| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Adverse events in families with hypertrophic or dilated cardiomyopathy and mutations in the MYBPC3 gene
|
Ehlermann, Philipp
|
|
2008
|
9 |
1 |
|
artikel
|
| 2 |
A luteinizing hormone receptor intronic variant is significantly associated with decreased risk of Alzheimer's disease in males carrying an apolipoprotein E ε4 allele
|
Haasl, Ryan J
|
|
2008
|
9 |
1 |
|
artikel
|
| 3 |
Analysis of variants in DNA damage signalling genes in bladder cancer
|
Choudhury, Ananya
|
|
2008
|
9 |
1 |
|
artikel
|
| 4 |
Analytical approaches to detect maternal/fetal genotype incompatibilities that increase risk of pre-eclampsia
|
Parimi, Neeta
|
|
2008
|
9 |
1 |
|
artikel
|
| 5 |
A new 500 kb haplotype associated with high CD8+ T-lymphocyte numbers predicts a less severe expression of hereditary hemochromatosis
|
Cruz, Eugénia
|
|
2008
|
9 |
1 |
|
artikel
|
| 6 |
An intronic alteration of the fibroblast growth factor 10 gene causing ALSG-(aplasia of lacrimal and salivary glands) syndrome
|
Scheckenbach, Kathrin
|
|
2008
|
9 |
1 |
|
artikel
|
| 7 |
A novel c.5308_5311delGAGA mutation in Senataxin in a Cypriot family with an autosomal recessive cerebellar ataxia
|
Nicolaou, Paschalis
|
|
2008
|
9 |
1 |
|
artikel
|
| 8 |
A novel de novo mutation in the serine-threonine kinase STK11 gene in a Korean patient with Peutz-Jeghers syndrome
|
Yoo, Jong-Ha
|
|
2008
|
9 |
1 |
|
artikel
|
| 9 |
A novel HSF4 gene mutation (p.R405X) causing autosomal recessive congenital cataracts in a large consanguineous family from Pakistan
|
Sajjad, Naheed
|
|
2008
|
9 |
1 |
|
artikel
|
| 10 |
A novel insertion mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene underlies Grebe-type chondrodysplasia in a consanguineous Pakistani family
|
Basit, Sulman
|
|
2008
|
9 |
1 |
|
artikel
|
| 11 |
A novel WFS1 mutation in a family with dominant low frequency sensorineural hearing loss with normal VEMP and EcochG findings
|
Bramhall, Naomi F
|
|
2008
|
9 |
1 |
|
artikel
|
| 12 |
Array based characterization of a terminal deletion involving chromosome subband 15q26.2: an emerging syndrome associated with growth retardation, cardiac defects and developmental delay
|
Davidsson, Josef
|
|
2008
|
9 |
1 |
|
artikel
|
| 13 |
Array-CGH in patients with Kabuki-like phenotype: Identification of two patients with complex rearrangements including 2q37 deletions and no other recurrent aberration
|
Cuscó, Ivon
|
|
2008
|
9 |
1 |
|
artikel
|
| 14 |
Aryl hydrocarbon receptor nuclear translocator (ARNT) gene as a positional and functional candidate for type 2 diabetes and prediabetic intermediate traits: Mutation detection, case-control studies, and gene expression analysis
|
Das, Swapan K
|
|
2008
|
9 |
1 |
|
artikel
|
| 15 |
Assessment of the feasibility of exon 45–55 multiexon skipping for duchenne muscular dystrophy
|
van Vliet, Laura
|
|
2008
|
9 |
1 |
|
artikel
|
| 16 |
Association analyses of the interaction between the ADSS and ATM genes with schizophrenia in a Chinese population
|
Zhang, Fuquan
|
|
2008
|
9 |
1 |
|
artikel
|
| 17 |
Association between LRP5 polymorphism and bone mineral density: a Bayesian meta-analysis
|
Tran, Bich NH
|
|
2008
|
9 |
1 |
|
artikel
|
| 18 |
Association between Ngb polymorphisms and ischemic stroke in the Southern Chinese Han population
|
