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Missense variant contribution to USP9X-female syndrome.
Jolly, Lachlan A; Parnell, Euan; Gardner, Alison E; Corbett, Mark A; Pérez-Jurado, Luis A; Shaw, Marie; Lesca, Gaetan; Keegan, Catherine; Schneider, Michael C; Griffin, Emily; Maier, Felicitas; Kiss, Courtney; Guerin, Andrea; Crosby, Kathleen; Rosenbaum, Kenneth; Tanpaiboon, Pranoot; Whalen, Sandra; Keren, Boris; McCarrier, Julie; Basel, Donald; Sadedin, Simon; White, Susan M; Delatycki, Martin B; Kleefstra, Tjitske; Küry, Sébastien; Brusco, Alfredo; Sukarova-Angelovska, Elena; Trajkova, Slavica; Yoon, Sehoun; Wood, Stephen A; Piper, Michael; Penzes, Peter; Gecz, Jozef.
Afiliación
  • Jolly LA; University of Adelaide and Robinson Research Institute, Adelaide, SA, 5005, Australia. Lachlan.Jolly@adelaide.edu.au.
  • Parnell E; Department of Physiology, Northwestern University Feinberg School of Medicine, Chicago, Il, USA.
  • Gardner AE; University of Adelaide and Robinson Research Institute, Adelaide, SA, 5005, Australia.
  • Corbett MA; University of Adelaide and Robinson Research Institute, Adelaide, SA, 5005, Australia.
  • Pérez-Jurado LA; University of Adelaide and Robinson Research Institute, Adelaide, SA, 5005, Australia.
  • Shaw M; Women's and Children's Hospital, Adelaide, SA, 5006, Australia.
  • Lesca G; South Australian Health and Medical Research Institute, Adelaide, SA, 5000, Australia.
  • Keegan C; Hospital del Mar Research Institute (IMIM), Network Research Centre for Rare Diseases (CIBERER) and Universitat Pompeu Fabra, Barcelona, 08003, Spain.
  • Schneider MC; University of Adelaide and Robinson Research Institute, Adelaide, SA, 5005, Australia.
  • Griffin E; Institut Neuromyogène, métabolisme énergétique et développement durable, CNRS UMR 5310, INSERM U1217, Université de Lyon, Université Claude Bernard Lyon 1, Lyon, France.
  • Maier F; Service de Génétique, Hospices Civils de Lyon, Lyon, France.
  • Kiss C; Division of Genetics, Department of Pediatrics, University of Michigan, Ann Arbor, MI, USA.
  • Guerin A; Section of Neurology, Department of Pediatrics, St. Christopher's Hospital for Children, Drexel University College of Medicine, Philadelphia, PA, USA.
  • Crosby K; Division of Clinical Genetics, Department of Pediatrics, Columbia University Irving Medical Center, New York, NY, USA.
  • Rosenbaum K; Dr. von Hauner Children's Hospital, LMU - Ludwig-Maximilians-Universität Munich, University of Munich Medical Center, Munich, Germany.
  • Tanpaiboon P; Kingston Health Sciences Centre, Kingston, ON, K7L 2V7, Canada.
  • Whalen S; Division of Medical Genetics, Department of Pediatrics, Kingston General Hospital, Kingston, ON, Canada.
  • Keren B; Division of Genetics and Metabolism, Children's National Hospital, Washington, DC, USA.
  • McCarrier J; Division of Genetics and Metabolism, Children's National Hospital, Washington, DC, USA.
  • Basel D; Division of Genetics and Metabolism, Children's National Hospital, Washington, DC, USA.
  • Sadedin S; Unité Fonctionnelle de génétique clinique, Hôpital Armand Trousseau, Assistance publique-Hôpitaux de Paris, Centre de Référence Maladies Rares des anomalies du développement et syndromes malformatifs, Paris, France.
  • White SM; Hôpital de la Pitié-Salpêtrière, Département de Génétique, Paris, France.
  • Delatycki MB; Division of Genetics, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI, USA.
  • Kleefstra T; Division of Genetics, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI, USA.
  • Küry S; Victorian Clinical Genetics Service, Melbourne, VIC, Australia.
  • Brusco A; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.
  • Sukarova-Angelovska E; Murdoch Children's Research Institute, Melbourne, VIC, Australia.
  • Trajkova S; Victorian Clinical Genetics Service, Melbourne, VIC, Australia.
  • Yoon S; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.
  • Wood SA; Murdoch Children's Research Institute, Melbourne, VIC, Australia.
  • Piper M; Victorian Clinical Genetics Service, Melbourne, VIC, Australia.
  • Penzes P; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.
  • Gecz J; Murdoch Children's Research Institute, Melbourne, VIC, Australia.
NPJ Genom Med ; 5(1): 53, 2020 Dec 09.
Article en En | MEDLINE | ID: mdl-33298948
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Tipo de estudio: Guideline / Prognostic_studies Idioma: En Revista: NPJ Genom Med Año: 2020 Tipo del documento: Article País de afiliación: Australia
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Tipo de estudio: Guideline / Prognostic_studies Idioma: En Revista: NPJ Genom Med Año: 2020 Tipo del documento: Article País de afiliación: Australia