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15篇 您的检索式:作者名="Bitoun P"
    题名 作者 年代 出处 被引量
1Genomic rearrange- ments in OPAl are frequent in patients with autosomal domi- nant optic atrophy 显示文摘Fuhrmann N Alavi MV Bitoun P 2009Med Genet2009,46,8:1
2Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies显示文摘Delahaye A Bitoun P Drunat S 2012Eur J Hum Genet2012,20,5:1
3Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes显示文摘David A Bitoun P Lacombe D 1999J Med Genet1999,36,8:1
4Blood flow through a stenosis in micro circulation显示文摘Bitoun J P Bellet D 1986Biorheology1986,13,1:1
5Dynamin 2-related centronuclear myopathy:clinical,histological and genetic aspects of further patients and review of the literature显示文摘Jeub M Bitoun M Guicheney P 2008Clin Neuropathol2008,27,6:1
6Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies显示文摘Delahaye A Bitoun P Drunat S 2012Eur J Hum Genet2012,20,5:1
7Identification of dominant FOXE3 and PAX6 mutations in patients with congenital cataract and aniridia 显示文摘BREMOND-GIGNAC D BITOUN P REIS LM COPIN H MUR- RAY JC SEMINA EV 2010Mol Vis2010,16,:1
8Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies显示文摘Delahaye A Bitoun P Drunat S 2012Eur J Hum Genet2012,20,5:1
9Hydrometro-colpos and polydactyly: a common neonatal presentation of Bardet-Biedl and Mckusick-Kaufman syndromes显示文摘David A Bitoun P Lacombe D 1999J Med Genet1999,36,:1
10Interplay of IscA and IscU in biogenesis of iron-sulfur clusters 显示文摘YANG J BITOUN J P DING H 2006J BioI Chem2006,281,27:1
11Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North American显示文摘 Bergen AA Bitoun P 2001Hum Genet2001,108,2:1
12Escherichia coli FtnA acts as an iron buffer for re-assembly of iron-sulfur clusters in response to hydrogen peroxide stress显示文摘Bitoun J P Wu G Ding H 2008Biometals2008,21,6:1
13Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes显示文摘David A Bitoun P Lacombe D 1999J Med Genet1999,36,8:1
14Dynamin 2-related centronuclear myopathy: clinical, histological and genetic aspects of further patients and review of the literature 显示文摘Jeub M Bitoun M Guicheney P 2008Clin Neuropathol2008,27,:1
15Mutations in dynamin 2 cause dominant centronuclear myopathy显示文摘Bitoun M Romero NB Guicheney P 2006Med Sci:Paris2006,22,2:1
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