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26篇 您的检索式:作者名="AL Beaudet"
    题名 作者 年代 出处 被引量
1Use of array CGH in the evalutation of dysmorphology, malformations, developmental delay, and idio- pathic mental retardation显示文摘Stankiewicz P Beaudet AL 2007Curr Opin Genet Dev2007,17,8:1
2Polymorphisms and linkage analysis for ICAM-1 and the selectin gene cluster显示文摘Vora DK Rosenbloom Cl Beaudet AL 1994Genomics1994,21,8:1
3Current controversies in prenatal diagnosis 3: For prenatal diagnosis, should we offer less or more than metaphase karyotyping?显示文摘Ogilvie CM Yaron Y Beaudet AL 2009Prenat Diagn2009,29,1:1
4Angelman syndrome 2005: updated consensus for diagnostic criteria 显示文摘WilLiams CA Beaudet AL Clayton-Smith J 2006AmJ Med Genet A2006,140,:1
5Ube3a-ATS is an atypicalRNA polymerase II transcript that represses the paternalexpression of Ube3a显示文摘Meng L Person RE Beaudet AL 2012Hum Mol Genet2012,21,13:1
6Microarrayanalysis for constitutional cytogenetic abnormalities显示文摘Shaffer LG Beaudet AL Brothman AR 2007GenetMed2007,9,:1
7Mice lacking neuronal nicotinic acetylcholine receptor beta4-subunit and mice lacking both alpha5- and beta4-subunits are highly resistant to nicotine-induced seizures显示文摘Kedmi M Beaudet AL Orr-Urtreger A 2004Physiol Genomics2004,17,2:1
8Immotile sperm and infertility in mice lacking mitochondrial voltage- dependent anion channel type 3 显示文摘Sampson MJ Decker WK Beaudet AL 2001J Biol Chem2001,276,39:1
9Control of leukocyte rolling velocity in TNF-ct induced inflammation by LFA-1 and Mac-1 显示文摘Dune JL Ballantyne CM Beaudet AL 2002Blood2002,99,:1
10Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation 显示文摘Stankiewicz P Beaudet AL 2007Current Opinion in Genetics and Development2007,17,3:1
11Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1显示文摘HT Orr M Chung S Banfi TJ Kwiatkowski A Servadio AL Beaudet AE McCall LA Duvick LPW Ranum HY Zoghbi 1993Nature Genet1993,4,:1
12Creatine metabolism in combined methylmalonic aciduria and homocystinuria显示文摘Bodamer OA Sahoo T Beaudet AL 2005Ann Neurol2005,57,4:1
13Angelman syndrome 2005: updated consensus for diagnostic criteria 显示文摘Williams CA Beaudet AL Clayton-Smith J 2006Am J Med Genet2006,140,:1
14Identification of chromatin remodeling genes Arid4a and Arid4b as leukemia suppressor genes显示文摘Wu MY Eldin KW Beaudet AL 2008J NatiCancer Inst2008,100,17:1
15Iramotile sperm andinfertility in mice lacking mitochondrial voltage-dependent anionchannel type 3 显示文摘Sampson MJ Decker WK Beaudet AL 2001J Biol Chem2001,276,39:1
16Angelman syndrome 2005:updated consensus for diagnostic criteria显示文摘Williams CA Beaudet AL Clayton-Smith J 0,,5:1
17Copy number and SNP arrays in clinical diagnostics显示文摘Schaaf CP Wiszniewska J Beaudet AL 2011Annu Rev Genomics Hum Genet2011,12,:1
18A search for the primary abnormality in adult-onset type Ⅱ citrullinemia显示文摘Kobayashi K Shaheen N Kumashiro R Tanikawa K O'Brien WE Beaudet AL 1993Am J Hum Genet1993,53,5:1
19Immotilesperm and infertility in mice lacking mitochondrial voltage dependent anion channel type 显示文摘Sampson MJ Decker WK Beaudet AL 2001Biol Chem2001,276,39:1
20Use of array CGH in the evaluation of dsymorphology, malformations, developmental delay,and idiopathic mental retardation显示文摘Stankiewicz P Beaudet AL 2007Curt Opin Genet Dev2007,17,:1
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