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18篇 您的检索式:期刊名="J Hum Genel"
    题名 作者 年代 出处 被引量
1Association of the insulin-receptor variant Met-985 with hyperglycemia and non-insulin-dependent diabetes mellitus in the Netherlands: a population-based study显示文摘HART LM STOLK RP HEINE RJ 1996AM J Hum Genel1996,59,5:1
2Calalog of 238 variations among six human genes encoding solute carriers (hSI,Cs) in the Japanese populalion显示文摘Saito S lida A Sekine A 2002J Hum Genel2002,47,11:1
3Linkage of autosomal recessive lamellar ichthyosis to chromosome 14q 显示文摘Russell LJ DiGiovanna JJ Hashern N 1994Am J Hum Genel1994,55,6:1
4Proteam PTEN: form and function显示文摘Waite KA Eng C 2002Am J Hum Genel2002,70,:1
5DNA typing and genetic mapping with trimeric and tetrameric tanders repeats显示文摘Edwards A Civitello A Hammond HA 1991Am J Hum Genel1991,49,4:1
6The human serum paraoxonase polymorphism:dentification of phenotypes by the response to salts显示文摘Echerson HW 1983Am J Hum Genel1983,35,:1
7Familial infantile convulsion and paroxysmal choreothromeric region of human chrosome 16显示文摘Szepetowski P Rochette J Berqium P 1997Am J Hum Genel1997,61,:1
8A new locus for autosomal dominant dilated cardiomyopathy identified on chromosome 6q12-q16 显示文摘Sylvius N Tesson F Gayet C 2001Am J Hum Genel2001,68,:1
9CD40 ligand gene and Kawasaki disease显示文摘 Onoue S Tamari M et d 2004Eur J Hum Genel2004,12,12:1
10Human type Ⅶ collagen:genetic linkage of the gene(COL7A1) on chromosome 3 to dominant dystrophic epidermolysis bullosa显示文摘Ryynanen M Knowlton RG Parente MG 1991Am J Hum Genel1991,49,4:1
11Variation in short tandem repeats is deeply structured by genetic background on the human Y chromosome显示文摘Bosch E Calafell F Sancos FR 1999Am J Hum Genel1999,65,:1
12Genetic linkage of autosmal-dominanl Alport syndrome with leukocyte inclusions and macrot hrombocytopenia(Fechtner syndrome) to chromosome 22q11-13显示文摘TOREN A AMARIGLIO N ROZENFELD-GRANOT G 1999Am J Hum Genel1999,65,6:1
13Mutations in the COCH gene are a frequent cause of autosomal dominant progressive cochleovestibular dysfunction,but not of Meniere's disease显示文摘Usami S Takahashi K Yugo I 2003Eur J Hum Genel2003,11,10:1
14Absence of COCH mutations in patients with Meniere disease显示文摘Sanchez E López-esc(a)mez JA López-nevot MA 2004Eur J Hum Genel2004,12,1:1
15Familial resemblance of plasma angiotensin-converting level: The Nancy study显示文摘Cambien F Alherc G F Herbersth B 1998Am J Hum Genel1998,43,5:1
16Identification of a novel non-coding RNA, MI- AT, that conters risk of myocardial infarction 显示文摘Ishii N Ozaki K Sato H 2006J Hum Genel2006,51,12:1
17Mutations of the RNA-specific adenosine deaminase gene(DSRAD)are involved in dyschromatosis synunetrica hereditaria显示文摘Miyamura Y Suzuki T Kono M 2003Am J Hum Genel2003,73,3:1
18Heritability of bone mass:a longitudinal study in aging male twins显示文摘Christian J C C Slemenda C C Johnston 1989Am J Hum Genel1989,44,:1
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