| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A catalase promoter variant rs1001179 is associated with visual acuity but not with primary angle closure glaucoma in Saudi patients
|
Abu-Amero, Khaled K
|
|
2013
|
14 |
1 |
|
artikel
|
| 2 |
A combined targeted mutation analysis of IRF6 gene would be useful in the first screening of oral facial clefts
|
Wu-Chou, Yah-Huei
|
|
2013
|
14 |
1 |
|
artikel
|
| 3 |
A compound heterozygous mutation in HADHB gene causes an axonal Charcot-Marie-tooth disease
|
Hong, Young Bin
|
|
2013
|
14 |
1 |
|
artikel
|
| 4 |
A comprehensive investigation of variants in genes encoding adiponectin (ADIPOQ) and its receptors (ADIPOR1/R2), and their association with serum adiponectin, type 2 diabetes, insulin resistance and the metabolic syndrome
|
Peters, Kirsten E
|
|
2013
|
14 |
1 |
|
artikel
|
| 5 |
A genetic variant of the atrial natriuretic peptide gene is associated with left ventricular hypertrophy in a non-diabetic population – the Malmö preventive project study
|
Jujić, Amra
|
|
2013
|
14 |
1 |
|
artikel
|
| 6 |
A genome-wide search for common SNP x SNP interactions on the risk of venous thrombosis
|
Greliche, Nicolas
|
|
2013
|
14 |
1 |
|
artikel
|
| 7 |
Allele-specific polymerase chain reaction for the detection of Alzheimer’s disease-related single nucleotide polymorphisms
|
Darawi, Mohd Nazif
|
|
2013
|
14 |
1 |
|
artikel
|
| 8 |
Analysis of the contribution of FTO, NPC1, ENPP1, NEGR1, GNPDA2 and MC4R genes to obesity in Mexican children
|
Mejía-Benítez, Aurora
|
|
2013
|
14 |
1 |
|
artikel
|
| 9 |
Aneuploidy in neuroblastoma tumors is not associated with inactivating point mutations in the STAG2 gene
|
Djos, Anna
|
|
2013
|
14 |
1 |
|
artikel
|
| 10 |
Annual acknowledgement of reviewers
|
Sands, Tim
|
|
2013
|
14 |
1 |
|
artikel
|
| 11 |
A PARK2 polymorphism associated with delayed neuropsychological sequelae after carbon monoxide poisoning
|
Liang, Fei
|
|
2013
|
14 |
1 |
|
artikel
|
| 12 |
Assessment of the 9p21.3 locus in severity of coronary artery disease in the presence and absence of type 2 diabetes
|
Rivera, Natalia V
|
|
2013
|
14 |
1 |
|
artikel
|
| 13 |
Association between a frequent variant of the FTO gene and anthropometric phenotypes in Brazilian children
|
da Silva, Carmela Farias
|
|
2013
|
14 |
1 |
|
artikel
|
| 14 |
Association between mutation of the NF2 gene and monosomy 22 in menopausal women with sporadic meningiomas
|
Tabernero, MariaDolores
|
|
2013
|
14 |
1 |
|
artikel
|
| 15 |
Association between paraoxonase gene and stroke in the Han Chinese population
|
Zhang, Guojun
|
|
2013
|
14 |
1 |
|
artikel
|
| 16 |
Association between UCP2 A55V polymorphism and risk of cardiovascular events in patients with multi-vessel coronary arterial disease
|
Gioli-Pereira, Luciana
|
|
2013
|
14 |
1 |
|
artikel
|
| 17 |
Association of interleukin-33 gene single nucleotide polymorphisms with ischemic stroke in north Chinese population
|
Guo, Liang
|
|
2013
|
14 |
1 |
|
artikel
|
| 18 |
Associations between serotonin transporter gene polymorphisms and heat pain perception in adults with chronic pain
|
Hooten, W Michael
|
|
2013
|
14 |
1 |
|
artikel
|
| 19 |
