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Identical by descent L1CAM mutation in two apparently unrelated families with intellectual disability without L1 syndrome.
Shaw, Marie; Yap, Tzu Ying; Henden, Lyndal; Bahlo, Melanie; Gardner, Alison; Kalscheuer, Vera M; Haan, Eric; Christie, Louise; Hackett, Anna; Gecz, Jozef.
Afiliación
  • Shaw M; Robinson Research Institute, The University of Adelaide, Adelaide, SA 5000, Australia; School of Paediatrics and Reproductive Health, The University of Adelaide, Adelaide, SA 5000, Australia.
  • Yap TY; Discipline of Genetics, School of Molecular and Biomedical Science, The University of Adelaide, Adelaide, SA 5000, Australia.
  • Henden L; Bioinformatics Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC 3052, Australia; Department of Medical Biology, University of Melbourne, Melbourne, Australia.
  • Bahlo M; Bioinformatics Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC 3052, Australia; Department of Medical Biology, University of Melbourne, Melbourne, Australia; Department of Mathematics and Statistics, University of Melbourne, Melbourne, Australia.
  • Gardner A; Robinson Research Institute, The University of Adelaide, Adelaide, SA 5000, Australia; School of Paediatrics and Reproductive Health, The University of Adelaide, Adelaide, SA 5000, Australia.
  • Kalscheuer VM; Max Planck Institute for Molecular Genetics, Department Human Molecular Genetics, Ihnestrasse 73, Berlin, D-14195, Germany.
  • Haan E; School of Paediatrics and Reproductive Health, The University of Adelaide, Adelaide, SA 5000, Australia; SA Pathology, Women's and Children's Hospital, Adelaide, SA 5006, Australia.
  • Christie L; GOLD NSW, Hunter Genetics, Newcastle, Australia.
  • Hackett A; GOLD NSW, Hunter Genetics, Newcastle, Australia.
  • Gecz J; Robinson Research Institute, The University of Adelaide, Adelaide, SA 5000, Australia; School of Paediatrics and Reproductive Health, The University of Adelaide, Adelaide, SA 5000, Australia. Electronic address: jozef.gecz@adelaide.edu.au.
Eur J Med Genet ; 58(6-7): 364-8, 2015.
Article en En | MEDLINE | ID: mdl-25934484
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Paraplejía Espástica Hereditaria / Mutación Missense / Enfermedades Genéticas Ligadas al Cromosoma X / Molécula L1 de Adhesión de Célula Nerviosa / Discapacidad Intelectual Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Female / Humans / Male Idioma: En Revista: Eur J Med Genet Asunto de la revista: GENETICA MEDICA Año: 2015 Tipo del documento: Article País de afiliación: Australia Pais de publicación: Países Bajos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Paraplejía Espástica Hereditaria / Mutación Missense / Enfermedades Genéticas Ligadas al Cromosoma X / Molécula L1 de Adhesión de Célula Nerviosa / Discapacidad Intelectual Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Female / Humans / Male Idioma: En Revista: Eur J Med Genet Asunto de la revista: GENETICA MEDICA Año: 2015 Tipo del documento: Article País de afiliación: Australia Pais de publicación: Países Bajos