Your browser doesn't support javascript.
loading
Mouse genetics reveals Barttin as a genetic modifier of Joubert syndrome.
Ramsbottom, Simon A; Thelwall, Peter E; Wood, Katrina M; Clowry, Gavin J; Devlin, Laura A; Silbermann, Flora; Spiewak, Helena L; Shril, Shirlee; Molinari, Elisa; Hildebrandt, Friedhelm; Gunay-Aygun, Meral; Saunier, Sophie; Cordell, Heather J; Sayer, John A; Miles, Colin G.
Afiliação
  • Ramsbottom SA; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle upon Tyne NE1 3BZ, United Kingdom.
  • Thelwall PE; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle upon Tyne NE1 3BZ, United Kingdom.
  • Wood KM; Newcastle Magnetic Resonance Centre, Newcastle University, Newcastle upon Tyne NE4 5PL, United Kingdom.
  • Clowry GJ; The Histopathology Department, The Newcastle upon Tyne Hospitals National Health Service (NHS) Foundation Trust, Newcastle upon Tyne NE7 7DN, United Kingdom.
  • Devlin LA; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, United Kingdom.
  • Silbermann F; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle upon Tyne NE1 3BZ, United Kingdom.
  • Spiewak HL; Laboratory of Hereditary Kidney Disease, Imagine Institute, INSERM U1163, Université de Paris, 75015 Paris, France.
  • Shril S; Northern Genetics Service, International Centre for Life, The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 3BZ, United Kingdom.
  • Molinari E; Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115.
  • Hildebrandt F; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle upon Tyne NE1 3BZ, United Kingdom.
  • Gunay-Aygun M; Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115.
  • Saunier S; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892.
  • Cordell HJ; Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21287.
  • Sayer JA; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287.
  • Miles CG; Laboratory of Hereditary Kidney Disease, Imagine Institute, INSERM U1163, Université de Paris, 75015 Paris, France.
Proc Natl Acad Sci U S A ; 117(2): 1113-1118, 2020 01 14.
Article em En | MEDLINE | ID: mdl-31879347
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: Retina / Anormalidades Múltiplas / Cerebelo / Anormalidades do Olho / Canais de Cloreto / Doenças Renais Císticas / Genes Modificadores Limite: Animals Idioma: En Revista: Proc Natl Acad Sci U S A Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Reino Unido 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: Retina / Anormalidades Múltiplas / Cerebelo / Anormalidades do Olho / Canais de Cloreto / Doenças Renais Císticas / Genes Modificadores Limite: Animals Idioma: En Revista: Proc Natl Acad Sci U S A Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Reino Unido País de publicação: Estados Unidos