A study of two Chinese patients with tetrasomy and pentasomy 15q11q13 including Prader-Willi/Angelman syndrome critical region present with developmental delays and mental impairment
|
Yang, Jing
|
|
2013
|
14 |
1 |
|
artikel
|
| 20 |
Bilateral radial agenesis with absent thumbs, complex heart defect, short stature, and facial dysmorphism in a patient with pure distal microduplication of 5q35.2-5q35.3
|
Jamsheer, Aleksander
|
|
2013
|
14 |
1 |
|
artikel
|
| 21 |
BRCA1/2 mutation screening in high-risk breast/ovarian cancer families and sporadic cancer patient surveilling for hidden high-risk families
|
Berzina, Dace
|
|
2013
|
14 |
1 |
|
artikel
|
| 22 |
Cancer-testis gene expression is associated with the methylenetetrahydrofolate reductase 677 C>T polymorphism in non-small cell lung carcinoma
|
Senses, Kerem M
|
|
2013
|
14 |
1 |
|
artikel
|
| 23 |
Characterization of a rare case of Ullrich congenital muscular dystrophy due to truncating mutations within the COL6A1 gene C-Terminal domain: a case report
|
Martoni, Elena
|
|
2013
|
14 |
1 |
|
artikel
|
| 24 |
Combinational analysis of linkage and exome sequencing identifies the causative mutation in a Chinese family with congenital cataract
|
Jia, Xueyuan
|
|
2013
|
14 |
1 |
|
artikel
|
| 25 |
Compound heterozygosity of predicted loss-of-function DES variants in a family with recessive desminopathy
|
McLaughlin, Heather M
|
|
2013
|
14 |
1 |
|
artikel
|
| 26 |
Contribution of SLC7A1 genetic variant to hypertension, the TAMRISK study
|
Määttä, Kirsi
|
|
2013
|
14 |
1 |
|
artikel
|
| 27 |
Contribution of the PALB2 c.2323C>T [p.Q775X] Founder mutation in well-defined breast and/or ovarian cancer families and unselected ovarian cancer cases of French Canadian descent
|
Tischkowitz, Marc
|
|
2013
|
14 |
1 |
|
artikel
|
| 28 |
Copy number variations in endoglin locus: mapping of large deletions in Spanish families with hereditary hemorrhagic telangiectasia type 1
|
Fontalba, Ana
|
|
2013
|
14 |
1 |
|
artikel
|
| 29 |
Cytokine gene polymorphisms and serum cytokine levels in patients with idiopathic pulmonary fibrosis
|
Alhamad, Esam H
|
|
2013
|
14 |
1 |
|
artikel
|
| 30 |
Defining the contribution of SNPs identified in asthma GWAS to clinical variables in asthmatic children
|
Tulah, Asif S
|
|
2013
|
14 |
1 |
|
artikel
|
| 31 |
Deletions within COL11A1 in Type 2 stickler syndrome detected by multiplex ligation-dependent probe amplification (MLPA)
|
Vijzelaar, Raymon
|
|
2013
|
14 |
1 |
|
artikel
|
| 32 |
Deletion Xq27.3q28 in female patient with global developmental delays and skewed X-inactivation
|
Marshall, Lauren S
|
|
2013
|
14 |
1 |
|
artikel
|
| 33 |
Detailed investigations of proximal tubular function in Imerslund-Gräsbeck syndrome
|
Storm, Tina
|
|
2013
|
14 |
1 |
|
artikel
|
| 34 |
Development and validation of a multiplex-PCR assay for X-linked intellectual disability
|
Jorge, Paula
|
|
2013
|
14 |
1 |
|
artikel
|
| 35 |
Diagnostic laboratory testing for Charcot Marie Tooth disease (CMT): the spectrum of gene defects in Norwegian patients with CMT and its implications for future genetic test strategies
|
Østern, Rune
|
|
2013
|
14 |
1 |
|
artikel
|
| 36 |
