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44篇 您的检索式：期刊名="HumMol Genet"

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	题名	作者	年代	出处	被引量
1	Analysis of cerebellar function inUbe3a-deficient mice reveals novel genotype-specific behaviors显示文摘	HECK D H ZHAO Y ROY S	2008	HumMol Genet2008，17，14：	1
2	Hydrolethalus syndrome iscaused by a missense mutation in a novel gene HYLS1 显示文摘	Mee L Honkala H Kopra 0	2005	HumMol Genet2005，14，11：	1
3	Calciun-sens- ing receptor dimerizes in the endoplasmic reticulum:biochemical and biophysical characterization of CASR mutents retained in tracellulary 显示文摘	Pidasheva S Grant M Canaff L	2006	HumMol Genet2006，15，14：	1
4	EGFR regulates RhoAGTP dependent cell motility in E-cadherin mutant cells显示文摘	Mateus AR Seruca R Machado JC	2007	HumMol Genet2007，16，13：	1
5	Copper - dependent trafficking of Wilson disease mutant ATPTB proteins 显示文摘	Forbes JR Cox DW	2000	HumMol Genet2000，9，13：	1
6	Single-nucleotide polymorphism haplotypes in the both proximal pro-moter and exon 3 of the APMlgene modulate adipocyte-secreted adiponectin hormone levels and contribute to the genetic risk for type 2 diabetes in French Caucasians 显示文摘	Vasseur F Helbecque N Dina C	2002	Hummol Genet2002，11，21：	1
7	Elevated amy-loid beta protein(Abeta42)and late onset Alzheimer's dis-ease are associated with single nucleotide polymer-phisms inthe urokinase-type plasminogen activator gene显示文摘	Ertekin-Taner N Ronald J Feuk L	2005	HumMol Genet2005，14，3：	1
8	Supemvulation alters the expression of imprinted genes in the mid gestation mouse placenta 显示文摘	FORTIER A L LOPES F L DARRICARRERE N	2008	HumMol Genet2008，17，11：	1
9	GABRD encoding a protein for extra-orperi-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies显示文摘	Dibbens LM Feng HJ Richards MC	2004	HumMol Genet2004，13，：	1
10	Structural variants:changingthe landscape of chromosomes and design of disease studies显示文摘	Feuk L Marshall CR Wintle RF	2006	HumMol Genet2006，15，1：	1
11	SHOX in- teracts with the chondrogenic transcription factors SOX5 and SOX6 to activate the aggreean enhancer显示文摘	Aza-Carmona M Shears D J Yuste-Checa P	2011	HumMol Genet2011，20，8：	1
12	Arisk haplotype of STAT4 for systemic lupus erythematosusis over-expressed,correlates with anti-dsDNA and showsadditive effects with two risk alleles of IRF5 显示文摘	SIGURDSSON S NORDMARK G GARNIER S	2008	HumMol Genet2008，17，18：	1
13	The impact of metabolism on DNA methylati on 显示文摘	Ulrey CL Liu L AndrewsLG	2005	HumMol Genet2005，，：	1
14	Broad activation of the ubiq-uitin-proteasome system by Parkin is critical for mitophagy显示文摘	Chan NC Salazar AM Pham AH	2011	HumMol Genet2011，20，9：	1
15	Estimation of thegenetic contribution of presenilin-1 and -2 mutations in apopulation-based study of presenile Alzheimer disease 显示文摘	Cruts M van Duijn CM Backhovens H	1998	HumMol Genet1998，7，1：	1
16	Forty years of decoding the silence in X-chromosome inactivation显示文摘	BOUMIL R M LEE J T	2001	HumMol Genet2001，10，20：	1
17	Atopy,respiratoryfunction and HLA-DR in aboriginal Australian显示文摘	Mofatt MF Faux JA Lester S	2003	HumMol Genet2003，12，6：	1
18	Dissection of the genetics of Parkinson's disease identifies an additional association 5' of SNCA and multiple associated haplotypes at 17q21 显示文摘	Spencer CC Plagnol V Strange A	2011	HumMol Genet2011，20，2：	1
19	A common functional polymorphism (c →a substitution at position 2863) in the promoter region of the tumour necrosis factor-alpha (tnf-alpha) gene associated with reduced circulating levels of tnf-alpha显示文摘	Skoog T van' t Hooft F M Kallin B	1999	HumMol Genet1999，8，8：	1
20	Dysfunctions in en-dosomal-lysosomal and autophagy pathways underlie neu-ropathology in a mouse model for Lafora disease显示文摘	Puri R Suzuki T? Yamakawa K	2012	HumMol Genet2012，21，1：	1

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