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The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued.
Schröder, Simone; Yigit, Gökhan; Li, Yun; Altmüller, Janine; Büttel, Hans-Martin; Fiedler, Barbara; Kretzschmar, Christoph; Nürnberg, Peter; Seeger, Jürgen; Serpieri, Valentina; Valente, Enza Maria; Wollnik, Bernd; Boltshauser, Eugen; Brockmann, Knut.
Afiliación
  • Schröder S; Interdisciplinary Pediatric Center for Children with Developmental Disabilities and Severe Chronic Disorders, Department of Pediatrics and Adolescent Medicine, University Medical Center, Göttingen, Germany.
  • Yigit G; Institute of Human Genetics, University Medical Center, Göttingen, Germany.
  • Li Y; Institute of Human Genetics, University Medical Center, Göttingen, Germany.
  • Altmüller J; Cologne Center for Genomics (CCG) and Center for Molecular Medicine Cologne (CMMC), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
  • Büttel HM; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Core Facility Genomics, Berlin, Germany.
  • Fiedler B; Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin, Germany.
  • Kretzschmar C; MVZ Genetikum GmbH, Stuttgart, Germany.
  • Nürnberg P; Division of Neuropediatrics, Department of General Pediatrics, University Hospital Münster, Münster, Germany.
  • Seeger J; Sozialpädiatrisches Zentrum, Städtisches Klinikum Dresden, Dresden, Germany.
  • Serpieri V; Cologne Center for Genomics (CCG) and Center for Molecular Medicine Cologne (CMMC), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
  • Valente EM; Center of Developmental Neurology (SPZ Frankfurt Mitte), Frankfurt, Germany.
  • Wollnik B; Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy.
  • Boltshauser E; Department of Molecular Medicine, University of Pavia, Pavia, Italy.
  • Brockmann K; Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy.
Orphanet J Rare Dis ; 18(1): 101, 2023 05 02.
Article en En | MEDLINE | ID: mdl-37131188
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedades Cerebelosas / Anomalías del Ojo / Enfermedades Renales Quísticas Tipo de estudio: Diagnostic_studies / Observational_studies / Prognostic_studies Límite: Humans Idioma: En Revista: Orphanet J Rare Dis Asunto de la revista: MEDICINA Año: 2023 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedades Cerebelosas / Anomalías del Ojo / Enfermedades Renales Quísticas Tipo de estudio: Diagnostic_studies / Observational_studies / Prognostic_studies Límite: Humans Idioma: En Revista: Orphanet J Rare Dis Asunto de la revista: MEDICINA Año: 2023 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Reino Unido