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14篇 您的检索式:期刊名="Hum MoI Genet"
    题名 作者 年代 出处 被引量
1Mutations in the N-terminus of the X-linked retinitis pigmentosa protein RP2 interfere with the normal targeting of the protein to the plasma membrane显示文摘CHAPPLE J P HARDCASTH a J GRAYSON C 2000Hum MoI Genet2000,9,13:1
2Gene-specific timing and epigcnetic memory in oecyte imprinting显示文摘 Mann MR Bartolomei MS 2004Hum Moi Genet2004,13,8:1
3NLRP7 mutations in women with diploid androgenetic and triploid moles:a proposed mechanism for mole formation显示文摘Deveauh C Qian JH Chebaro W 2009Hum Moi Genet2009,18,5:1
4Using genome-wide complextrait analysis to quantify ‘ missing heritability ’ in Parkinson's disease显示文摘Keller ME Saad M Bras J 2012Hum Moi Genet2012,21,22:1
5Single base polymorphism at IL-1B (-511) in the human interleukin-1 beta gene显示文摘di Giovine FS Takhsh E Blakemore AIF 1992Hum MoI Genet1992,1,:1
6Dinucleotide repeat Polymorphismin the human estrogen(ESR) gene 显示文摘Del Senno L Aguiari GL Piva R 1992J Hum MoI Genet1992,1,:1
7Mutations in the LRRK2 ROC-COR tandem domain link Parkinson′s disease to Wnt signaling pathway显示文摘Sanch RM Law BM Harvey K 2009Hum Moi Genet2009,18,20:1
8Mutant huntingtin causes defective aetin remodeling during stress: defining a new role {or transglutaminase 2 in neurodegenerative disease显示文摘Munsie L Caron N Atwal RS 2011Hum MoI Genet2011,20,10:1
9Mutation alanalysis of the GPC3/GPC4 glypican gene cluster on Xq26 inpatients with Simpson-Golabi-Behmel gyndrome: identification of loss-offunction mutations in the GPC3 gene显示文摘Veugelers M Cat BD Muyldermans SY 2000Hum Moi Genet2000,9,13:1
10Loss of imprinting of IGF2 and H19 in osteosarcoma is accompanied by reciprocai methyiation changes of a CTCF-binding site显示文摘Uianer G A Vu T H Li T 2003Hum Moi Genet2003,12,5:1
11Maternally inherited hearing loss,ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNASer (UCN) gene 显示文摘Tiranti V Chariot P Carella F 1995Hum Moi Genet1995,17,8:1
12Using genome-wide complex trait analysis to quantify missing heritability in Parkinsons disease显示文摘keller ME Saad M Bras J 2012Hum Moi Genet2012,21,22:1
13A genome-wide scan for coronary heart diseasesuggests in Indo-Mauritians a susceptibility locus onchromosome 16pl3 and replicates linkage with themetabolic syndrome on 3q27显示文摘FRANCKE S MANRAJ M LACQUEMANT C etal 2001Hum Moi Genet2001,10,:1
14Targeted disruption of mouse Pds provides insight about the inner-ear defects encountered in Pendred syndrome显示文摘Everett LA Belyantseva IA Noben TK 2001Hum Moi Genet2001,10,2:1
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