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27篇 您的检索式：期刊名="Eur HumGenet"

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	题名	作者	年代	出处	被引量
1	Strategies for the rapidprenatal diagnosis of chromosome aneuploidy显示文摘	Mann K Donaghue C Fox S P	2004	Eur J HumGenet2004，12，11：	1
2	Analysis offour neuroligin genes as candidates for autism显示文摘	Ylisaukko-oja T Rehnstrom K Auranen M	2005	Eur J HumGenet2005，13，12：	1
3	Methylation analysis of the intergenic differentially methylated region of DLKI-GTL2 in human显示文摘	De Temmerman N Hilven P	2007	Eur J HumGenet2007，15，3：	1
4	The human EZH2 gene:genomic organisation and revised mapping in 7q35 within thecritical region for malignant myeloid disorders显示文摘	Cardoso C Mignon C Hetet G	2000	Eur J HumGenet2000，8，3：	1
5	Towards mapping phenotypical traits in 18p-syndrome by array-based comparative genomic hybridisation and fluorescent in situ hybridisation显示文摘	Brenk CH Prott EC Trost D	2007	Eur J HumGenet2007，15，1：	1
6	An association study ofthe N-methyl-D-aspartate receptor NR1 subunit gene(GR1N1 ) and NR2B subunit gene ( GRIN2B) in schiz-ophrenia with universal DNA microarray显示文摘	Qin S Zhao X Pan Y	2005	Eur J HumGenet2005，13，7：	1
7	A new diagnosticworkflow for patients with mental retardation and/or multiplecongenital abnormalities: test arrays first 显示文摘	Gijsbers AC Lew JY Bosch CA	2009	Eur J HumGenet2009，17，11：	1
8	CD40 ligand gene andKawasaki disease显示文摘	Onouchi Y Onoue S Tamari M	2004	Eur J Humgenet2004，12，12：	1
9	Molecular characterizationof SMN copy number derived from carrier screening and from corefamilies with SMA in a Chinese population 显示文摘	Sheng YZ Xiong F Chen YJ	2010	Eur J HumGenet2010，18，9：	1
10	Screening for Pax6 genemutations is consistent with haplo insufllciency as the mainmechanism leading to various ocular defects 显示文摘	Vincent MC Pujo AL Olivier D	2003	Eur J HumGenet2003，22，2：	1
11	Advances in AAV-mediated gene transfer for the treatment of inherited disorders 显示文摘	Hildinger M Auricchio A	2004	Eur HumGenet2004，12，：	1
12	The role of mitochondrial genome in essential hypertension in a Chinese Han population 显示文摘	Zhu HY Wang SW Martin LJ	2009	Eur J HumGenet2009，17，11：	1
13	Sequence analysis of 21 genes located in the Kartagener syndrome linkage region on chromosome 15q显示文摘	Geremek M Schoenmaker F Zietkiewicz E	2008	Eur J HumGenet2008，16，6：	1
14	Glycerol kinasedeficiency alters expression of genes involved in lipid metabolism,carbohydrate metabolism,and insulin signaling显示文摘	Rahib L Maclennan NK Horvath S	2007	Eur J HumGenet2007，15，6：	1
15	The interfacebetween assisted reproductive technologies and genetics:technical,social,ethical and legal issues显示文摘	Soini S Ibarreta D Anastasiadou V	2006	Eur J HumGenet2006，14，5：	1
16	Familial deletion withinNLGN4 associated with autism and Tourette syndrome 显示文摘	LawsonYuen A Saldivar J S Sommer S	2008	Eur J HumGenet2008，16，5：	1
17	The PDGF-Cregulatory region SNP rs28999109 decreases promotertranscriptional activity and is associated with CL/P显示文摘	Choi SJ Marazita ML Hart PS	2009	Eur J HumGenet2009，17，6：	1
18	Clinical utilitygene card for: Dent disease (Dent-1 and Dent-2) 显示文摘	Ludwig M Levtchenko E Bokenkamp A	2014	Eur J HumGenet2014，22，11：	1
19	Listen carefully:LISl and DCX MLPAin lissencephaly and subcortical band heterotopia显示文摘	Delatycki MB Leventer RJ	2009	Eur J HumGenet2009，17，：	1
20	A mitochondrial mutationA4401G is involved in the pathogenesis of left ventricularhypertrophy in Chinese hypertensives显示文摘	Zhu HY Wang SW Liu L	2009	Eur J HumGenet2009，17，2：	1

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