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144篇 您的检索式：期刊名="J Human Genetics"

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	题名	作者	年代	出处	被引量
1	Epidemiology of A3243G,4the mutation of mitochondrial encephalomyopathy,lactic acidosis,and stroke-like episodes:prevalence of the mutation in an adult population显示文摘	Moilanen J Uimonen S	1998	Am J Human Genet1998，63，2：	1
2	Construction of a genetic linkage map in man using restriction fragment length polymorphisms显示文摘	Botstein D White R L Skolnick M et ol	1980	Am J Human Genet1980，32，3：	1
3	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
4	Specific combinations of HLA-DR2 and DR3 class II haplotypes contribute graded risk for disease susceptibility and autoantibodies in human SLE显示文摘	Graham R Ortmann W Rodine P	2007	Euro- pean J Human Genetics2007，15，8：	1
5	Molecular detection of circu- lating thyroid specic transcripts (TSHR/Tg-mRNAs) in thyroid cancer patients : Their diagnostic significance显示文摘	SALAW H T SARA H A AMAL F	2011	Egypt J Med Human Genet2011，12，1：	1
6	FISH mapping of de novo apparently balanced chromosome rearrangements identifies characteristics associated with phenotypic abnormality显示文摘	Fantes JA Boland E Ramsay J	2008	Am J Hum Genet JT American Journal of Human Genetics2008，82，4：	1
7	Germ-line p53 mutations in 15 families with Li-Fraumeni syndrome显示文摘	Frebourg T Barbier N Yan Y X Garber J E Dreyfus M Fraumeni J	1995	Am J Human Genet1995，56，：	1
8	Variation in the interleukin4-receptor alpha gene confers susceptibility to asthma and atopy in ethically diverse populations显示文摘	Ober C Leavitt SA Tsalenko A	2000	Am J Human Genet2000，66，：	1
9	The gene for cystathionine beta-synthase (CBS) maps to the subtelomeric region on human chromosome 21q and to proximal mouse chromosome 17显示文摘	Munke M Kraus Jp Ohura T	1988	Am J Human Genet1988，42，4：	1
10	A hypervariable microsatellite revealed by in vitro amplification of dinucleotide repeat within the cardiac muscle actin gene 显示文摘	Litt M Luty J A	1989	American J of Human Genetics1989，44，：	1
11	Whole-genome sequencing uncovers the genetic basis of chronic mountain sickness in andean highlanders 显示文摘	Zhou D Udpa N Ronen R	2013	Am J Human Genetics2013，93，3：	1
12	Materual serum hCG screening for chromosomal abnormalities显示文摘	Bogart M Jones OW Best B	1990	Am J Human Genet1990，47，：	1
13	Inheritance of an RNA splicing mutation (G+ 1 IVS20) in the type III procollagen gene (COL3AI) in a family having aortic aneurysms and easy bruisability: phenotypic overlap between familial arterial aneurysms and Ehlers- Danlos syndrome type iv显示文摘	Kontusaari Sz Tromp Gp Kuivaniemi H	1990	Am J Human Genet1990，47，1：	1
14	Association of gene polymorphism with genetic susceptibility to stroke in Asian populations:a meta-analysis显示文摘	Banerjee I Gupta V Ganesh S	2007	J Human Genetic2007，52，3：	1
15	Ge-nome-wide pooling approach identifies SPATA5 as anew susceptibility locus for alopecia areata显示文摘	Forstbauer LM Brockschmidt FF /V\oskvina V	2012	Europe-an J Human Genetics2012，20，4：	1
16	Consturction o a genetic linkage map in man using restriction ragment length polymorphisms显示文摘	Botsein D White R L Skolnick M	1980	Am J Human Genet1980，32，：	1
17	The c-Jun NH2-terminal kinase 3 ( JNK3 ) gene : genomic structure, chromosomal assignment, and loss of expression in brain tumors 显示文摘	YOSHIDA S FUKINO K HARADA H	2001	J Human Genet2001，46，：	1
18	Construction of a genetic linkage map in man using restriction fragment length polymorphisms显示文摘	Botstein D White R I Skolnich M	1980	Am J Human Genet1980，32，：	1
19	A unified approach to genotype imputation and haplotype-phase inference for large data sets of trios and unrelated individuals 显示文摘	Browning BL Browning SR	2009	Am J Human Genetics2009，84，2：	1
20	The age dependency of gene expression for plasma lipids,lipoproteins,and apolipoproteins显示文摘	Snieder H van Doornen LJP Boomsma DI	1997	Am J Human Genet1997，60，3：	1

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