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[期刊论文] 作者:David T.Miller,James F.Gusella,Orah S.Platt,on behalf of the Children\'s Hospital Boston Genotype Phenotype,
来源:遗传学报 年份:2011
Recurrent genomic imbalances at 16p 11.2 are genetic risk factors of variable penetrance for developmental delay and autism.Recently, 16pl 1.2(chr16:29.5 Mb—30...
Molecular analysis of a deletion hotspot in the NRXN1 region reveals the involvement of short invert
[会议论文] 作者:Shen,Feng Zhang,Colby Chiang,Vamsee Pillalamarri,Ian Blumenthal,Michael Talkowski,Bai-Lin Wu,James F.Gusella,
来源:中国遗传学会第九次全国会员代表大会暨学术研讨会 年份:2013
NRXN1 microdeletions occur at relatively high frequency and confer increased risk for neurodevelopmental and neurobehavioral abnormalities.The mechanism that makes NRXN1 a deletion hotspot is unknown....
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