Lin, Yi
|
|
2008
|
9 |
1 |
|
artikel
|
| 19 |
Association between promoter -1607 polymorphism of MMP1 and Lumbar Disc Disease in Southern Chinese
|
Song, You-Qiang
|
|
2008
|
9 |
1 |
|
artikel
|
| 20 |
Association between single nucleotide polymorphisms in the mu opioid receptor gene (OPRM1) and self-reported responses to alcohol in American Indians
|
Ehlers, Cindy L
|
|
2008
|
9 |
1 |
|
artikel
|
| 21 |
Association between variations in the TLR4 gene and incident type 2 diabetes is modified by the ratio of total cholesterol to HDL-cholesterol
|
Kolz, Melanie
|
|
2008
|
9 |
1 |
|
artikel
|
| 22 |
Association of ADAM33 gene polymorphisms with adult allergic asthma and rhinitis in a Chinese Han population
|
Su, Dongju
|
|
2008
|
9 |
1 |
|
artikel
|
| 23 |
Association of limbic system-associated membrane protein (LSAMP) to male completed suicide
|
Must, Anne
|
|
2008
|
9 |
1 |
|
artikel
|
| 24 |
Association of narcolepsy-cataplexy with HLA-DRB1 and DQB1 in Mexican patients: A relationship between HLA and gender is suggested
|
Alaez, Carmen
|
|
2008
|
9 |
1 |
|
artikel
|
| 25 |
Association of the 894G>T polymorphism in the endothelial nitric oxide synthase gene with risk of acute myocardial infarction
|
Andrikopoulos, George K
|
|
2008
|
9 |
1 |
|
artikel
|
| 26 |
Autosomal dominant hereditary spastic paraplegia: Novel mutations in the REEP1 gene (SPG31)
|
Schlang, Katharina J
|
|
2008
|
9 |
1 |
|
artikel
|
| 27 |
Birth weight and blood lipid levels in Spanish adolescents: Influence of selected APOE, APOC3 and PPARgamma2 gene polymorphisms. The AVENA Study
|
Ruiz, Jonatan R
|
|
2008
|
9 |
1 |
|
artikel
|
| 28 |
Broad phenotypic spectrum in familial adenomatous polyposis; from early onset and severe phenotypes to late onset of attenuated polyposis with the first manifestation at age 72
|
Nilbert, Mef
|
|
2008
|
9 |
1 |
|
artikel
|
| 29 |
Cathepsin D SNP associated with increased risk of variant Creutzfeldt-Jakob disease
|
Bishop, Matthew T
|
|
2008
|
9 |
1 |
|
artikel
|
| 30 |
C4B null alleles are not associated with genetic polymorphisms in the adjacent gene CYP21A2 in autism
|
Sweeten, Thayne L
|
|
2008
|
9 |
1 |
|
artikel
|
| 31 |
Characterization of novel isoforms and evaluation of SNF2L/SMARCA1 as a candidate gene for X-linked mental retardation in 12 families linked to Xq25-26
|
Lazzaro, Maribeth A
|
|
2008
|
9 |
1 |
|
artikel
|
| 32 |
Common variants of the TCF7L2 gene are associated with increased risk of type 2 diabetes mellitus in a UK-resident South Asian population
|
Rees, Simon D
|
|
2008
|
9 |
1 |
|
artikel
|
| 33 |
Complex aetiology of an apparently Mendelian form of Mental Retardation
|
Beleza-Meireles, Ana
|
|
2008
|
9 |
1 |
|
artikel
|
| 34 |
Design considerations in a sib-pair study of linkage for susceptibility loci in cancer
|
Kerber, Richard A
|
|
2008
|
9 |
1 |
|
artikel
|
| 35 |
Detection of Catalase as a major protein target of the lipid peroxidation product 4-HNE and the lack of its genetic association as a risk factor in SLE
|
D'souza, Anil
|
|
2008
|
9 |
1 |
|
artikel
|
| 36 |
Diabetes-specific genetic effects on obesity traits in American Indian populations: the Strong Heart Family Study
|
Franceschini, Nora
|
|
2008
|
9 |
1 |
|
artikel
|
| 37 |
Dinucleotide repeat polymorphism in Fms-like tyrosine kinase-1 (Flt-1) gene is not associated with preeclampsia
