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104篇 您的检索式：期刊名="European Journal of Human Genetics"

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	题名	作者	年代	出处	被引量
1	Twenty-year trends in the prev- alence of down syndrome and other trisomies in Europe: impact of maternal age and prenatal screening显示文摘	Loane M Marie JK Addor MC	2013	European Journal of Human Genetics2013，21，1：	1
2	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
3	Best Practice Guidelines for Molecular Analysis in Spinal Muscular Atrophy显示文摘	Scheffer H Cobben J M Matthijs G	2001	European Journal of Human Genetics2001，9，7：	1
4	Molecular characterisation of 34 patients with biotinidase deficiency ascertained by newborn screening and family investigation 显示文摘	Muhl ML D Moslinger CB ltem	2001	European Journal of Human Genetics2001，9，4：	1
5	Genetic and clinicalspecificity of 26 symtomatic carriers for dystrophinopathiesat pediatric age显示文摘	Mercier S Toutain A Toussaint A	2013	European Journal of Human Genetics2013，2，：	1
6	Haplotypes vs singlemarker linkage disequilibrium tests: what do wegain显示文摘	Akey J Jin L Xiong M M	2001	European Journal of Human Genetics2001，9，4：	1
7	Mutation screening of BMP4, BMP7, HOXA4 and HOXB6 genes in Chinese patients with hypospadias 显示文摘	Taiji Chen Qiang Li Yan Shen	2007	European Journal of Human Genetics2007，，15：	1
8	FGFR2, FGFS, FGF10 and BMP7 as candidate genes for hypospadias显示文摘	Ana Beleza-Meireles A Nordenskj81d	2007	European Journal of Human Genetics2007，，15：	1
9	The CTLA4 region as a general autoimmunity fac- tor: an extended pedigree provides evidence for synergy with the HLA locus in the etiology of type 1 diabetes mellitus, Hashimoto's thyroiditis and Graves' disease 显示文摘	Einarsdottir E Soderstrom I Lofgren-Burstrom A	2003	European Journal of Human genetics2003，11，1：	1
10	Diagnostic accuracy of methods for the detection of BRCA1 and BRCA2 mutations: a systematic review显示文摘	Gerhardus A Schleberger H Schlegelberger B	2007	European Journal of Human Genetics2007，15，6：	1
11	Breast can- cer susceptibility: current knowledge and implications for genetic counselling 显示文摘	Ripperger T Gadzicki D Meindl A	2008	European Journal of Human Genetics2008，17，6：	1
12	Ab initio prediction of mutation-induced cryptic splice-site activation and exon skipping显示文摘	Divina P Kvitkovicova A Buratti E	2009	European Journal of Human Genetics2009，17，5：	1
13	Different penetrance of neurological symptoms associated with a mutation in the mitochondrial tRNASer(UCN) gene显示文摘	Verhoeven K Ensink RJH Tiranti V	1999	European Journal of Human Genetics1999，7，：	1
14	C4ST-1/CHST11-controlled chondroitin sulfatinn interferes with oncogenic HRAS sig naling in Costello syndrome显示文摘	Kltippel M Samavarchi-Tehrani P Liu K	2012	European Journal of Human Genetics2012，20，8：	1
15	Connexin26 mutations in cases of sensorineural deafness in eastern Austria 显示文摘	KlemensFrei Ka rolySzuhai KlaraWeipoltshammer	2002	European Journal of Human Genetics2002，10，：	1
16	Reduced fo- late cartier polymorphism (80A→G) and neural tube defects显示文摘	DE MARCO P CALEVO MG MORONI A	2003	European Journal of Human Genetics2003，11，：	1
17	Asso- ciation of FGFR2 gene polymorphisms with the risk of breast cancer in population of West Siberia 显示文摘	Boyarskikh UA Zarubina NA Bihueva JA	2009	European Journal of Human Genetics2009，17，：	1
18	Application of SNP array for rapid prenatal diagnosis : implementation, genetic counseling and diagnostic flow显示文摘	Malgorzata Srebniak Marjan Boter Gre' tel Oudesluijs	2011	European Journal of Human Genetics2011，19，：	1
19	Novel promoter and exon mutations of the BMPR2 gene in Chinese patients with pulmonary arterial hypertension显示文摘	Wang H Li W Zhang WL		European Journal of Human Genetics0，，：	1
20	Novel allelic variants and evidence for a prevalent mutation in URAT1 causing renal hypouricemia:biochemical,genetics and functional analysis显示文摘	Stiburkova B Sebesta I Ichida K	2013	European Journal of Human Genetics2013，21，10：	1

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