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96篇 您的检索式:作者名="Fryns"
    题名 作者 年代 出处 被引量
1A novel NOG mutation Pro37Arg in a family with tarsal and carpal synostoses显示文摘 Fryns JP Devriendt K 2004Am J Med Genet A2004,128,:1
2Intelligence, behaviour and psychosocial development in Turner syndrome: Across-sectional study of 50 pre-adolescent and adolescent girls (4-20 years)显示文摘Swillen A Fryns JP Kleczkowska A 1993Genet Couns1993,4,1:1
3Symbrachydactyly in Turner′s syndrome显示文摘De Smet L Fryns JP 1995Genet Couns1995,6,3:1
4Cytogenetic survey in couples with recurrent fetal wastage显示文摘Fryns J P Kleczkowska A Kubien E 1984Hum Genet1984,65,:1
5Ring chromosome 15 syndrome显示文摘Fryns JP Timmermans J Hondt FD 1979Hum Genet1979,51,:1
6Melkersson-Rosenthal syndrome and de novo autosomal t(9 ;21 )( pl 1 ;pl 1 ) translocation 显示文摘Smeets E Fryns JP Van den Berghe I-I 1994Clin Genet1994,45,6:1
7Melkersson-Rosenthal syndrome and de novo autosomal t ( 9,21 ) ( pl 1 ; pl I ) translosation 显示文摘Smeet E Fryns JP Van Den Berghe H 1994Clin Gen- et1994,45,6:1
8Ring syndrome caused by ring chromosome 7 without loss d subtelomeric sequences显示文摘Vermeesch JR Baten E Fryns JP 2002Clin Genet2002,62,:1
9Cytogenetic survey in couples with recurrent fetal Wastage显示文摘Fryns JP Warburnton D 1984Hum Genet1984,65,4:1
10Multiple synostosis syndrome 显示文摘Pedersen JC Fryns JP Carpentier G 1980Eur J Pediatr1980,134,3:1
11Pathogenesis of congenital cystic adenomatoid malformation of the lung 显示文摘Moerman P Fryns JP Vandenberghe K 1992Histopathology1992,21,4:1
12Diagnosis of miscarriages by molecular karyotyping:benefits and pit-146falls显示文摘Robberecht C Schuddinck V Fryns JP 2009Genet Med2009,11,9:1
13Physical and psychomotor development of 1799 children born after second trimesteamniocentesis for maternal serum positive triple test screening annormalprenatal karyotype 显示文摘I Witters P Moerman AVan Assche J - P Fryns 2002J Med Genet2002,39,:1
14Pure distal monosomy 10q26 in a patientdisplaying clinical features of Prader-Willi syndrome duringinfancy and distinct behavioural phenotype in adolescence 显示文摘Lukusa T Fryns JP 2000Genet Couns2000,11,2:1
15Prenatal diagnosis of trisomy 21 :reg- istration results from a single genetic center 显示文摘Witters I Fryns JP 2008Genet Couns2008,19,2:1
16Cytomegalovirus reactivation in pregenancy and subsequent isolated bilateral hearing loss in the infant显示文摘Witters I Van Ranst M Fryns JP 2000Genet Couns2000,11,:1
17Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD显示文摘Marjolijn Renard Bert Callewaert Machteld Baetens Laurence Campens Kay MacDermot Jean-Pierre Fryns Maryse Bonduelle Harry C. Dietz Isabel Mendes Gaspar Diogo Cavaco Eva-Lena Stattin Constance Schrander-Stumpel Paul Coucke Bart Loeys Anne De Paepe Julie De 2011International Journal of Cardiology2011,,:1
18Zincmetalloproteinase,ZMPSTE24,is mutated in mandibuloacraldysplasia 显示文摘Agarwal A K Fryns J P Auchus R J 2003Hum Mol Genet2003,12,16:1
19The use of 16S ribosomal RNA analyses to investigate the phylogency of the family legionellaceae 显示文摘FryN K Warwick S Saunders N A 1991Journal of General Microbiology1991,137,:1
20Gytogentic Cervey in Couples with Carrent fetal wastage显示文摘Fryns JP Rleczkowska A Lebas E 1984Human Gene1984,65,:1
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