|
Kim, Shin-Young
|
|
2008
|
9 |
1 |
|
artikel
|
| 38 |
Distribution of the FYBES and RHCE*ce(733C>G) alleles in an Argentinean population: Implications for transfusion medicine
|
Cotorruelo, Carlos M
|
|
2008
|
9 |
1 |
|
artikel
|
| 39 |
DNA methylation and mRNA expression of SYN III, a candidate gene for schizophrenia
|
Murphy, Brenda C
|
|
2008
|
9 |
1 |
|
artikel
|
| 40 |
DNA sequence variants in the LOXL1 gene are associated with pseudoexfoliation glaucoma in a U.S. clinic-based population with broad ethnic diversity
|
Fan, Bao Jian
|
|
2008
|
9 |
1 |
|
artikel
|
| 41 |
Effects of common haplotypes of the ileal sodium dependent bile acid transporter gene on the development of sporadic and familial colorectal cancer: A case control study
|
Grünhage, Frank
|
|
2008
|
9 |
1 |
|
artikel
|
| 42 |
Effects of interacting networks of cardiovascular risk genes on the risk of type 2 diabetes mellitus (the CODAM study)
|
van Greevenbroek, Marleen MJ
|
|
2008
|
9 |
1 |
|
artikel
|
| 43 |
Evaluating the association of common PBX1 variants with type 2 diabetes
|
Duesing, Konsta
|
|
2008
|
9 |
1 |
|
artikel
|
| 44 |
Evaluation of the association between the common E469K polymorphism in the ICAM-1 gene and diabetic nephropathy among type 1 diabetic patients in GoKinD population
|
Ma, Jun
|
|
2008
|
9 |
1 |
|
artikel
|
| 45 |
Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene
|
Ulucan, Hakan
|
|
2008
|
9 |
1 |
|
artikel
|
| 46 |
Failure to replicate an association of SNPs in the oxidized LDL receptor gene (OLR1) with CAD
|
Knowles, Joshua W
|
|
2008
|
9 |
1 |
|
artikel
|
| 47 |
'Fat mass and obesity associated' gene (FTO): No significant association of variant rs9939609 with weight loss in a lifestyle intervention and lipid metabolism markers in German obese children and adolescents
|
Müller, Timo D
|
|
2008
|
9 |
1 |
|
artikel
|
| 48 |
Five recurrent BRCA1/2 mutations are responsible for cancer predisposition in the majority of Slovenian breast cancer families
|
Krajc, Mateja
|
|
2008
|
9 |
1 |
|
artikel
|
| 49 |
Folliculin mutations are not associated with severe COPD
|
Cho, Michael H
|
|
2008
|
9 |
1 |
|
artikel
|
| 50 |
French database of children and adolescents with Prader-Willi syndrome
|
Molinas, Catherine
|
|
2008
|
9 |
1 |
|
artikel
|
| 51 |
FTO gene SNPs associated with extreme obesity in cases, controls and extremely discordant sister pairs
|
Price, R Arlen
|
|
2008
|
9 |
1 |
|
artikel
|
| 52 |
Functional analysis of the novel TBX5 c.1333delC mutation resulting in an extended TBX5 protein
|
Böhm, Johann
|
|
2008
|
9 |
1 |
|
artikel
|
| 53 |
Functional characterisation of the TSC1–TSC2 complex to assess multiple TSC2 variants identified in single families affected by tuberous sclerosis complex
|
Nellist, Mark
|
|
2008
|
9 |
1 |
|
artikel
|
| 54 |
Gene polymorphisms of superoxide dismutases and catalase in diabetes mellitus
|
Flekac, Milan
|
|
2008
|
9 |
1 |
|
artikel
|
| 55 |
Genes implicated in multiple sclerosis pathogenesis from consilience of genotyping and expression profiles in relapse and remission
|
Arthur, Ariel T
|
|
2008
|
9 |
1 |
|
artikel
|
| 56 |
Genetic and biochemical studies in Argentinean patients with variegate porphyria
|
Rossetti, María V
|
|
2008
|
9 |
1 |
|
artikel
|
| 57 |
Genetic and functional association of FAM5C with myocardial infarction
