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17篇 您的检索式：期刊名="Hum Geuet"

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		题名	作者	年代	出处	被引量
	1	Linkage analysis of leftventricular outflow tract malformations( aortic valve stenosis, coarctation of the aorta, and hypoplastic left heart syndrome) 显示文摘	Mcbride KL Zender GA Fitzgerald-Butt SM	2009	Eur J Hum Geuet2009，17，6：	1
	2	Muttional analysis of SRY nonsense and missense mutation in XY sex reversal显示文摘	Hawkins JR Taylor	1992	Hum Geuet1992，88，：	1
	3	Familial primary pulmonary hypertension (gene PPH1 ) is caused by mutations in the bone morphogenetic protein receptor-II gene 显示文摘	Deng Z Morse JH Slager SL	2000	Am J Hum Geuet2000，67，3：	1
	4	Genetic and environmental architecture of the features of the insulin-resistance syndrome 显示文摘	Hong Y Pedersen NL Brismar K	1997	Am J Hum Geuet1997，60，1：	1
	5	Insight into Rett syndrome:MeCP2 levels display tissue-and cell-specific differences and correlate with neuronal maturation显示文摘	Shahbazian MD Antalffy B Armstrong DL	2002	Hum Mol Geuet2002，11，2：	1
	6	Rapid and efficient resolution of parentage by amplication of short tandem repeats显示文摘	Alford RL Hammond HA Coto I	1994	Am J Hum Geuet1994，55，1：	1
	7	Molecu\|ar path(:genesis of Wilson disease: haplotype analysis, detection of prevalent mutations and genotype-phenotype correlation in Indian patients 显示文摘	Gupta A AiKath D Neogi R	2005	Hum Geuet2005，118，1：	1
	8	Homozygous WNT3 mutation causes tetra-amelia in a large consanguineous family 显示文摘	Niemann S Zhao C Pascu F	2004	Hum Geuet2004，74，：	1
	9	Mendelian Inheritance in Man and its online ver- sion, OMIM显示文摘	McKusick VA	2007	Am J Hum Geuet2007，80，4：	1
	10	The roles of genetic and environmental factors on risk of cervical cancer: a review of classical twin studies 显示文摘	Moore EE Wark JD Hopper JL	2012	Twin Res Hum Geuet2012，15，1：	1
	11	Epigenetics of autism spectrum disorders 显示文摘	Schanen NC	2006	Hum Mol Geuet2006，15，2：	1
	12	De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP显示文摘	Veeramah KR O'Brien JE Meisler MH	2012	Am J Hum Geuet2012，90，3：	1
	13	A set of miRNAs that involve in the pathways of drug sistance and leukemic stem-cell differentiation is associated with the risk of relapse and glucocmtieoid response in childhood ALL显示文摘	Han BW Feng DD Li ZG	2011	Hum Mol Geuet2011，20，24：	1
	14	Germline mutation of INI1/SMARCB1 in familial schwannomatosis显示文摘	Hulsebos T J Plomp A S Woherman R A	2007	Am J Hum Geuet2007，80，4：	1
	15	A1166C variant of angiotensin Ⅱtype 1 receptor gene is associated with severe hypertension in pregnancy independently of T235 variant of angiotensinogen gene显示文摘	Hata A Ohta K	2004	J Hum Geuet2004，9，4：	1
	16	A mutation in the LDL receptor-related protein 5 gene results in the autosomal domiilant high-hone-mass trait 显示文摘	Little RD Carulli JP Del Mastro RG	2002	Am J Hum Geuet2002，70，1：	1
	17	Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations显示文摘	Usami S Abe S Weston MD	1999	Hum Geuet1999，104，2：	1

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