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17篇 您的检索式：期刊名="Europ J Hum Genet"

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		题名	作者	年代	出处	被引量
	1	Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia显示文摘	Vincent MC Biancalana V Ginisty D	2001	Europ J Hum Genet2001，9，5：	1
	2	Association of the human adiponectin gene and insulin resistance显示文摘	Filippi E Sentinelli F Trishitta V	2004	Europ J Hum Genet2004，12，3：	1
	3	Mutational spectrum of the ED1 gene in X - linked hypohidrotic ectodermal dysplasia 显示文摘	Vincent MC Biancalana V Ginisty D	2001	Europ J Hum Genet2001，9，：	1
	4	Novel form of X-linked nonsyndromic hearing loss with cochlear malformation caused by a mutation in the type IV collagen gene COL4A6显示文摘	Rost S Bach E Neuner C	2014	Europ J Hum Genet2014，22，：	1
	5	Mutation analysis in the fibroblast growth factor 14 gene: frameshift mutation and polymorphisms in patients with inherited ataxias显示文摘	Dalski A Atici J Kreuz FR	2005	Europ J Hum Genet2005，13，：	1
	6	BOR and BO syndromes are allelic defects of EYA1 显示文摘	Vincent C Kalatzis V Abdelhak S	1997	Europ J Hum Genet1997，5，：	1
	7	An autosomal dominant posterior polar cataract locus maps to human chromosome 20p12-q12 显示文摘	Yamada K Tomita H Yoshiura K	2000	Europ J Hum Genet2000，8，：	1
	8	Genotype - phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21 显示文摘	Lyle R	2009	Europ J Hum Genet2009，17，4：	1
	9	Deafness heterogeneity in a Druze isolate from the Middle East: novel OTOF and PDS mutations, low prevalence of GJB2 35delG mutation and indication for a new DFNB locus显示文摘	Adato A Raskin L Petit C	2000	Europ J Hum Genet2000，8，：	1
	10	Syndromic congenital sensorineural deafness, microtia and micredontia resulting from a novel homoallel- ic mutation in fibroblast growth factor 3 ( FGF3 ) 显示文摘	Alsmadi O Meyer B F Alkuraya F Wakil S Alkayal F A1- Saud H Ramzan K A1 - Sayed M	2009	Europ J Hum Genet2009，17，：	1
	11	Novel POLG muta- tions in progressive external ophthalmoplegia mimicking mitochon- drial neurogastrointestinal encephalomyopathy 显示文摘	Van Goethem G Schwartz M Lofgren A	2003	Europ J Hum Genet2003，11，：	1
	12	NRL S50T mutation and the importance of 'founder effects' in inherited retinal dystrophies显示文摘	Bessant DA Payne AM	2000	Europ J Hum Genet2000，8，10：	1
	13	Evaluation of polymorphisms in the presenilin-1 gene and the butyrylcholinesterase gene as risk factors in sporadic Alzheimer's disease 显示文摘	Morgan K Grainger J Marsters P Morgan L Lowe J Xuereb J Wischik C Harrington C Kalsheker N	1999	Europ J Hum Genet1999，7，：	1
	14	FHR-4A: a new factor H-related protein is encoded by the human FHR-4 gene 显示文摘	Jozsi M Richter H Loschmann I	2005	Europ J Hum Genet2005，13，3：	1
	15	Spinocerebellar ataxia type l(SCA1):Phenotype-genotype correlation studies in intermediate alleles显示文摘	Zuhlke C Dalski A Hellenbroich Y	2002	Europ J Hum Genet2002，10，：	1
	16	Cell death triggered by a novel mutation in the alpha-A-crystallin gene underlies autosomal dominant cataract linked to chromosome 21q显示文摘	Mackay DS Andley UP Shiels A	2003	Europ J Hum Genet2003，11，：	1
	17	Genomic inflation factors under polygenic inheritance显示文摘	Yang J Weedon M N Purcell S	2011	Europ J Hum Genet2011，19，7：	1

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