Discontinuous microduplications at chromosome 10q24.31 identified in a Chinese family with split hand and foot malformation
|
Dai, Li
|
|
2013
|
14 |
1 |
|
artikel
|
| 37 |
Disruption of AP3B1 by a chromosome 5 inversion: a new disease mechanism in Hermansky-Pudlak syndrome type 2
|
Jones, Matthew L
|
|
2013
|
14 |
1 |
|
artikel
|
| 38 |
DNA methylation of the glucagon-like peptide 1 receptor (GLP1R) in human pancreatic islets
|
Hall, Elin
|
|
2013
|
14 |
1 |
|
artikel
|
| 39 |
DNA methylation within the I.4 promoter region correlates with CYPl19A1 gene expression in human ex vivo mature omental and subcutaneous adipocytes
|
Lewis, Joshua R
|
|
2013
|
14 |
1 |
|
artikel
|
| 40 |
Dopamine-agonist responsive Parkinsonism in a patient with the SANDO syndrome caused by POLG mutation
|
Bandettini di Poggio, Monica
|
|
2013
|
14 |
1 |
|
artikel
|
| 41 |
Dystonia, facial dysmorphism, intellectual disability and breast cancer associated with a chromosome 13q34 duplication and overexpression of TFDP1: case report
|
Moscovich, Mariana
|
|
2013
|
14 |
1 |
|
artikel
|
| 42 |
Effects of smoking on the genetic risk of obesity: the population architecture using genomics and epidemiology study
|
Fesinmeyer, Megan D
|
|
2013
|
14 |
1 |
|
artikel
|
| 43 |
Effects of vitamin D receptor polymorphisms on urolithiasis risk: a meta-analysis
|
Zhang, Pan
|
|
2013
|
14 |
1 |
|
artikel
|
| 44 |
Epistatic study reveals two genetic interactions in blood pressure regulation
|
Ndiaye, Ndeye Coumba
|
|
2013
|
14 |
1 |
|
artikel
|
| 45 |
Evaluation of DNA damage in COPD patients and its correlation with polymorphisms in repair genes
|
da Silva, Andréa Lúcia Gonçalves
|
|
2013
|
14 |
1 |
|
artikel
|
| 46 |
Evaluation of the IL2/IL21, IL2RA and IL2RB genetic variants influence on the endogenous non-anterior uveitis genetic predisposition
|
Cénit, María Carmen
|
|
2013
|
14 |
1 |
|
artikel
|
| 47 |
Evaluation of the need for routine clinical testing of PALB2 c.1592delT mutation in BRCA negative Northern Finnish breast cancer families
|
Haanpää, Maria
|
|
2013
|
14 |
1 |
|
artikel
|
| 48 |
Exome sequencing of a patient with suspected mitochondrial disease reveals a likely multigenic etiology
|
Craigen, William J
|
|
2013
|
14 |
1 |
|
artikel
|
| 49 |
Facioscapulohumeral muscular dystrophy and Charcot-Marie-Tooth neuropathy 1A - evidence for “double trouble” overlapping syndromes
|
Schreiber, Olivia
|
|
2013
|
14 |
1 |
|
artikel
|
| 50 |
Familial hypercholesterolemia mutations in Petrozavodsk: no similarity to St. Petersburg mutation spectrum
|
Komarova, Tatiana Yu
|
|
2013
|
14 |
1 |
|
artikel
|
| 51 |
Family-based associations in measures of psychological distress and quality of life in a cardiac screening clinic for inheritable cardiac diseases: a cross-sectional study
|
McGorrian, Catherine
|
|
2013
|
14 |
1 |
|
artikel
|
| 52 |
Functional characterisation of human cells harbouring a novel t(2p;7p) translocation involving TNS3 and EXOC6B genes
|
Ludwig, Desiree
|
|
2013
|
14 |
1 |
|
artikel
|
| 53 |
Functional examination of MLH1, MSH2, and MSH6 intronic mutations identified in Danish colorectal cancer patients
|
Petersen, Sanne M
|
|
2013
|
14 |
1 |
|
artikel
|
