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29篇 您的检索式:期刊名="Am Hum C enet"
    题名 作者 年代 出处 被引量
1Segregation and analysis of phenotypic components of learning disabilities I : Nonword memory and digitspon显示文摘Wisman EM Petersond Levtegger AL 2000Am J Hum C enet2000,28,7:1
2Structure 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 1999Am J Hum C enet1999,64,1:1
3CAG 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 2009Am J Hum C enet2009,84,3:1
4Identification of unparental dismony following prenatal detection of Robertsonian translocation and isochromnsome显示文摘Berend SA Herwitz J McCaskill C 2000Am J Hum C enet2000,66,6:1
5Construction 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 1980Am J Hum C enet1980,32,:1
6Nonsyndromie heating impairment: Unparalleled heterogeneity显示文摘van Camp G Willems PJ Smith RJ 1997Am J Hum C enet1997,60,4:1
7Genetle cthe Han Chinese population revealed by 8enome-wide SNP vadafion显示文摘CHEN J ZHENG H BEI J X etal 2009Am J Hum C enet2009,85,6:1
8Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndreme显示文摘 Pan dita RK Morrow BE 1999Am J Hum C enet1999,64,4:1
9Identification of a KCNE2 gain-of-function mutation in patients with familial atrial fibrillation显示文摘Yang Yi Qing Xia Min 2004Am J Hum C enet2004,75,:1
10The inheritance of liability to certain disease estimated from the incidence among relatives显示文摘Falconer DS 1985Am Hum C enet1985,29,1:1
11The interleukin-1 gene cluster contains a major susceptibility locus for ankylosing spondylitis显示文摘Timms AE Crane AM Sims AM 2004Am J Hum C enet2004,75,4:1
12ACId3 Genotype is associated with human elite athletic performance显示文摘Yang N MacArthur DG Gulbin JP 2003Am J Hum C enet2003,73,3:1
13Molecular cytogenetic characterization of 17 rob (13q14q) Robertsonian translocations by FISH, narrowing the region containing the breakpoints 显示文摘Han JY 1994Am J Hum C enet1994,55,5:1
14Meta -analysis of 13 genome scans reveals multiple cleft lip/palate genes with novel loci on 9q21 and 2q32 - 35 显示文摘Marazita ML Murray JC Lidral AC 2004Am J Hum C enet2004,75,2:1
15DNA typing and genetic mapping with trimeric and tetrameric tandem repeats 显示文摘EDARDS A CIVITELLO A HAMMOND HA 1991Am J Hum C enet1991,49,4:1
16A mutation of beta-actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia 显示文摘Procaccio V Salazar G Ono S 2006Am J Hum C enet2006,78,6:1
17Rapid clearance of fetal DNA from maternal plasma显示文摘 Zhang F Leung TN 1999Am J Hum C enet1999,64,:1
18Identical mitochondrial DNA deletion in a woman with ocular myopathy and in her son with pearson syndrome显示文摘Shanske S Tang Y Hinmo M 2002Am J Hum C enet2002,71,:1
19Vacuoliting megalencephalic leukoencephalopathy with subcortical cysts, mapped to chromosome 22qtel显示文摘Topcu M Gartioux C Ribierre F 2000Am J Hum C enet2000,66,2:1
20Construction of a genetic linkage map in man using resrrlction fragment length polymorphisms 显示文摘Botstein D Wire R L Skolnick M 2011Am J Hum C enet2011,32,:1
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