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42篇 您的检索式:期刊名="HumMolGenet"
    题名 作者 年代 出处 被引量
1DNA methylation and gene expression differences in children conceived in vitro or in vivo 显示文摘Katari S Turan N Bibikova M 2009HumMolGenet2009,18,20:1
2Myosin VI is required for the proper maturation and function of inner hair cell ribbon synapses显示文摘Roux I Hosie S Johnson SL 2009HumMolGenet2009,18,23:1
3Genetic control of the circulating concentration of transforming growth factor type hetal显示文摘Grainger D J Heathcote K Chiano M 1999HumMolGenet1999,8,1:1
4Localization of a gene for oculodentodigltal syndrome to human chromosome 6q22-q24 显示文摘Gladwin A Donnai D Metcalfe K 1997HumMolGenet1997,6,1:1
5Disease-causing mutations within the lysosomal integral membrane protein type 2 (LIMP-2) reveal the nature of binding to its ligand beta-glucocerebrosidase 显示文摘Blanz J Groth J Zachos C 2010HumMolGenet2010,19,56:1
6Single nucleotide polymorphism associated with mature miR-125a alters the processing of pri- miRNA显示文摘Duan R Pak CH Jin P 2007HumMolGenet2007,16,9:1
7The R345W mutation in EFEMPI is pathogenic and causes AMID-like deposits in mice 显示文摘Fu L Garland D Yang Z 2007HumMolGenet2007,16,20:1
8Genetic linkage of the tricho-dento-osseous syndrome to chromosome 17q21 显示文摘Hart TC Bowden DW Bolyard J 1997HumMolGenet1997,6,13:1
9Amniocytes can serve a dual function as a source of iPS cells and feeder layers显示文摘Anchan R M Quaas P Gerami-Naini B 2011HumMolGenet2011,20,5:1
10Somatic mutations of thq APC gene in colorectal tumors: mutation cluster region in the APC gene显示文摘Miyoshi Y Nagase I-I Ando H 1992HumMolGenet1992,1,:1
11Localization of the gene for congenital dyserythropoietic anemia type Ⅲ,CDAN3,to chromosome 15q21-q25显示文摘Lind L Sandstrom H Wahlin A 1995HumMolGenet1995,4,1:1
12Combined effects of three independent SNPs greatly increase the risk estimate forRAat6q23 显示文摘Orozco G Hinks A Eyre S 2009HumMolGenet2009,18,14:1
13Compound heterozygosity for mutations in LMNA causes a progeria syndrome without prelamin A accumulation 显示文摘Verstraeten VL Broers JL van Steensel MA 2006HumMolGenet2006,15,16:1
14Genetic linkage studies in non-epidermolytic palmoplantarkeratoderma: evidence forheteroge neity显示文摘Kelsell D P Stevens H P Ratnavel R 1995HumMolGenet1995,,4:1
15Therapeutic benefit of lentiviral-mediated neonatal intracerebral gene therapy in a mouse model of globoid cell leukodystrophy 显示文摘Lattanzi A Salvagno C Maderna C 2014HumMolGenet2014,28,1:1
16Pharmacogenetics/genomics and personalized medicine显示文摘Sadfie W Dai Z 2005HumMolGenet2005,14,2:1
17IdentificationofthreedifferenttruncatingmutationsincytochromeP4501B1(cyp1B1)astheprincipalcauseofprimarycongenitalglaucoma(buphthalmos)infamilieslinkedtotheGLC3Alocusonchromosome2p21显示文摘7,StoilovI AkarsuAN SarfaraziM 1997HumMolGenet1997,6,:1
18The mutational spectrum of human malignant autosomal recessive osteopetrosis 显示文摘Sobacchi C Frattini A Orchard P 2001HumMolGenet2001,10,17:1
19The product of an oculo- pharyngealmuscular dystrophy gene, poly (A) 2-inding p rotein2, interacts with SKIP and stimulates muscle specific gene expression 显示文摘Kim Y J Noguchi S Hayashi YK 2001HumMolGenet2001,10,:1
20A genome-wide association study of acencoumarol maintenance dos- age显示文摘TEICHERT M EIJGELSHEIM M RIYADENEIRA F 2009HumMolGenet2009,18,19:1
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