|
Connelly, Jessica J
|
|
2008
|
9 |
1 |
|
artikel
|
| 58 |
Genetic association study of synphilin-1 in idiopathic Parkinson's disease
|
Myhre, Ronny
|
|
2008
|
9 |
1 |
|
artikel
|
| 59 |
Genetic loci linked to Type 1 Diabetes and Multiple Sclerosis families in Sardinia
|
Pitzalis, Maristella
|
|
2008
|
9 |
1 |
|
artikel
|
| 60 |
Genetic polymorphisms are associated with serum levels of sex hormone binding globulin in postmenopausal women
|
Riancho, José A
|
|
2008
|
9 |
1 |
|
artikel
|
| 61 |
Genetic variability of histamine receptors in patients with Parkinson's disease
|
García-Martín, Elena
|
|
2008
|
9 |
1 |
|
artikel
|
| 62 |
Genome wide association for substance dependence: convergent results from epidemiologic and research volunteer samples
|
Johnson, Catherine
|
|
2008
|
9 |
1 |
|
artikel
|
| 63 |
Genome-wide association study for renal traits in the Framingham Heart and Atherosclerosis Risk in Communities Studies
|
Kottgen, Anna
|
|
2008
|
9 |
1 |
|
artikel
|
| 64 |
Genomic NGFB variation and multiple sclerosis in a case control study
|
Akkad, Denis A
|
|
2008
|
9 |
1 |
|
artikel
|
| 65 |
Heritability of cardiovascular risk factors in a Brazilian population: Baependi Heart Study
|
de Oliveira, Camila M
|
|
2008
|
9 |
1 |
|
artikel
|
| 66 |
Human genetic selection on the MTHFR 677C>T polymorphism
|
Mayor-Olea, Álvaro
|
|
2008
|
9 |
1 |
|
artikel
|
| 67 |
Identification of a novel KCNQ1 mutation associated with both Jervell and Lange-Nielsen and Romano-Ward forms of long QT syndrome in a Chinese family
|
Zhang, Su
|
|
2008
|
9 |
1 |
|
artikel
|
| 68 |
Immunological profile in a family with nephrogenic diabetes insipidus with a novel 11 kb deletion in AVPR2 and ARHGAP4 genes
|
Fujimoto, Masaya
|
|
2008
|
9 |
1 |
|
artikel
|
| 69 |
Impact of nine common type 2 diabetes risk polymorphisms in Asian Indian Sikhs: PPARG2 (Pro12Ala), IGF2BP2, TCF7L2 and FTO variants confer a significant risk
|
Sanghera, Dharambir K
|
|
2008
|
9 |
1 |
|
artikel
|
| 70 |
Influence of leukotriene gene polymorphisms on chronic rhinosinusitis
|
Al-Shemari, Hasan
|
|
2008
|
9 |
1 |
|
artikel
|
| 71 |
INSIG2 gene polymorphism is associated with increased subcutaneous fat in women and poor response to resistance training in men
|
Orkunoglu-Suer, Funda E
|
|
2008
|
9 |
1 |
|
artikel
|
| 72 |
Insulin gene polymorphisms in type 1 diabetes, Addison's disease and the polyglandular autoimmune syndrome type II
|
Ramos-Lopez, Elizabeth
|
|
2008
|
9 |
1 |
|
artikel
|
| 73 |
Investigation of 89 candidate gene variants for effects on all-cause mortality following acute coronary syndrome
|
Morgan, Thomas M
|
|
2008
|
9 |
1 |
|
artikel
|
| 74 |
Investigation of Gamma-aminobutyric acid (GABA) A receptors genes and migraine susceptibility
|
Fernandez, Francesca
|
|
2008
|
9 |
1 |
|
artikel
|
| 75 |
Lack of association between PKLR rs3020781 and NOS1AP rs7538490 and type 2 diabetes, overweight, obesity and related metabolic phenotypes in a Danish large-scale study: case-control studies and analyses of quantitative traits
|
Andreasen, Camilla Helene
|
|
2008
|
9 |
1 |
|
artikel
|
| 76 |
Lack of association between serotonin transporter gene polymorphism 5-HTTLPR and smoking among Polish population: a case-control study
|
Sieminska, Alicja
|
|
2008
|
9 |
1 |
|
artikel
|
| 77 |
