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122篇 您的检索式：期刊名="AMJ Hum Genet"

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	题名	作者	年代	出处	被引量
1	Codon 219 polymorphism of PRNP in healthy Caucasians and Creutzfeldt-Jakob disease patients 显示文摘	Petraroli R Pocchiari M	1996	AmJ Hum Genet1996，58，4：	1
2	Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia显示文摘	Pennarun G Escudier E Chapelin C	1999	AmJ Hum Genet1999，65，6：	1
3	Mutant desmocollin-2 causes arrhythmogenic right ventricular cardiomyopathy显示文摘	Heuser A Plovie ER Ellinor PT	2006	AmJ Hum Genet2006，79，6：	1
4	DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm显示文摘	Loges NT Olbrich H Fenske L	2008	AmJ Hum Genet2008，83，5：	1
5	Human microRNA- 155 on chromosome 21 differentially interacts with its polymorphic target in the AGTR1 3' untranslated region: a mechanism for functional single-nucleotide polymorphisms related to phenotypes显示文摘	Sethupathy P Borel C Gagnebin M	2007	AmJ Hum Genet2007，81，2：	1
6	Hermansky - Pudlak syndrome type 3 in Ashkenazi Jews and other non- Puerto Rican patients with hypopigmentation and platelet storage - pool deficiency显示文摘	Huizing M Anikster Y Fitzpatrick DL	2001	AmJ Hum Genet2001，69，：	1
7	Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations 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	AmJ Hum Genet2003，72，5：	1
8	Distribution of β-thalassemiamutations in South China and theirassociation with haplotypes显示文摘	Chan V Chan TK Chebab FF	1987	AmJ Hum Genet1987，41，4：	1
9	Comprehensive mutation analysis of TSC1 and TSC2 and phenotypie correlations in 150 families with tuberous sclerosis显示文摘	Jones AC Shyamsundar MM Thomas MW	1999	AmJ Hum Genet1999，，：	1
10	A comprehensive survey of human Y-chromosomal mierosatel\|ites显示文摘	Kayser M Kittler R Erler A	2004	AmJ Hum Genet2004，74，6：	1
11	Localization of a novel locus for autosomal recessive early-onset parkinsonism, PARK6, on human chromosome 1p35-p36显示文摘	Valente EM Bentivoglio AR Dixon PH	2001	AmJ Hum Genet2001，68，4：	1
12	A murine model for human sepiapterin-reductase deficiency显示文摘	Yang S Lee YJ Kim JM	2006	AmJ Hum Genet2006，78，4：	1
13	Study of a single BRCA2 mutation with high carrier frequency in a small popula- tion显示文摘	Thorlaeius S Sigurdson S Bjanadottir H	1997	AmJ Hum Genet1997，60，5：	1
14	Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities显示文摘	Vissers LE De Vries BB Osoegawa K	2003	AmJ Hum Genet2003，73，6：	1
15	Identification of the trscriptional unit,structural organization and promotor sequence of the human sexdetermining region Y (SRY) gene using reverse genetic approach显示文摘	HuaSu Chris Lau YF	1993	AMJ Hum Genet1993，52，132：	1
16	Bladder cancer predisposition: a muhigenic approach to DNA - repair and cell - cycle - control genes 显示文摘	Wu X Gu J Grossman HB	2006	AmJ Hum Genet2006，78，3：	1
17	Rapid clearance of fetal DNA from maternal plasma显示文摘	Lo YM Zhang J Leung TN	1999	AmJ Hum Genet1999，64，1：	1
18	Determination of the genomic structure of the COIAA4 gene and of novel muta- tions causing autosomal recessive Alport syndrome 显示文摘	Boye E Mollet G Forestier L	1998	AmJ Hum Genet1998，63，5：	1
19	Malic enzyme 2 may un?derlie susceptibility to adolescent-onset idiopathic generalized epilep?sy显示文摘	Greenberg DA Cayanis E Strug L	2005	AmJ Hum Genet2005，76，1：	1
20	Genome scan for Tourette disorder in affected-sibling-pair and multigenerational families显示文摘	Tourette Syndrome Association International Consortium for Ge?netics	2007	AmJ Hum Genet2007，80，2：	1

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