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13篇 您的检索式：期刊名="EurJ HumGenet"

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		题名	作者	年代	出处	被引量
	1	TLR4/Asp299Gly, CD14/C-260T, plasma levels of the soluble receptor CD14 and the risk of coronary heart disease: The PRIME Study 显示文摘	Morange PE Tiret L Saut N	2004	EurJ HumGenet2004，12，12：	1
	2	Association of the CT- LA24 gene with rheumatoid arthritis in Chinese Han popula- tion显示文摘	Cai L Zhang DQ Shi YQ	2005	EurJ HumGenet2005，13，：	1
	3	Identification and characterization of a novel member of the EXT gene family, EXTL2 显示文摘	Wuyts W Van Hul W Hendrickx J	1997	EurJ HumGenet1997，5，：	1
	4	Instability of expanded CAG/CAA repeats in spinocerebellar ataxia type 17 显示文摘	Gao R Matsuura T Coolbaugh M	2008	EurJ HumGenet2008，16，：	1
	5	Identification of novel deletions of 15@1@3 in Angelman syndrome by array-CGH: molecular characterization and genotype-phenotype correlations 显示文摘	Sahoo T Bacino CA German JR	2007	EurJ HumGenet2007，15，：	1
	6	Enhancer elements up- stream of the SHOX gene are active in the developing limb 显示文摘	Durand C Bangs F Signolet J	2010	EurJ HumGenet2010，18，5：	1
	7	Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syn- drome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese显示文摘	Tsukamoto K Suzuki H Harada D	2003	EurJ HumGenet2003，11，：	1
	8	Novel and recurrent non-truncating mutations of the MITE basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes 显示文摘	Loger S Balguerie X Goldenberg A	2012	EurJ HumGenet2012，20，5：	1
	9	Hereditary cutaneomucosal venous malformations are caused by TIE2 mutations with widely variable hyper-phosphorylating effects 显示文摘	Wouters V Limaye NM Irrthum A	2010	EurJ HumGenet2010，18，4：	1
	10	Rapid aneuploidy detection with multiplex ligation-dependent probe amplification: a prospective study of 4000 amniotic fluid samples显示文摘	Van Opstal D Borer M De Jong D	2009	EurJ HumGenet2009，17，1：	1
	11	Distribution of three HIV 1 resistance- conferring polymorphisms (SDF1- 3'A, CCR2-641, and CCRS-Delta32) in globalpopulations显示文摘	Su B Sun G Lu D	2000	EurJ HumGenet2000，，8：	1
	12	Cystatin B:mutation detection,alternative splicing and expression in progressive myclonus epilepsy of Unverricht-Lundborg type (EPM1)patients显示文摘	Joensuu T Kuronen M Alakurtti K	2007	EurJ HumGenet2007，15，2：	1
	13	High-resolution SNP arrays in mental retardation diagnostics: how much do we gain? 显示文摘	Bernardini L Alesi V Loddo S	2010	EurJ HumGenet2010，18，：	1

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