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Expanding the pre- and postnatal phenotype of WASHC5 and CCDC22 -related Ritscher-Schinzel syndromes.
Neri, Sabrina; Maia, Nuno; Fortuna, Ana M; Damasio, Joana; Coale, Elizabeth; Willis, Mary; Jorge, Paula; Højte, Anne F; Fenger, Christina D; Møller, Rikke S; Bayat, Allan.
Afiliación
  • Neri S; Danish Epilepsy Centre, Department of Epilepsy Genetics and Personalized Medicine, DK-4293, Dianalund, Denmark; Department of Medical and Surgical Sciences, "Magna Graecia" University, Catanzaro, Italy.
  • Maia N; Unidade de Genética Molecular, Centro de Genética Médica Jacinto de Magalhães (CGM), Centro Hospitalar Universitário do Porto (CHUPorto), Porto, Portugal; UMIB - Unit for Multidisciplinary Research in Biomedicine, ICBAS - School of Medicine and Biomedical Sciences, University of Porto, Porto, Portug
  • Fortuna AM; UMIB - Unit for Multidisciplinary Research in Biomedicine, ICBAS - School of Medicine and Biomedical Sciences, University of Porto, Porto, Portugal, and ITR - Laboratory for Integrative and Translational Research in Population Health, Porto, Portugal; Unidade de Genética Médica, Centro de Genética M
  • Damasio J; UMIB - Unit for Multidisciplinary Research in Biomedicine, ICBAS - School of Medicine and Biomedical Sciences, University of Porto, Porto, Portugal, and ITR - Laboratory for Integrative and Translational Research in Population Health, Porto, Portugal; Serviço de Neurologia, Centro Hospitalar Univers
  • Coale E; Department of Maternal-Fetal Medicine, University of Washington Medical Center, Seattle, WA, USA.
  • Willis M; Department of Pediatrics, Naval Medical Center San Diego, San Diego, CA, USA.
  • Jorge P; Unidade de Genética Molecular, Centro de Genética Médica Jacinto de Magalhães (CGM), Centro Hospitalar Universitário do Porto (CHUPorto), Porto, Portugal; UMIB - Unit for Multidisciplinary Research in Biomedicine, ICBAS - School of Medicine and Biomedical Sciences, University of Porto, Porto, Portug
  • Højte AF; Danish Epilepsy Centre, Department of Epilepsy Genetics and Personalized Medicine, DK-4293, Dianalund, Denmark.
  • Fenger CD; Danish Epilepsy Centre, Department of Epilepsy Genetics and Personalized Medicine, DK-4293, Dianalund, Denmark; Amplexa Genetics A/S, Odense, Denmark.
  • Møller RS; Danish Epilepsy Centre, Department of Epilepsy Genetics and Personalized Medicine, DK-4293, Dianalund, Denmark; Department of Regional Health Research, University of Southern Denmark, DK-5230 Odense, Denmark.
  • Bayat A; Danish Epilepsy Centre, Department of Epilepsy Genetics and Personalized Medicine, DK-4293, Dianalund, Denmark; Department of Regional Health Research, University of Southern Denmark, DK-5230 Odense, Denmark. Electronic address: abaya@filadelfia.dk.
Eur J Med Genet ; 65(11): 104624, 2022 Nov.
Article en En | MEDLINE | ID: mdl-36130690
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Anomalías Craneofaciales / Síndrome de Dandy-Walker Tipo de estudio: Prognostic_studies Límite: Female / Humans / Pregnancy Idioma: En Revista: Eur J Med Genet Asunto de la revista: GENETICA MEDICA Año: 2022 Tipo del documento: Article País de afiliación: Italia
Texto completo
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Anomalías Craneofaciales / Síndrome de Dandy-Walker Tipo de estudio: Prognostic_studies Límite: Female / Humans / Pregnancy Idioma: En Revista: Eur J Med Genet Asunto de la revista: GENETICA MEDICA Año: 2022 Tipo del documento: Article País de afiliación: Italia