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41篇 您的检索式：期刊名="J Hum C enet"

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	题名	作者	年代	出处	被引量
1	Genetics and pathophysiology of mental retardation显示文摘	Chelly J Khelfaoui M Francis F	2006	Eur J Hum C enet2006，14，6：	1
2	Segregation and analysis of phenotypic components of learning disabilities I : Nonword memory and digitspon显示文摘	Wisman EM Petersond Levtegger AL	2000	Am J Hum C enet2000，28，7：	1
3	Composite measure of linkage disequilibrium for testing interaction between unlinked loci 显示文摘	Wu X Jin L Xiong M	2008	Eur J Hum C enet2008，16，5：	1
4	Structure of the gene for congenital nephrotic syndrome of the Finnish type( NPHS1 )and characterization of mutations显示文摘	Lenkkeri U Mannikko M McCready P	1999	Am J Hum C enet1999，64，1：	1
5	Variant on 9p21 strongly associates with coronary heart disease, but lacks association with com- mon stroke显示文摘	Lemmens R Abboud S Robberecht W	2009	Eur J Hum C enet2009，17，10：	1
6	Concentrations of the atherogenic Lp (a) are elevated in FH 显示文摘	Lingenhel A Kraft HG Kotze M	1998	Ear J Hum C enet1998，6，：	1
7	CAG expan- sion in the Huntington disease gene is associated with a specific and targetable predisposing haplogroup显示文摘	Warby S C Montpetit A Hayden A R et 02	2009	Am J Hum C enet2009，84，3：	1
8	Functional impairment of two novel mutations detected in lipoprotein-associated phospholipase A2 ( Lp-PLA2 ) deficiency patients 显示文摘	Ishihara M Iwasaki T Nagano M	2004	J Hum C enet2004，49，6：	1
9	Distribution of 1TPA P32T alleles in multiple wodd populations 显示文摘	Marsh S King CR Ahluwalia R el al	2004	J Hum C enet2004，49，10：	1
10	Identification of unparental dismony following prenatal detection of Robertsonian translocation and isochromnsome显示文摘	Berend SA Herwitz J McCaskill C	2000	Am J Hum C enet2000，66，6：	1
11	Identification of singlenueleotide polymorphisms in the human Lpinl gene 显示文摘	Cao H Hegele R A	2002	J Hum C enet2002，47，7：	1
12	Construction d a genetic linkage map in man using restriction fragment length polymotphisms 显示文摘	Botatein D White L R Skolnick M et el	1980	Am J Hum C enet1980，32，：	1
13	Nonsyndromie heating impairment: Unparalleled heterogeneity显示文摘	van Camp G Willems PJ Smith RJ	1997	Am J Hum C enet1997，60，4：	1
14	Genetle cthe Han Chinese population revealed by 8enome-wide SNP vadafion显示文摘	CHEN J ZHENG H BEI J X etal	2009	Am J Hum C enet2009，85，6：	1
15	Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndreme显示文摘	Pan dita RK Morrow BE	1999	Am J Hum C enet1999，64，4：	1
16	Identification of a KCNE2 gain-of-function mutation in patients with familial atrial fibrillation显示文摘	Yang Yi Qing Xia Min	2004	Am J Hum C enet2004，75，：	1
17	The interleukin-1 gene cluster contains a major susceptibility locus for ankylosing spondylitis显示文摘	Timms AE Crane AM Sims AM	2004	Am J Hum C enet2004，75，4：	1
18	Symptomatic lipid storage in carriers for the PNPLA2 gene 显示文摘	Janssen MC van Engelen B Kapusta L	2013	Eur J Hum C enet2013，21，8：	1
19	ACId3 Genotype is associated with human elite athletic performance显示文摘	Yang N MacArthur DG Gulbin JP	2003	Am J Hum C enet2003，73，3：	1
20	Molecular cytogenetic characterization of 17 rob (13q14q) Robertsonian translocations by FISH, narrowing the region containing the breakpoints 显示文摘	Han JY	1994	Am J Hum C enet1994，55，5：	1

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