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8篇 您的检索式:期刊名="Case Rep Genet"
    题名 作者 年代 出处 被引量
1A case of false negative nipt for down syndrome-lessons learned 显示文摘Smith M Lewis KM Holmes A 2014Case Rep Genet2014,,4:1
2Un?explained false negative results in noninvasive prenatal testing-two cases involving trisomies 13 and 18显示文摘Hochstenbach R Page-Christiaens GCML Oppen ACC 2015Case Rep Genet2015,,92:1
3Gain of chromosome 4qter and loss of 5pter: An unusual case with features of Cri-du-chat syndrome显示文摘Sheth F Gohel N Liehr T 2012Case Rep Genet2012,2012,15:1
4Prenatal diagnosis and postnatal followup of partial trisomy 13q and partial monosomy 10p: a case report and review of the literature显示文摘Wei Y Gao X Yan L 2012Case Rep Genet2012,82,:1
5Previously Unreported Chro- mosomal Aberrations of t ( 3 ; 3 ) ( q29 ; q23), t ( 4 ; 11 ) ( q21 ; q23 ), and t(11;18)(q10;q10) in a Patient with Accelerated Phase Ph + CML显示文摘Aydin C Cetin Z Salim O 2014Case Rep Genet2014,2014,58:1
6A De Novo Whole GCK Gene Deletion Not Detected by Gene Sequencing,in a Boy with Phenotypic GCK Insufficiency显示文摘Birkebaek NH Sorensen JS Vikre-Jorgensen J 2011Case Rep Genet2011,2011,76:1
7Novel SMAD3 mutation in a patient with hypoplastie left heart syndrome with significant aortic aneurysm 显示文摘FITZGERALD K K BHAT A M CONARD K 2014Case Rep Genet2014,,59:1
8Unexplained false negative results in noninvasive pre- natal testing:two cases involving trisomies 13 and 18显示文摘Hochstenbach R Page-Christiaens GC Van Oppen AC 2015Case Rep Genet2015,44,92:1
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