoza, CIBERER-GCV02 and ISS-Aragon, E-50009 Zaragoza, Spain.
  • Arnedo M; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, University of Zaragoza, CIBERER-GCV02 and ISS-Aragon, E-50009 Zaragoza, Spain.
  • Lucia-Campos C; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, University of Zaragoza, CIBERER-GCV02 and ISS-Aragon, E-50009 Zaragoza, Spain.
  • Antoñanzas-Pérez R; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, University of Zaragoza, CIBERER-GCV02 and ISS-Aragon, E-50009 Zaragoza, Spain.
  • Marcos-Alcalde I; Molecular Modelling Group, Centro de Biología Molecular Severo Ochoa, CBMSO (CSIC-UAM), E-28049 Madrid, Spain.
  • Parenti I; Bioscience Research Institute, School of Experimental Sciences, Universidad Francisco de Vitoria, UFV, E-28223 Pozuelo de Alarcón, Spain.
  • Bueno-Lozano G; Section for Functional Genetics, Institute of Human Genetics, University of Lübeck, 23562 Lübeck, Germany.
  • Musio A; Institute of Science and Technology (IST) Austria, 3400 Klosterneuburg, Austria.
  • Puisac B; Department of Paediatrics, Hospital Clínico Universitario "Lozano Blesa", E-50009 Zaragoza, Spain.
  • Kaiser FJ; Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche, I-56124 Pisa, Italy.
  • Ramos FJ; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, University of Zaragoza, CIBERER-GCV02 and ISS-Aragon, E-50009 Zaragoza, Spain.
  • Gómez-Puertas P; Section for Functional Genetics, Institute of Human Genetics, University of Lübeck, 23562 Lübeck, Germany.
  • Pié J; Institute for Human Genetics, University Hospital Essen, University of Duisburg-Essen, 45147 Essen, Germany.
Int J Mol Sci ; 21(3)2020 Feb 04.
Article en En | MEDLINE | ID: mdl-32033219
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Síndrome de Cornelia de Lange / Cara Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Int J Mol Sci Año: 2020 Tipo del documento: Article País de afiliación: España
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Síndrome de Cornelia de Lange / Cara Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Int J Mol Sci Año: 2020 Tipo del documento: Article País de afiliación: España