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1363篇 您的检索式：期刊名="Eur J Hum Genet"

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	题名	作者	年代	出处	被引量
1	From chromosomes to DNA, a revolution in prenatal diagnosis显示文摘	Breuning MH	2005	Eur J Hum Genet2005，13，5：	1
2	An autosomal dominant posterior polar cataract locus maps to human chromosome 20p12-q12显示文摘	Yamada K Tomita H Yoshiura K	2000	Eur J Hum Genet2000，8，7：	1
3	MECP2 gene mutation analysis in Chinese patients with Rett syndrome 显示文摘	WANG YP BAO XH	2002	Eur J Hum Genet2002，10，：	1
4	Mutations in PAXI may be associated with Klippel - Feil syndrome显示文摘	MeGaughran Ji Oates A Donnai D	2003	Eur J Hum Genet2003，11，：	1
5	The GENCODE exome: sequencing the complete human ex- ome显示文摘	Coffey A J Kokocinski F Calafato M S	2011	Eur J Hum Genet2011，19，7：	1
6	Identification of point mutations in Turkish DMD/BMD families using multiplex-ingle stranded conformation analysis(SSCA) 显示文摘	Eraslan S Kayserili H Apak MY	1999	Eur J Hum Genet1999，7，7：	1
7	Primary ciliary dyskinesia:a genome-wide linkage analysis reveals extensive locus heterogeneity显示文摘	Blouin JL Meeks M Radhakrishna U	2000	Eur J Hum Genet2000，8，2：	1
8	The molecular genetics of haemochromatosis显示文摘	LE GAC G FeREC C	2005	Eur J Hum Genet2005，13，11：	1
9	Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation 显示文摘	Rujirabanjerd S Nelson J Tarpey PS	2010	Eur J Hum Genet2010，18，3：	1
10	Genomic profile of copy number variants on the short arm of human chromosome 8显示文摘	Yu S Fiedler S Stegner A	2010	Eur J Hum Genet2010，18，：	1
11	Deletion and duplication screening in the DMD gene using MLPA显示文摘	Lalic T Vossen RH Coffa J e al	2005	Eur J Hum Genet2005，13，：	1
12	Severe cognitive impairment in DMD: obvious clinical indication for Dp71 iso- form point mutation screening 显示文摘	Moizard MP Toutain A Fournier D	2000	Eur J Hum Genet2000，8，7：	1
13	The complex interaction between ApoE promoter and AD : an Italian case-control study 显示文摘	Bizzarro A Seripa D Acciarri A	2009	Eur J Hum Genet2009，17，7：	1
14	Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance显示文摘	Clayton-Smith J Waiters S Hobson E	2008	Eur J Hum Genet2008，17，4：	1
15	The clin- ical spectrum of complete FBNI allele deletions显示文摘	Hilhorst-Hofstee Y Hamel BC Verheij JB	2011	Eur J Hum Genet2011，19，3：	1
16	Rapid testing karyotyping in Down' s syndrome screening: cost-effectiveness and detection of clinically significant chromosome abnormalities显示文摘	Gekas J van den Berg DG Durand A	2011	Eur J Hum Genet2011，19，1：	1
17	TBP as a candidate gene for mental retardation in patients with subtelomeric 6q deletions 显示文摘	Rooms L Reyniers E Scheers S	2006	Eur J Hum Genet JT European Journal of Human Genetics : EJHG2006，14，10：	1
18	A mutational analysis of the SLC26A4 gene in Spanish hearing- impaired families provides new insights into the genetic causes of Pendred syn- drome and DFNIM hearing loss显示文摘	Pera A Villamar M Vinuela A	2008	Eur J Hum Genet2008，16，：	1
19	CD40 ligand gen and Kawasaki disease显示文摘	Onouchi Y Onoue S TamariM	2004	Eur J Hum Genet2004，12，12：	1
20	Cytogenetic analysis of culture failures by comparative genomic hybridization (CGH)-re-evaluation of chromosome aberration rates in early spontaneous abortions 显示文摘	Fritz B Hallermann C Olert J	2001	Eur J Hum Genet2001，9，7：	1

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