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A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome.
Oud, Machteld M; Bonnard, Carine; Mans, Dorus A; Altunoglu, Umut; Tohari, Sumanty; Ng, Alvin Yu Jin; Eskin, Ascia; Lee, Hane; Rupar, C Anthony; de Wagenaar, Nathalie P; Wu, Ka Man; Lahiry, Piya; Pazour, Gregory J; Nelson, Stanley F; Hegele, Robert A; Roepman, Ronald; Kayserili, Hülya; Venkatesh, Byrappa; Siu, Victoria M; Reversade, Bruno; Arts, Heleen H.
Afiliação
  • Oud MM; Department of Human Genetics (855), Radboud Institute for Molecular Life Sciences, Radboud University Medical Centre, PO-Box 9101, 6500 HB Nijmegen, The Netherlands.
  • Bonnard C; Laboratory of Human Embryology & Genetics, Institute of Medical Biology, ASTAR, Singapore, Singapore.
  • Mans DA; Department of Human Genetics (855), Radboud Institute for Molecular Life Sciences, Radboud University Medical Centre, PO-Box 9101, 6500 HB Nijmegen, The Netherlands.
  • Altunoglu U; Medical Genetics Department, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.
  • Tohari S; Institute of Molecular and Cell Biology, ASTAR, Singapore, Singapore.
  • Ng AYJ; Institute of Molecular and Cell Biology, ASTAR, Singapore, Singapore.
  • Eskin A; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, USA.
  • Lee H; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, USA.
  • Rupar CA; Department of Biochemistry, University of Western Ontario, Room 4212A, 1151 Richmond Street N, N6A 5B7 London, ON Canada.
  • de Wagenaar NP; Medical Genetics Program, London Health Sciences Centre, London, ON Canada.
  • Wu KM; Children's Health Research Institute, London, ON Canada.
  • Lahiry P; Department of Human Genetics (855), Radboud Institute for Molecular Life Sciences, Radboud University Medical Centre, PO-Box 9101, 6500 HB Nijmegen, The Netherlands.
  • Pazour GJ; Department of Human Genetics (855), Radboud Institute for Molecular Life Sciences, Radboud University Medical Centre, PO-Box 9101, 6500 HB Nijmegen, The Netherlands.
  • Nelson SF; Department of Paediatrics, The Hospital for Sick Children, Toronto, ON Canada.
  • Hegele RA; Program in Molecular Medicine, University of Massachusetts Medical School, Worcester, MA USA.
  • Roepman R; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, USA.
  • Kayserili H; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, USA.
  • Venkatesh B; Department of Biochemistry, University of Western Ontario, Room 4212A, 1151 Richmond Street N, N6A 5B7 London, ON Canada.
  • Siu VM; Robarts Research Institute, London, ON Canada.
  • Reversade B; Department of Human Genetics (855), Radboud Institute for Molecular Life Sciences, Radboud University Medical Centre, PO-Box 9101, 6500 HB Nijmegen, The Netherlands.
  • Arts HH; Medical Genetics Department, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.
Cilia ; 5: 8, 2016.
Article em En | MEDLINE | ID: mdl-27069622
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Etiology_studies / Prognostic_studies Idioma: En Revista: Cilia Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Holanda
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Etiology_studies / Prognostic_studies Idioma: En Revista: Cilia Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Holanda