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9803篇 您的检索式:期刊名="Genet Med"
    题名 作者 年代 出处 被引量
1Do genes influence exposure to trauma: A twin study of combat显示文摘Lyons M J Geldberg J Eisen S A 1993Am J Med Genet (Neuropsychiatric Genetic)1993,48,1:2
2Pancreatic adenocarcinoma: epidemiology and genetics 显示文摘FLANDERS TY FOULKES WD 1996J Med Genet1996,33,11:2
3A novel mutation of keratin 9 in epidermolytic palmoplantar keratoderma combined with knuckle pads显示文摘Lu Y Guo C Liu Q 2003Am J Med Genet2003,,3:2
4Prevalence of the fragile-X syndrome in mentally retarded boys in a Swedish county显示文摘Gustavson KH Blomquist HK Holmgren G 1986Am J Med Genet1986,23,12:2
5Rapid, high throughput prenatal detection ofaneuploidy using a novel quantitative method (MLPA) 显示文摘Slater H R Bruno D L Ren H at al 2003J Med Genet2003,40,12:1
6Prevalence of mitochondrial DNA mutations in childhood/congenital onset non - syndromal sensorineural hearing impaiment 显示文摘Hutchin TP Thompson KR Parker M 2001J Med Genet2001,38,:1
7Complex relationship between Parkin mutations and Parkinson' s disease 显示文摘West A Periquet M Lincoln S 2002Med Genet2002,114,5:1
8Molecular pathogenesis of Wilson and Menkes disease:correlation of mutations with molecular defects and disease phenotypes 显示文摘De Bie P Muller P Wijmenga C 2007J Med Genet2007,44,11:1
9Peutz-Jeghers families unlinked to STK11/LKB1 gene mutations are highly predisposed to primitive biliary adenocarcinoma显示文摘 Boisson C Thomas G 2001J Med Genet2001,38,6:1
10A novel NOG mutation Pro37Arg in a family with tarsal and carpal synostoses显示文摘 Fryns JP Devriendt K 2004Am J Med Genet A2004,128,:1
11The small patella syndrome:description of five cases from three families and examination of possible allelism with familial patella aplasia-hypoplasia and nail-patella syndrome显示文摘Bongers E M Van Bokhoven H Van Thienen M N 2001J Med Genet2001,38,3:1
12Total truncation of the molybdopterin/dimerization domains of SUOX protein in an Arab family with isolated sulfite oxidase deficiency显示文摘Seidahmed MZ Alyamani EA Rashed MS 2005Am J Med Genet A2005,136,2:1
13On the inheritance of primary spontaneous Pneunmothorax显示文摘Abolnik IZ Lossos Is zlotogora J 1991Am J Med Genet1991,40,:1
14Recessively In herited Multiple Epiphyseal Dysplasia with Normal Stature,Club Foot and Double Layered Patella Caused by a DTDSTMutation显示文摘Superti Furga A Neumann I Riebel T 1999J Med Genet1999,36,:1
15Omphalocele and gastros- chisis and associated malformations 显示文摘Stoll C Alembik Y Dott B 2008Am J Med Genet A2008,146,10:1
16The NAD(P)H: quinone oxidoreductase I C609T polymorphism modifies the risk of Barrett esophagus and esophageal adenocarcinoma显示文摘DI MARTINO E HARDIE L J WILD C P 2007Genet Med2007,9,6:1
17MDR1, the blood-brain barrier transporter, is associated with Parkinson's disease in ethnic Chinese 显示文摘LEE C G TANG K CHEUNG Y B 2004J Med Genet2004,41,5:1
18Autosomal domi nant erythromelalgia 显示文摘aFinley WH Lindsey JR Jr Fine JD 1992Am J Med Genet1992,42,3:1
19The relationship of 5HTT (SLC6A4)methylation and genotype on mRNA expression and liability to major depression and alcohol dependence in subjects from the Iowa Adoption Studies显示文摘Philibert R A Sandhu H Hollenbeck N 2008Am J Med Genet B Neuropsychiatr Genet2008,,:1
20Cytogenetic and molecular analysis in trisomy 12p显示文摘Allen TL Brothman AR Carey JC 1996Am J Med Genet1996,63,1:1
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