Lack of association between the CALM1 core promoter polymorphism (-16C/T) and susceptibility to knee osteoarthritis in a Chinese Han population
|
Shi, Dongquan
|
|
2008
|
9 |
1 |
|
artikel
|
| 78 |
Lack of association of genetic variation in chromosome region 15q14-22.1 with type 2 diabetes in a Japanese population
|
Yamaguchi, Yuka
|
|
2008
|
9 |
1 |
|
artikel
|
| 79 |
Lack of evidence for association of primary sclerosing cholangitis and primary biliary cirrhosis with risk alleles for Crohn's disease in Polish patients
|
Gaj, Pawel
|
|
2008
|
9 |
1 |
|
artikel
|
| 80 |
Linkage disequilibrium mapping of a breast cancer susceptibility locus near RAI/PPP1R13L/iASPP
|
Nexø, Bjørn A
|
|
2008
|
9 |
1 |
|
artikel
|
| 81 |
Linkage study of fibrinogen levels: the Strong Heart Family Study
|
Best, Lyle G
|
|
2008
|
9 |
1 |
|
artikel
|
| 82 |
Methionine synthase A2756G polymorphism may predict ulcerative colitis and methylenetetrahydrofolate reductase C677T pancolitis, in Central China
|
Chen, Min
|
|
2008
|
9 |
1 |
|
artikel
|
| 83 |
Methylation of class II transactivator gene promoter IV is not associated with susceptibility to Multiple Sclerosis
|
Ramagopalan, Sreeram V
|
|
2008
|
9 |
1 |
|
artikel
|
| 84 |
Minisequencing mitochondrial DNA pathogenic mutations
|
Álvarez-Iglesias, Vanesa
|
|
2008
|
9 |
1 |
|
artikel
|
| 85 |
Mitochondrial haplogroup H1 is protective for ischemic stroke in Portuguese patients
|
Rosa, Alexandra
|
|
2008
|
9 |
1 |
|
artikel
|
| 86 |
Multiple interactions between the alpha2C- and beta1-adrenergic receptors influence heart failure survival
|
Kardia, Sharon LR
|
|
2008
|
9 |
1 |
|
artikel
|
| 87 |
Multiple strand displacement amplification of mitochondrial DNA from clinical samples
|
Maragh, Samantha
|
|
2008
|
9 |
1 |
|
artikel
|
| 88 |
Mutation spectrum of 122 hemophilia A families from Taiwanese population by LD-PCR, DHPLC, multiplex PCR and evaluating the clinical application of HRM
|
Lin, Shin-Yu
|
|
2008
|
9 |
1 |
|
artikel
|
| 89 |
Mutation study of Spanish patients with Hereditary Hemorrhagic Telangiectasia
|
Fontalba, Ana
|
|
2008
|
9 |
1 |
|
artikel
|
| 90 |
N-acetyltransferase 8, a positional candidate for blood pressure and renal regulation: resequencing, association and in silico study
|
Juhanson, Peeter
|
|
2008
|
9 |
1 |
|
artikel
|
| 91 |
New evidence of a mitochondrial genetic background paradox: Impact of the J haplogroup on the A3243G mutation
|
Pierron, Denis
|
|
2008
|
9 |
1 |
|
artikel
|
| 92 |
Nicotinic acetylcholine receptor subunit variants are associated with blood pressure; findings in the Old Order Amish and replication in the Framingham Heart Study
|
McArdle, Patrick F
|
|
2008
|
9 |
1 |
|
artikel
|
| 93 |
No evidence for association between BMI and 10 candidate genes at ages 4, 7 and 10 in a large UK sample of twins
|
Haworth, Claire MA
|
|
2008
|
9 |
1 |
|
artikel
|
| 94 |
No germline mutations in supposed tumour suppressor genes SAFB1 and SAFB2 in familial breast cancer with linkage to 19p
|
Bergman, Annika
|
|
2008
|
9 |
1 |
|
artikel
|
| 95 |
Non-synonymous sequence variants within the oxygen-dependent degradation domain of the HIF1A gene are not associated with pre-eclampsia in the Finnish population
|
Heino, Sanna
|
|
2008
|
9 |
1 |
|
artikel
|
| 96 |
Novel de novo BRCA2 mutation in a patient with a family history of breast cancer
