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De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome.
Ufartes, Roser; Berger, Hanna; Till, Katharina; Salinas, Gabriela; Sturm, Marc; Altmüller, Janine; Nürnberg, Peter; Thiele, Holger; Funke, Rudolf; Apeshiotis, Neophytos; Langen, Hendrik; Wollnik, Bernd; Borchers, Annette; Pauli, Silke.
Afiliación
  • Ufartes R; Institute of Human Genetics, University Medical Center Göttingen, Heinrich-Düker-Weg 12, 37073, Göttingen, Germany.
  • Berger H; Department of Biology, Molecular Embryology, Philipps-University Marburg, Marburg, Germany.
  • Till K; Department of Biology, Molecular Embryology, Philipps-University Marburg, Marburg, Germany.
  • Salinas G; NGS Integrative Genomics Core Unit, University Medical Center Göttingen, 37073, Göttingen, Germany.
  • Sturm M; Institute of Medical Genetics and Applied Genomics, Calwerstr. 7, 72076, Tübingen, Germany.
  • Altmüller J; Cologne Center for Genomics (CCG), University of Cologne, Weyertal 115b, 50931, Cologne, Germany.
  • Nürnberg P; Cologne Center for Genomics (CCG), University of Cologne, Weyertal 115b, 50931, Cologne, Germany.
  • Thiele H; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Robert-Koch Str. 21, 50931, Cologne, Germany.
  • Funke R; Cologne Center for Genomics (CCG), University of Cologne, Weyertal 115b, 50931, Cologne, Germany.
  • Apeshiotis N; Department of Neuropediatrics, Sozialpädiatrisches Zentrum, Mönchebergstr. 41-43, 34125, Kassel, Germany.
  • Langen H; Praxis für Humangenetik, Georg-Eckert-Straße 12, 38100, Brunswick, Germany.
  • Wollnik B; Department of Neuropediatrics, Sozialpädiatrisches Zentrum Hannover, Janusz-Korczak-Allee 8, 30173, Hannover, Germany.
  • Borchers A; Institute of Human Genetics, University Medical Center Göttingen, Heinrich-Düker-Weg 12, 37073, Göttingen, Germany.
  • Pauli S; Cluster of Excellence "Multiscale Bioimaging: From Molecular Machines To Networks of Excitable Cells" (MBExC), University of Göttingen, 37073, Göttingen, Germany.
Hum Genet ; 139(11): 1363-1379, 2020 Nov.
Article en En | MEDLINE | ID: mdl-32424618
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Linfocinas / Discapacidad Intelectual / Mutación Límite: Adolescent / Animals / Child / Humans / Male Idioma: En Revista: Hum Genet Año: 2020 Tipo del documento: Article País de afiliación: Alemania
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Linfocinas / Discapacidad Intelectual / Mutación Límite: Adolescent / Animals / Child / Humans / Male Idioma: En Revista: Hum Genet Año: 2020 Tipo del documento: Article País de afiliación: Alemania