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61篇 您的检索式:期刊名="Hun Genet"
    题名 作者 年代 出处 被引量
1Matemal aging and chromosomal abnormalities:New data drawn from in vitro unfertilized human oocytes显示文摘Pellestor F Anrdreo B Amal F 2003Hun Genet2003,112,2:1
2Surfactant proteins A and Bas interactive genetic determinants of neonatal respiratory distresssyndrome显示文摘Haataja R Ramet M Marttila R 2000Hun Mol Genet2000,9,18:1
3ALOX5AP gene variants and risk of coronary artery disease: an angiography- based study显示文摘Girelli D Maxtinelli N Trabetti E 2007Eur J Hun Genet2007,15,9:1
4Diagnosis of Down syndrome and other aneuploidies using quantitative polymerase chain reaction and small tandem repeat polymorphisms显示文摘Mansfield ES 1993Hun Mol Genet1993,2,:1
5'Surfactant protein C gene variation in the Finnish population-association with perinatal respiratory dis- ease显示文摘Lahti M Marttila R Hallman M 2004Europen J Hun Genet2004,12,4:1
6Type 2 diabetes and three calpain 10 gene polymorphisms in Samoans:110 evidence of association显示文摘Tsai HJ Sun G Weeks DE 2001Am J Hun Genet2001,69,3:1
7Rapid detection of chromosome aneuploidies in unculture amniocytes by using fluoresscence in situ hybridization (FISH)显示文摘Klinger K Langes G Shook D 1992Am J Hun Genet1992,51,1:1
8Genetic polymorphism of RhD negative as sociated haplotypes in the Chinese 显示文摘LAN J C CHEN Q WU D L 2000J Hun Genet2000,45,4:1
9Paired boxmutations in familial and sporadic aniridia predicts truncated aniridia proteins显示文摘Martha A Ferrell RE Minta-Hittner H Lyons LA Saunders GF 1994Am J Hun Genet1994,54,5:1
10Detection of 98% of DMD/BMD gene deletion bypolymerase chain reaction显示文摘Beggs A H Koenig M Boyce FM 1990Hun Genet1990,86,:1
11Another case of imprinting defect in a girl with Angelman syndrome who was conceived by intracytoplasmic semen injection显示文摘rstavik KH Eiklid K van der Hagen CB 2003Am J Hun Genet2003,72,1:1
12Oocyte selection: a new model for the maternal - age dependence of Down syndrome 显示文摘Zheng CJ Byers B 1992Hun Genet1992,90,12:1
13A second common mutation in the methylenetetrahydrofolate reductase gene:an additional risk factor for neural-tube defeets?显示文摘VAN DER PUT N M GABREELS F STEVENS E M 1998Am J Hun Genet1998,62,5:1
14Mutations in the small GTPase gene RAB39B are responsible for X - linked mental retardation as- sociated with antism,epilepsy,and macrocephaly 显示文摘Giannandrea M Bianchi V Mignogna ML 2010Am J Hun Genet2010,86,2:1
15Construction of a Genetic Linkage Map in Man using Restriction Fragment Length Polymorphisms 显示文摘Botstein D White R L Skolnick M 1980Am J Hun Genet1980,32,:1
16Individual-specific liability groups in genetic linkage, with applications to Kindrens with Li-Fraumeni syndrome显示文摘Shete S Amos CI Hwang SJ 2002Am J Hun Genet2002,70,:1
17DNApolymorphismin two paraoxonase genes (PON1 and PON2 ) are associated with the risk of coro ary heart disease显示文摘Sanghera DK Aston CE Saha N 1998Am J Hun Genet1998,62,1:1
18A novel mutation within the MIP96 gene causts non-syndronic in- herited hearing loss in an Italian family by altering pre- miRNA processing显示文摘SOLDA G ROBUSTO M PRIMIGNANI P 2012Hun Mol Genet2012,21,3:1
19Common and unique sus- ceptibility loci in Graves' and Hashimoto's disease: results of whole-genome screening in a data set of 102 multiplex families 显示文摘Tomer Y Ban Y Concepcion G 2003Am J Hun Genet2003,73,4:1
20Functional polymorphism in the promoter region of the gelatinase B gene in relation to coronary artery disease and restenosis after percutaneous coronary intervention 显示文摘Cho HJ Chae IH Park KW 2002J Hun Genet2002,47,2:1
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