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TÍTULO: Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations  Full Text
AUTORES: Gabriela E Jones; Pia Ostergaard; Anthony T Moore; Fiona C Connell; Denise Williams; Oliver Quarrell; Angela F Brady; Isabel Spier; Filiz Hazan; Oana Moldovan; Dagmar Wieczorek; Barbara Mikat; Florence Petit; Christine Coubes; Robert A Saul; Glen Brice; Kristiana Gordon; Steve Jeffery; Peter S Mortimer; Pradeep C Vasudevan; Sahar Mansour; ...Mais
PUBLICAÇÃO: 2014, FONTE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 22, NÚMERO: 7
INDEXADO EM: Scopus WOS CrossRef
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TÍTULO: Discrepancies in reporting the CAG repeat lengths for Huntington's disease  Full Text
AUTORES: Oliver W Quarrell; Olivia Handley; Kirsty O'Donovan; Christine Dumoulin; Maria Ramos Arroyo; Ida Biunno; Peter Bauer; Margaret Kline; Bernhard B Landwehrmeyer;
PUBLICAÇÃO: 2012, FONTE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 20, NÚMERO: 1
INDEXADO EM: WOS CrossRef