|
Hansen, Thomas V O
|
|
2008
|
9 |
1 |
|
artikel
|
| 97 |
Polymorphisms in the interleukin-10 gene cluster are possibly involved in the increased risk for major depressive disorder
|
Traks, Tanel
|
|
2008
|
9 |
1 |
|
artikel
|
| 98 |
Polymorphisms near EXOC4 and LRGUK on chromosome 7q32 are associated with Type 2 Diabetes and fasting glucose; The NHLBI Family Heart Study
|
Laramie, Jason M
|
|
2008
|
9 |
1 |
|
artikel
|
| 99 |
Polymorphisms of selected Xenobiotic Genes contribute to the development of Papillary Thyroid Cancer susceptibility in Middle Eastern population
|
Siraj, Abdul K
|
|
2008
|
9 |
1 |
|
artikel
|
| 100 |
Prevalence of variations in melanoma susceptibility genes among Slovenian melanoma families
|
Peric, Barbara
|
|
2008
|
9 |
1 |
|
artikel
|
| 101 |
Protective effect of KCNH2 single nucleotide polymorphism K897T in LQTS families and identification of novel KCNQ1 and KCNH2 mutations
|
Zhang, Xianqin
|
|
2008
|
9 |
1 |
|
artikel
|
| 102 |
QTLs of factors of the metabolic syndrome and echocardiographic phenotypes: the hypertension genetic epidemiology network study
|
Kraja, Aldi T
|
|
2008
|
9 |
1 |
|
artikel
|
| 103 |
R497K polymorphism in epidermal growth factor receptor gene is associated with the risk of acute coronary syndrome
|
Gao, Lin-Bo
|
|
2008
|
9 |
1 |
|
artikel
|
| 104 |
Role of TGF-β1 haplotypes in the occurrence of myocardial infarction in young Italian patients
|
Crobu, Francesca
|
|
2008
|
9 |
1 |
|
artikel
|
| 105 |
Selecting a BRCA risk assessment model for use in a familial cancer clinic
|
Panchal, Seema M
|
|
2008
|
9 |
1 |
|
artikel
|
| 106 |
Ser80Ile mutation and a concurrent Pro25Leu variant of the VHL gene in an extended Hungarian von Hippel-Lindau family
|
Patocs, Attila
|
|
2008
|
9 |
1 |
|
artikel
|
| 107 |
Significant association of SREBP-2 genetic polymorphisms with avascular necrosis in the Korean population
|
Kim, Tae-Ho
|
|
2008
|
9 |
1 |
|
artikel
|
| 108 |
SIRT1 genetic variants associate with the metabolic response of Caucasians to a controlled lifestyle intervention – the TULIP Study
|
Weyrich, Peter
|
|
2008
|
9 |
1 |
|
artikel
|
| 109 |
SNP selection for genes of iron metabolism in a study of genetic modifiers of hemochromatosis
|
Constantine, Clare C
|
|
2008
|
9 |
1 |
|
artikel
|
| 110 |
TCF7L2 gene polymorphisms do not predict susceptibility to diabetes in tropical calcific pancreatitis but may interact with SPINK1 and CTSB mutations in predicting diabetes
|
Mahurkar, Swapna
|
|
2008
|
9 |
1 |
|
artikel
|
| 111 |
TCF7L2 variant genotypes and type 2 diabetes risk in Brazil: significant association, but not a significant tool for risk stratification in the general population
|
Marquezine, GF
|
|
2008
|
9 |
1 |
|
artikel
|
| 112 |
The APOA5 Trp19 allele is associated with metabolic syndrome via its association with plasma triglycerides
|
Dallongeville, Jean
|
|
2008
|
9 |
1 |
|
artikel
|
| 113 |
The association between genetic variants in hMLH1 and hMSH2 and the development of sporadic colorectal cancer in the Danish population
|
Christensen, Lise Lotte
|
|
2008
|
9 |
1 |
|
artikel
|
| 114 |
The estrogen hypothesis of Schizophrenia implicates glucose metabolism: Association study in three independent samples
|
Olsen, Line
|
|
2008
|
9 |
1 |
|
artikel
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