Your browser doesn't support javascript.
loading
Pontocerebellar hypoplasia with rhombencephalosynapsis and microlissencephaly expands the spectrum of PCH type 1B.
Saugier-Veber, Pascale; Marguet, Florent; Vezain, Myriam; Bucourt, Martine; Letard, Pascaline; Delahaye, Andrée; Pipiras, Eva; Frébourg, Thierry; Gonzalez, Bruno; Laquerrière, Annie.
  • Saugier-Veber P; Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics, F 76000, Normandy Center for Genomic and Personalized Medicine, Rouen, France.
  • Marguet F; Normandie Univ, UNIROUEN, INSERM U1245 and Rouen University Hospital, Department of Pathology, F76000, Normandy Center for Genomic and Personalized Medicine, Rouen, France.
  • Vezain M; Normandie Univ, UNIROUEN, Inserm U1245, F 76000, Normandy Center for Genomic and Personalized Medicine, Rouen, France.
  • Bucourt M; Paris University Hospital, Jean Verdier Hospital, Department of Pathology, F93141, Bondy, France.
  • Letard P; Paris University Hospital, Jean Verdier Hospital, Department of Genetics, F93141, Bondy, France.
  • Delahaye A; Paris University Hospital, Jean Verdier Hospital, Department of Genetics, F93141, Bondy, France.
  • Pipiras E; Paris University Hospital, Jean Verdier Hospital, Department of Genetics, F93141, Bondy, France.
  • Frébourg T; Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics, F 76000, Normandy Center for Genomic and Personalized Medicine, Rouen, France.
  • Gonzalez B; Normandie Univ, UNIROUEN, Inserm U1245, F 76000, Normandy Center for Genomic and Personalized Medicine, Rouen, France.
  • Laquerrière A; Normandie Univ, UNIROUEN, INSERM U1245 and Rouen University Hospital, Department of Pathology, F76000, Normandy Center for Genomic and Personalized Medicine, Rouen, France. Electronic address: annie.laquerriere@chu-rouen.fr.
Eur J Med Genet ; 63(4): 103814, 2020 Apr.
Article en En | MEDLINE | ID: mdl-31770597
Asunto(s)
Palabras clave
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Enfermedades Cerebelosas / Proteínas de Unión al ARN / Complejo Multienzimático de Ribonucleasas del Exosoma / Microcefalia Tipo de estudio: Prognostic_studies Límite: Adult / Female / Humans / Male Idioma: En Año: 2020 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Enfermedades Cerebelosas / Proteínas de Unión al ARN / Complejo Multienzimático de Ribonucleasas del Exosoma / Microcefalia Tipo de estudio: Prognostic_studies Límite: Adult / Female / Humans / Male Idioma: En Año: 2020 Tipo del documento: Article