| 54 |
Genetic and biochemical markers of hydroxyurea therapeutic response in sickle cell anemia
|
Silva, Danilo Grunig Humberto
|
|
2013
|
14 |
1 |
|
artikel
|
| 55 |
Genetic interaction of GSH metabolic pathway genes in cystic fibrosis
|
Marson, Fernando Augusto de Lima
|
|
2013
|
14 |
1 |
|
artikel
|
| 56 |
Genetic mapping of high caries experience on human chromosome 13
|
Küchler, Erika C
|
|
2013
|
14 |
1 |
|
artikel
|
| 57 |
Genetics of coronary artery calcification among African Americans, a meta-analysis
|
Wojczynski, Mary K
|
|
2013
|
14 |
1 |
|
artikel
|
| 58 |
Genetic variants associated with circulating MMP1 levels near matrix metalloproteinase genes on chromosome 11q21-22 in Taiwanese: interaction with obesity
|
Huang, Hsuan-Li
|
|
2013
|
14 |
1 |
|
artikel
|
| 59 |
Genetic variants associated with fasting glucose and insulin concentrations in an ethnically diverse population: results from the Population Architecture using Genomics and Epidemiology (PAGE) study
|
Fesinmeyer, Megan D
|
|
2013
|
14 |
1 |
|
artikel
|
| 60 |
Genetic variants of MARCO are associated with susceptibility to pulmonary tuberculosis in a Gambian population
|
Bowdish, Dawn ME
|
|
2013
|
14 |
1 |
|
artikel
|
| 61 |
Genome-wide analysis validates aberrant methylation in fragile X syndrome is specific to the FMR1 locus
|
Alisch, Reid S
|
|
2013
|
14 |
1 |
|
artikel
|
| 62 |
Genome-wide methylation profiling of the bronchial mucosa of asthmatics: relationship to atopy
|
Kim, Yoon-Jeong
|
|
2013
|
14 |
1 |
|
artikel
|
| 63 |
Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome
|
Gervasini, Cristina
|
|
2013
|
14 |
1 |
|
artikel
|
| 64 |
Heterozygous FA2H mutations in autism spectrum disorders
|
Scheid, Isabelle
|
|
2013
|
14 |
1 |
|
artikel
|
| 65 |
Heterozygous p.Asp50Asn mutation in the GJB2 gene in two Cameroonian patients with keratitis-ichthyosis-deafness (KID) syndrome
|
Wonkam, Ambroise
|
|
2013
|
14 |
1 |
|
artikel
|
| 66 |
High Resolution Melting analysis as a rapid and efficient method of screening for small mutations in the STK11 gene in patients with Peutz-Jeghers syndrome
|
Borun, Pawel
|
|
2013
|
14 |
1 |
|
artikel
|
| 67 |
Identification of novel mutation in cathepsin C gene causing Papillon-Lefèvre Syndrome in Mexican patients
|
Romero-Quintana, José G
|
|
2013
|
14 |
1 |
|
artikel
|
| 68 |
Incidence of hereditary amyloidosis and autoinflammatory diseases in Sweden: endemic and imported diseases
|
Hemminki, Kari
|
|
2013
|
14 |
1 |
|
artikel
|
| 69 |
Influence of FTO variants on obesity, inflammation and cardiovascular disease risk biomarkers in Spanish children: a case–control multicentre study
|
Olza, Josune
|
|
2013
|
14 |
1 |
|
artikel
|
| 70 |
Inherited KIF21A and PAX6 gene mutations in a boy with congenital Fibrosis of extraocular muscles and aniridia
|
Ying, Ming
|
|
2013
|
14 |
1 |
|
artikel
|
| 71 |
Interactive effect of STAT6 and IL13 gene polymorphisms on eczema status: results from a longitudinal and a cross-sectional study
|
Ziyab, Ali H
|
|
2013
|
14 |
1 |
|
artikel
|
| 72 |
Introduction of the AmpliChip CYP450 Test to a South African cohort: a platform comparative prospective cohort study
|
Dodgen, Tyren M
