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6篇 您的检索式:作者名="LegiusE"
    题名 作者 年代 出处 被引量
1A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 ( SMAD4)显示文摘Carol J Gallione Gabriela M Repetto Eric Legius Anil K Rustgi Susan L Schelley Sabine Tejpar Grant Mitchell éric Drouin Cornelius JJ Westermann Douglas A Marchuk 2004The Lancet2004,,9412:1
2Rapid prenatal diagnosis of trisomy 21 in 5049 consecutive uncultured amniotic fluid samples by fluorescence in situ hybridization (FISH)显示文摘Witters I Devriendt K Legius E 0,,01:1
3Unusual molecular findings in autosomal recessive spinal muscular atrophy 显示文摘MatthijsG SchollenE LegiusE etal 1996J Med Genet1996,33,6:1
4Rapid prenatal diagnosis of tri-somy 21 in 5049 consecutive uncultured amniotic fluid samples byfluorescence in situ hybridization(FISH):2 year multi-center retrospective study and review of the literature显示文摘Witters I Devrierndt Legius 2002Prenatal Diagno-sis2002,1,22:1
5Genotype-phenotype correlations in families with deletions in the von Hippel-Lindau (VHL) gene显示文摘Frederik Hes Richard Zewald Ton Peeters Rolf Sijmons Thera Links Joke Verheij Gert Matthijs Eric Legius Geert Mortier Kors van der Torren Malou Rosman Cornelis Lips Peter Pearson Rob van der Luijt 2000Human Genetics2000,,4:1
6Elevated Risk for MPNST in NF1 Microdeletion Patients显示文摘T. De Raedt H. Brems P. Wolkenstein D. Vidaud S. Pilotti F. Perrone V. Mautner S. Frahm R. Sciot E. Legius 2003The American Journal of Human Genetics2003,,5:1
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