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7344篇 您的检索式：期刊名="Am J Hum Genet"

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	题名	作者	年代	出处	被引量
1	A stop-codon mutation in the human mtDNA cytochrome c oxidase I gene disrupts the functional structure of complex IV显示文摘	Bruno A Martinuzzi Y Tang Y	1999	Am J Hum Genet1999，65，3：	2
2	Protein PTEN: Form and Function显示文摘	Waite KA Eng C	2002	Am J Hum Genet2002，70，4：	2
3	DNA typing and genetic mapping with trimetric and tetrametric tandem repeats 显示文摘	Edwards A Civitello A Hammond H A	1991	Am J Hum Genet1991，49，4：	2
4	Mapping of a gene for long QT syndrome to chromosome 4q25-27显示文摘	Schott JJ Charpentier F Pelter S	1995	Am J Hum Genet1995，57，：	1
5	Estimating the power of a proposed linkage study for a complex genetics trait 显示文摘	BOEHNK P M	1989	Am J Hum Genet1989，44，4：	1
6	Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase gene 显示文摘	Frosk P Weiler T Nylen E	2002	Am J Hum Genet2002，70，3：	1
7	Construction of a genetic linkage map in man using restriction fragment length polymorphisms 显示文摘	Botstein D White RL Skolnick M	1980	Am J Hum Genet1980，32，3：	1
8	Methods for high-density admixture mapping of disease genes 显示文摘	PATTERSON N HATrANGADI N LANE B	2004	Am J of Hum Genet2004，74，：	1
9	A large-scale genetic association study confirms IL 12B and leads to the identification of IL23R as psoriasis-risk genes显示文摘	Cargill M Schrodi S J Chang M	2007	Am J Hum Genet2007，80，2：	1
10	Construction of a genetic linkage map in man using restriction fragment length polymorphisms 显示文摘	Botstein D White R L Skolnick M	1980	Am J Hum Genet1980，32，：	1
11	Identification of uniparental disomy foiling prenatal detection of robertsonian translocations and isochromosomes显示文摘	Berend SA Horwitz J McCaskill C	2000	Am J Hum Genet2000，6，：	1
12	Examination of collagen genes in kindred with developmental dislocation of the hip 显示文摘	Lonkar A L Murphy K E	1999	Am J Hum Genet1999，65，：	1
13	Mutation rate in human micro satellites显示文摘	Henke J Henke L	1999	Am J Hum Genet1999，64，8：	1
14	A range of clinical phenotypes associated with mutations in CRX,a photoreceptor transcription-factor gene显示文摘	Sullivan L S Mintz-Hittner H A	1998	Am J Hum Genet1998，63，：	1
15	Genetic risks for children of woman with myotonic dystrophy显示文摘	Grimm T Harley HG	1991	Am J Hum Genet1991，48，：	1
16	Hypervariable sites in the mtDNA contral region are mutational hotspots显示文摘	Stoneking M	2000	Am J Hum Genet2000，67，4：	1
17	Construction of a genetic linkage map in man using restriction fragment length polymorphisms显示文摘	Botstein D White R L Skolnick M	1980	Am J Hum Genet1980，32，：	1
18	Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB 1) hearing loss显示文摘	Kelley PM Harris DJ Comer BC	1998	Am J Hum Genet1998，62，4：	1
19	Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60显示文摘	Hansen JJ Dǔrr A Corunu-Rebeix I	2002	Am J Hum Genet2002，70，5：	1
20	Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2mutations detected in case Series unselected for family history:A combined analysis of 22 studies显示文摘	Antoniou A Pharoah PD Narod S	2003	Am J Hum Genet2003，72，5：	1

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