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Expansion of the CCDC22 associated Ritscher-Schinzel/3C syndrome and review of the literature: Should the minimal diagnostic criteria be revised?
Gjerulfsen, Cathrine E; Møller, Rikke S; Fenger, Christina D; Hammer, Trine B; Bayat, Allan.
Afiliación
  • Gjerulfsen CE; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark.
  • Møller RS; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark; Department of Regional Health Research, Faculty of Health Sciences, University of Southern, Denmark.
  • Fenger CD; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark; Amplexa Genetics A/S, Odense, Denmark.
  • Hammer TB; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark; Department of Clinical Genetics, University Hospital of Copenhagen Rigshospitalet, Copenhagen, Denmark.
  • Bayat A; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark; Department of Regional Health Research, Faculty of Health Sciences, University of Southern, Denmark. Electronic address: abaya@filadelfia.dk.
Eur J Med Genet ; 64(7): 104246, 2021 Jul.
Article en En | MEDLINE | ID: mdl-34020006
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Fenotipo / Anomalías Múltiples / Proteínas / Anomalías Craneofaciales / Síndrome de Dandy-Walker / Defectos del Tabique Interatrial Tipo de estudio: Diagnostic_studies / Risk_factors_studies Límite: Adolescent / Humans / Male Idioma: En Revista: Eur J Med Genet Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Dinamarca
Texto completo
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Fenotipo / Anomalías Múltiples / Proteínas / Anomalías Craneofaciales / Síndrome de Dandy-Walker / Defectos del Tabique Interatrial Tipo de estudio: Diagnostic_studies / Risk_factors_studies Límite: Adolescent / Humans / Male Idioma: En Revista: Eur J Med Genet Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Dinamarca