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117篇 您的检索式:期刊名="Hum MolGenet"
    题名 作者 年代 出处 被引量
1A novel mutation withinthe miR 96 gene causes non-syndromic inherited hearing loss in anItalian family by altering pre-miRNA processing 显示文摘Solda G Hobusto M Primignani P 2012Hum MolGenet2012,21,3:1
2The role of N-acetylglucosaminyltransferase III and V in the post-tran-scriptional modifications of E-cadherin 显示文摘Pinho SS Reis CA Paredes J 2009Hum MolGenet2009,18,14:1
3Single base polymorphism in the human tumour necrosis factor alpha (TNF alpha)gene detectable by Ncol restriction of PCR product显示文摘Wilson AG di Giovine FS Blakemore AI 1992Hum MolGenet1992,1,5:1
4Exosomes and microvesicles: extracellular vesicles for genetic information transfer and gene tberapy显示文摘Lee Y El Andaloussi S Wood MJ 2012Hum MolGenet2012,21,1:1
5ApoE isoform- specific regulation of regeneration in the peripheral nervous system显示文摘Comley LH Fuller HR Wishart TM 2011Hum MolGenet2011,20,12:1
6A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24显示文摘de Mollerat XJ 2003Hum MolGenet2003,12,:1
7Fine mapping of t he association with obesity a t the F TO lo cus in A frican-derived po pulations显示文摘Hassanein M T Lyon H N Nguyen T T :j: 2010Hum MolGenet2010,19,14:1
8Genetic dissection of myocilin glaucoma 显示文摘Gong G Kosoko-Lasaki 2004Hum MolGenet2004,13,1:1
9The Rb/E2F pathway and cancer显示文摘NEVIANS J R 2001Hum MolGenet2001,10,:1
10Comprehensive genetic analysis of the platelet activa- ting {actor acetylhydrolase (PLA2GT) gene and cardi- ovascular disease in case-control and family datasets显示文摘SUTTON B S CROSSLIN D R SHAH S H 2008Hum MolGenet2008,17,:1
11Trehalose reducesaggregate formation and delays pathology in a transgenic mousemodel of oculopharyngeal muscular dystrophy 显示文摘Davies JE Sarkar S Rubinsztein DC 2006Hum MolGenet2006,15,1:1
12Linkage of a new locus for autosomal dominant familial spastic paraplegia to chromosome2p显示文摘 Fontaine B Bruyn RP 1994Hum MolGenet1994,3,:1
13Somatic mosaieism in patients with Angelman syndrome and an imprintingdefect显示文摘Nazlican H Zesehnigk M Claussen U 2004Hum MolGenet2004,13,:1
14A set of differentially expressed miRNAs, including miR-30a-5p, act as posttranscriptional inhibitors of BDNF in prefrontal cortex显示文摘MELLIOS N HUANG H S GRIGORENKO A etal 2008Hum MolGenet2008,17,19:1
15Synergy between the genes for butyrylcholinesterase K variant and apolipoprotein E4 in late-onset comtirmed Alzheimer's disease显示文摘 Johnston C Smith AD 1997Hum Molgenet1997,6,:1
16Genome-wide associationof serum bilirubin levels in Korean population显示文摘Kang T W Kim H J Ju H 2010Hum MolGenet2010,19,18:1
17Effect of endogenous mutant and wildtype PINK1 on Parkin in fibroblasts from Parkinson disease patients 显示文摘Rakovic A Grtinewald A Seibler P 2010Hum MolGenet2010,19,16:1
18Familial adenomatous pol-yposis:desmoid tumors and lack of ophthalmic lesions(CHRPE)associated with APC mutations beyond codon 1444显示文摘Capari R Olschwang S Friedl W 1995Hum MolGenet1995,4,3:1
19Mitochondrial dynamics-fusion, fission, move-ment ,and mitophagy in neurodegenerative diseases显示文摘Chen H Chan DC 2009Hum MolGenet2009,,2:1
20Genetic and biophysical basis of sudden unexplained nocturnal death syndrome (SUNDS), a disease allelic to Brugada syndrome 显示文摘VATTA M DUMAINE R VARGHESE G 2002Hum MolGenet2002,11,3:1
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