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16篇 您的检索式:作者名="Schollen"
    题名 作者 年代 出处 被引量
1Increased recurrence risk in eongenital disorders of glyeosylation type la (CDG-Ia) due to a transmission ratio distortion显示文摘Schollen E Kjaergaard S Martinsson T 2004J Med t enet2004,41,11:1
2Unusual molecular findings in autosomal recessive spinal muscular atrophy显示文摘Matthijs G Schollen E Legius E 0,,:1
3A novel MSX1 mu- tation in hypodontia显示文摘De Muyrick S Schollen E Matthijs G 2004Am J Med Genet A2004,128,4:1
4A novel MSX1 mutation in hypodontia 显示文摘De Muynek S Schollen E Matthijs G 2004Am J Med Genet A2004,128,4:1
5A novel MSX1 mutation in hypodontia 显示文摘De Muynck S Schollen E Carels C 2004Am J Med Genet2004,128,4:1
6Kiloh-Nevin syndrome: a compression neuropathy or brachial plexus neuritis? 显示文摘Schollen W Degreef I De Smet L 2007Acta Orthop Belg2007,73,3:1
7Matthijs DiagnosticDHPLC Quality Assurance (DDQA): a collaborative approach to thegeneration of validated and standardized methods for DHPLC-basedmutation screening in clinical genetics laboratories Hum 显示文摘Schollen E Dequeker E McQuaid S 2005Mutat2005,25,6:1
8Diagnostic DHPLC quality assurance (DDQA):A collaborative approach to the generation of validated and standardized methods for DHPLC-based mutation screening in clinical genetics laboratories显示文摘Els Schollen Elisabeth Dequeker Shirley McQuaid 2005Human Mutation2005,25,6:1
9Gross rearrangements in the MECP2 gene in three patients with Rett syndrome:Implications for routine diagnosis of Rett syndrome显示文摘Schollen E Smeets E Deflem E 2003Hum Mutat2003,22,2:1
10Genetic labeling does not detect epithelial-to-mesenchymal transition of cholangiocytes in liver fibrosis in mice显示文摘Schollen D Osterreicher CH Scholten A 0,,:1
11Unusual molecular findings in autosomal recessive spinal muscular atrophy 显示文摘MatthijsG SchollenE LegiusE etal 1996J Med Genet1996,33,6:1
12PTPN 11 mutations in LEOPARD syndrome显示文摘Legius E Schrander-Stumpel C Schollen E 2002J Med Genet2002,39,8:1
13A novel MSX1 mutation in hypodontia显示文摘De Muynck S Schollen E Matthijs G 2004Am J Med Genet A2004,128,4:1
14Rett syndrome in adolescent and adult females:clinical and molecular genetic findings显示文摘Smeets E Schollen E Moog U 0,,:1
15Congenital disorders of glycosylation (CDG): Update and Perspectives显示文摘Zeevaert R Schollen E Hubert C 2006Current Pediatric Reviews2006,24,:1
16Gross rearrangements in the MECP2 gene in three patients with Rett syndrome:implication for routine diagnosis of Rett syndrome显示文摘Schollen E Smeets E Deflem E 2003Hum Mutat2003,22,:1
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