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Wyszukujesz frazę ""Leventer, Richard J."" wg kryterium: Autor

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    Tytuł:
    Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome.
    Autorzy:
    Wilson GR; 1] Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, The Royal Children's Hospital, Flemington Road, Melbourne, VIC, Australia [2] Department of Paediatrics, The University of Melbourne, Melbourne, VIC, Australia.
    Sunley J; Bioinformatics Division, The Walter and Eliza Hall Institute, Melbourne, VIC, Australia.
    Smith KR; 1] Bioinformatics Division, The Walter and Eliza Hall Institute, Melbourne, VIC, Australia [2] Department of Medical Biology, The University of Melbourne, Melbourne, VIC, Australia.
    Pope K; Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, The Royal Children's Hospital, Flemington Road, Melbourne, VIC, Australia.
    Bromhead CJ; Bioinformatics Division, The Walter and Eliza Hall Institute, Melbourne, VIC, Australia.
    Fitzpatrick E; Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, The Royal Children's Hospital, Flemington Road, Melbourne, VIC, Australia.
    Di Rocco M; Unit of Rare Diseases, Department of Pediatrics, Istituto Giannina Gaslini, Genoa, Italy.
    van Steensel M; Department of Dermatology, Maastricht University Medical Center, Maastricht, The Netherlands.
    Coman DJ; Department of Metabolic Medicine, The Royal Children's Hospital, Brisbane, QLD, Australia.
    Leventer RJ; 1] Department of Paediatrics, The University of Melbourne, Melbourne, VIC, Australia [2] Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, VIC, Australia [3] Department of Neurology, Royal Children's Hospital, Melbourne, VIC, Australia.
    Delatycki MB; 1] Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, The Royal Children's Hospital, Flemington Road, Melbourne, VIC, Australia [2] Department of Paediatrics, The University of Melbourne, Melbourne, VIC, Australia [3] Department of Clinical Genetics, Austin Health, Heidelberg, VIC, Australia.
    Amor DJ; 1] Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, The Royal Children's Hospital, Flemington Road, Melbourne, VIC, Australia [2] Department of Paediatrics, The University of Melbourne, Melbourne, VIC, Australia.
    Bahlo M; 1] Bioinformatics Division, The Walter and Eliza Hall Institute, Melbourne, VIC, Australia [2] Department of Mathematics and Statistics, The University of Melbourne, Melbourne, VIC, Australia.
    Lockhart PJ; 1] Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, The Royal Children's Hospital, Flemington Road, Melbourne, VIC, Australia [2] Department of Paediatrics, The University of Melbourne, Melbourne, VIC, Australia.
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    Źródło:
    European journal of human genetics : EJHG [Eur J Hum Genet] 2014 Jun; Vol. 22 (6), pp. 741-7. Date of Electronic Publication: 2013 Oct 09.
    Typ publikacji:
    Case Reports; Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Mutation*
    Abnormalities, Multiple/*genetics
    Adaptor Proteins, Signal Transducing/*genetics
    Abnormalities, Multiple/pathology ; Consanguinity ; Craniofacial Abnormalities/pathology ; Female ; Humans ; Limb Deformities, Congenital/pathology ; Male ; Mitral Valve Prolapse/pathology ; Pedigree ; Skin Abnormalities/pathology ; Syndrome
    Czasopismo naukowe
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