Your browser doesn't support javascript.
loading
Recurrent, Activating Variants in the Receptor Tyrosine Kinase DDR2 Cause Warburg-Cinotti Syndrome.
Xu, Linda; Jensen, Hanne; Johnston, Jennifer J; Di Maria, Emilio; Kloth, Katja; Cristea, Ileana; Sapp, Julie C; Darling, Thomas N; Huryn, Laryssa A; Tranebjærg, Lisbeth; Cinotti, Elisa; Kubisch, Christian; Rødahl, Eyvind; Bruland, Ove; Biesecker, Leslie G; Houge, Gunnar; Bredrup, Cecilie.
Afiliação
  • Xu L; Department of Ophthalmology, Haukeland University Hospital, N-5021 Bergen, Norway; Department of Medical Genetics, Haukeland University Hospital, N-5021 Bergen, Norway; Department of Clinical Medicine, University of Bergen, N-5021 Bergen, Norway.
  • Jensen H; Eye Department Glostrup Hospital, Rigshospitalet, the Kennedy Centre, DK 2600 Glostrup, Denmark.
  • Johnston JJ; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, US.
  • Di Maria E; Department of Health Sciences, Division of Medical Genetics, University of Genova, Galliera Hospital, 16128 Genova, Italy.
  • Kloth K; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
  • Cristea I; Department of Ophthalmology, Haukeland University Hospital, N-5021 Bergen, Norway; Department of Medical Genetics, Haukeland University Hospital, N-5021 Bergen, Norway; Department of Clinical Medicine, University of Bergen, N-5021 Bergen, Norway.
  • Sapp JC; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, US.
  • Darling TN; Uniformed Services University of the Health Sciences, Bethesda, MD 20814, US.
  • Huryn LA; National Eye Institute, National Institutes of Health, Bethesda, MD 20892, US.
  • Tranebjærg L; Department of Clinical Genetics, The Kennedy Center, Copenhagen University Hospital, DK-2200 Copenhagen, Denmark; Institute of Clinical Medicine, University of Copenhagen, DK-2200 Copenhagen, Denmark.
  • Cinotti E; Department of Medical, Surgical and Neuro-Sciences, Dermatology Unit, University of Siena, 53100 Siena, Italy.
  • Kubisch C; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
  • Rødahl E; Department of Ophthalmology, Haukeland University Hospital, N-5021 Bergen, Norway; Department of Clinical Medicine, University of Bergen, N-5021 Bergen, Norway.
  • Bruland O; Department of Medical Genetics, Haukeland University Hospital, N-5021 Bergen, Norway.
  • Biesecker LG; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, US.
  • Houge G; Department of Medical Genetics, Haukeland University Hospital, N-5021 Bergen, Norway. Electronic address: gunnar.houge@helse-bergen.no.
  • Bredrup C; Department of Ophthalmology, Haukeland University Hospital, N-5021 Bergen, Norway; Department of Medical Genetics, Haukeland University Hospital, N-5021 Bergen, Norway; Department of Clinical Medicine, University of Bergen, N-5021 Bergen, Norway.
Am J Hum Genet ; 103(6): 976-983, 2018 12 06.
Article em En | MEDLINE | ID: mdl-30449416
Assuntos
Palavras-chave
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças do Tecido Conjuntivo / Receptor com Domínio Discoidina 2 Limite: Adult / Child / Child, preschool / Female / Humans / Middle aged Idioma: En Revista: Am J Hum Genet Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Noruega País de publicação: Estados Unidos
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças do Tecido Conjuntivo / Receptor com Domínio Discoidina 2 Limite: Adult / Child / Child, preschool / Female / Humans / Middle aged Idioma: En Revista: Am J Hum Genet Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Noruega País de publicação: Estados Unidos