Your browser doesn't support javascript.
loading
De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway.
Asif, Maria; Kaygusuz, Emrah; Shinawi, Marwan; Nickelsen, Anna; Hsieh, Tzung-Chien; Wagle, Prerana; Budde, Birgit S; Hochscherf, Jennifer; Abdullah, Uzma; Höning, Stefan; Nienberg, Christian; Lindenblatt, Dirk; Noegel, Angelika A; Altmüller, Janine; Thiele, Holger; Motameny, Susanne; Fleischer, Nicole; Segal, Idan; Pais, Lynn; Tinschert, Sigrid; Samra, Nadra Nasser; Savatt, Juliann M; Rudy, Natasha L; De Luca, Chiara; White, Susan M; Krawitz, Peter; Hurst, Anna C E; Niefind, Karsten; Jose, Joachim; Brancati, Francesco; Nürnberg, Peter; Hussain, Muhammad Sajid.
Afiliación
  • Asif M; Cologne Center for Genomics (CCG), University of Cologne, Faculty of Medicine and University Hospital Cologne, 50931 Cologne, Germany.
  • Kaygusuz E; Center for Biochemistry, Medical Faculty, University of Cologne, 50931 Cologne, Germany.
  • Shinawi M; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Faculty of Medicine and University Hospital Cologne, 50931 Cologne, Germany.
  • Nickelsen A; Center for Biochemistry, Medical Faculty, University of Cologne, 50931 Cologne, Germany.
  • Hsieh TC; Bilecik Seyh Edebali University, Molecular Biology and Genetics, Gülümbe Campus, 11230 Bilecik, Turkey.
  • Wagle P; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA.
  • Budde BS; Institute of Pharmaceutical and Medicinal Chemistry, Westphalian Wilhelms-University, Münster, Germany.
  • Hochscherf J; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich Wilhelms, Universität Bonn, Bonn, Germany.
  • Abdullah U; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany.
  • Höning S; Cologne Center for Genomics (CCG), University of Cologne, Faculty of Medicine and University Hospital Cologne, 50931 Cologne, Germany.
  • Nienberg C; Department of Chemistry, Institute of Biochemistry, University of Cologne, Cologne, Germany.
  • Lindenblatt D; University Institute of Biochemistry and Biotechnology (UIBB), PMAS-Arid Agriculture University, Rawalpindi, Pakistan.
  • Noegel AA; Center for Biochemistry, Medical Faculty, University of Cologne, 50931 Cologne, Germany.
  • Altmüller J; Institute of Pharmaceutical and Medicinal Chemistry, Westphalian Wilhelms-University, Münster, Germany.
  • Thiele H; Department of Chemistry, Institute of Biochemistry, University of Cologne, Cologne, Germany.
  • Motameny S; Center for Biochemistry, Medical Faculty, University of Cologne, 50931 Cologne, Germany.
  • Fleischer N; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Faculty of Medicine and University Hospital Cologne, 50931 Cologne, Germany.
  • Segal I; Cologne Center for Genomics (CCG), University of Cologne, Faculty of Medicine and University Hospital Cologne, 50931 Cologne, Germany.
  • Pais L; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Core Facility Genomics, Charitéplatz 1, 10117 Berlin, Germany.
  • Tinschert S; Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin, Germany.
  • Samra NN; Cologne Center for Genomics (CCG), University of Cologne, Faculty of Medicine and University Hospital Cologne, 50931 Cologne, Germany.
  • Savatt JM; Cologne Center for Genomics (CCG), University of Cologne, Faculty of Medicine and University Hospital Cologne, 50931 Cologne, Germany.
  • Rudy NL; FDNA Inc., Boston, MA, USA.
  • De Luca C; Hospital Center, Safed, Israel.
  • Paola Fortugno; Zentrum Medizinische Genetik, Medizinische Universität, Innsbruck, Austria.
  • White SM; Hospital Center, Safed, Israel.
  • Krawitz P; Azrieli Faculty of Medicine, Bar-Ilan University, Safed, Israel.
  • Hurst ACE; Genomic Medicine Institute, Geisinger, Danville, PA, USA.
  • Niefind K; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA.
  • Jose J; Department of Life, Health and Environmental Science, University of L'Aquila, 67100 L'Aquila, Italy.
  • Nürnberg P; Department of Life, Health and Environmental Science, University of L'Aquila, 67100 L'Aquila, Italy.
  • Hussain MS; IRCCS, San Raffaele Roma, 00163 Roma, Italy.
HGG Adv ; 3(3): 100111, 2022 Jul 14.
Article en En | MEDLINE | ID: mdl-35571680
Palabras clave
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Prognostic_studies Idioma: En Revista: HGG Adv Año: 2022 Tipo del documento: Article País de afiliación: Alemania
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Prognostic_studies Idioma: En Revista: HGG Adv Año: 2022 Tipo del documento: Article País de afiliación: Alemania