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The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome.
Fennell, Andrew Paul; Baxter, Anne Elizabeth; Berkovic, Samuel Frank; Ellaway, Carolyn Jane; Forwood, Caitlin; Hildebrand, Michael Stephen; Kumble, Smitha; McKeown, Colina; Mowat, David; Poke, Gemma; Rajagopalan, Sulekha; Regan, Brigid M; Scheffer, Ingrid Eileen; Stark, Zornitza; Stutterd, Chloe Alice; Tan, Tiong Yang; Wilkins, Ella Jane; Yeung, Alison; Hunter, Matthew Frank.
Affiliation
  • Fennell AP; Monash Genetics, Monash Health, Melbourne, Australia.
  • Baxter AE; Clinical Genetics Service, Austin Health, Melbourne, Australia.
  • Berkovic SF; Department of Paediatrics, Monash University, Melbourne, Australia.
  • Ellaway CJ; Hunter Genetics, Hunter New England Health Service, Newcastle, Australia.
  • Forwood C; Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Heidelberg, Australia.
  • Hildebrand MS; Paediatrics North, Sydney, Australia.
  • Kumble S; Genetic Metabolic Disorders Service, The Sydney Children's Hospital Network, Sydney, Australia.
  • McKeown C; Faculty of Medicine and Health, The University of Sydney, Sydney, Australia.
  • Mowat D; Centre for Clinical Genetics, Sydney Children's Hospital Randwick, Sydney, Australia.
  • Poke G; Centre for Clinical Genetics, Sydney Children's Hospital Randwick, Sydney, Australia.
  • Rajagopalan S; Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Heidelberg, Australia.
  • Regan BM; Murdoch Children's Research Institute, Melbourne, Australia.
  • Scheffer IE; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.
  • Stark Z; Genetic Health Service New Zealand, Wellington Hospital, Wellington, New Zealand.
  • Stutterd CA; Centre for Clinical Genetics, Sydney Children's Hospital Randwick, Sydney, Australia.
  • Tan TY; Genetic Health Service New Zealand, Wellington Hospital, Wellington, New Zealand.
  • Wilkins EJ; Department of Clinical Genetics, Liverpool Hospital, Sydney, Australia.
  • Yeung A; Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Heidelberg, Australia.
  • Hunter MF; Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Heidelberg, Australia.
Am J Med Genet A ; 188(12): 3432-3447, 2022 12.
Article in En | MEDLINE | ID: mdl-36367278
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Repressor Proteins / Abnormalities, Multiple / RNA Splicing Factors / Intellectual Disability / Microcephaly Type of study: Diagnostic_studies / Prognostic_studies Limits: Humans Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2022 Document type: Article Affiliation country: Australia
Fulltext
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Print
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Repressor Proteins / Abnormalities, Multiple / RNA Splicing Factors / Intellectual Disability / Microcephaly Type of study: Diagnostic_studies / Prognostic_studies Limits: Humans Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2022 Document type: Article Affiliation country: Australia