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Integrated in silico and experimental assessment of disease relevance of PCDH19 missense variants.
Pham, Duyen H; Pitman, Melissa R; Kumar, Raman; Jolly, Lachlan A; Schulz, Renee; Gardner, Alison E; de Nys, Rebekah; Heron, Sarah E; Corbett, Mark A; Kothur, Kavitha; Gill, Deepak; Rajagopalan, Sulekha; Kolc, Kristy L; Halliday, Benjamin J; Robertson, Stephen P; Regan, Brigid M; Kirsch, Heidi E; Berkovic, Samuel F; Scheffer, Ingrid E; Pitson, Stuart M; Petrovski, Slave; Gecz, Jozef.
Afiliação
  • Pham DH; Neurogenetics, Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia.
  • Pitman MR; Paediatrics and Reproductive Health, Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia.
  • Kumar R; Molecular Therapeutics, Centre for Cancer Biology, University of South Australia and SA Pathology, Adelaide, South Australia, Australia.
  • Jolly LA; Neurogenetics, Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia.
  • Schulz R; Paediatrics and Reproductive Health, Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia.
  • Gardner AE; Neurogenetics, Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia.
  • de Nys R; Paediatrics and Reproductive Health, Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia.
  • Heron SE; Neurogenetics, Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia.
  • Corbett MA; Neurogenetics, Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia.
  • Kothur K; Paediatrics and Reproductive Health, Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia.
  • Gill D; Neurogenetics, Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia.
  • Rajagopalan S; Paediatrics and Reproductive Health, Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia.
  • Kolc KL; Neurogenetics, Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia.
  • Halliday BJ; Paediatrics and Reproductive Health, Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia.
  • Robertson SP; Neurogenetics, Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia.
  • Regan BM; Paediatrics and Reproductive Health, Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia.
  • Kirsch HE; Department of Paediatrics and Child Health, Kids Neuroscience Centre, The University of Sydney, Sydney, New South Wales, Australia.
  • Berkovic SF; TY Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.
  • Scheffer IE; Department of Paediatrics and Child Health, Kids Neuroscience Centre, The University of Sydney, Sydney, New South Wales, Australia.
  • Pitson SM; TY Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.
  • Petrovski S; Department of Clinical Genetics, Liverpool Hospital, Liverpool, New South Wales, Australia.
  • Gecz J; Neurogenetics, Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia.
Hum Mutat ; 42(8): 1030-1041, 2021 08.
Article em En | MEDLINE | ID: mdl-34082468
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Caderinas / Epilepsia Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Caderinas / Epilepsia Idioma: En Ano de publicação: 2021 Tipo de documento: Article