|
|
2013
|
14 |
1 |
|
artikel
|
| 73 |
Investigating highly replicated asthma genes as candidate genes for allergic rhinitis
|
Andiappan, Anand Kumar
|
|
2013
|
14 |
1 |
|
artikel
|
| 74 |
ITGB5 and AGFG1 variants are associated with severity of airway responsiveness
|
Himes, Blanca E
|
|
2013
|
14 |
1 |
|
artikel
|
| 75 |
Lack of association between a functional variant of the BRCA-1 related associated protein (BRAP) gene and ischemic stroke
|
Liao, Yi-Chu
|
|
2013
|
14 |
1 |
|
artikel
|
| 76 |
Lack of association between Fas rs180082 polymorphism and risk of cervical cancer: an update by meta-analysis
|
Chen, Xu
|
|
2013
|
14 |
1 |
|
artikel
|
| 77 |
Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in pendred syndrome/enlarged vestibular aqueducts
|
Landa, Priya
|
|
2013
|
14 |
1 |
|
artikel
|
| 78 |
Lipid trait-associated genetic variation is associated with gallstone disease in the diverse Third National Health and Nutrition Examination Survey (NHANES III)
|
Goodloe, Robert
|
|
2013
|
14 |
1 |
|
artikel
|
| 79 |
LMNA mutations in Polish patients with dilated cardiomyopathy: prevalence, clinical characteristics, and in vitro studies
|
Saj, Michal
|
|
2013
|
14 |
1 |
|
artikel
|
| 80 |
Meta-analysis of associations between TCF7L2 polymorphisms and risk of type 2 diabetes mellitus in the Chinese population
|
Wang, Jinjin
|
|
2013
|
14 |
1 |
|
artikel
|
| 81 |
Microsomal triglyceride transfer protein -164 T > C gene polymorphism and risk of cardiovascular disease: results from the EPIC-Potsdam case-cohort study
|
di Giuseppe, Romina
|
|
2013
|
14 |
1 |
|
artikel
|
| 82 |
Mitochondrial DNA haplogroups confer differences in risk for age-related macular degeneration: a case control study
|
Kenney, M Cristina
|
|
2013
|
14 |
1 |
|
artikel
|
| 83 |
Mitochondrial DNA variant m.15218A > G in Finnish epilepsy patients who have maternal relatives with epilepsy, sensorineural hearing impairment or diabetes mellitus
|
Soini, Heidi K
|
|
2013
|
14 |
1 |
|
artikel
|
| 84 |
MLPA-based genotype–phenotype analysis in 1053 Chinese patients with DMD/BMD
|
Yang, Juan
|
|
2013
|
14 |
1 |
|
artikel
|
| 85 |
Molecular diagnosis of distal renal tubular acidosis in Tunisian patients: proposed algorithm for Northern Africa populations for the ATP6V1B1, ATP6V0A4 and SCL4A1 genes
|
Elhayek, Donia
|
|
2013
|
14 |
1 |
|
artikel
|
| 86 |
MS-MLPA analysis for FMR1 gene: evaluation in a routine diagnostic setting
|
Gatta, Valentina
|
|
2013
|
14 |
1 |
|
artikel
|
| 87 |
Multiplex genetic cancer testing identifies pathogenic mutations in TP53 and CDH1 in a patient with bilateral breast and endometrial adenocarcinoma
|
Heitzer, Ellen
|
|
2013
|
14 |
1 |
|
artikel
|
| 88 |
Mutation spectrum in human colorectal cancers and potential functional relevance
|
Yin, Hongzhuan
|
|
2013
|
14 |
1 |
|
artikel
|
| 89 |
Newborn screening for citrin deficiency and carnitine uptake defect using second-tier molecular tests
|
Wang, Li-Yun
|
|
2013
|
14 |
1 |
|
artikel
|
| 90 |
Novel cAMP binding protein-BP (CREBBP) mutation in a girl with Rubinstein-Taybi syndrome, GH deficiency, Arnold Chiari malformation and pituitary hypoplasia
|
Marzuillo, Pierluigi
|
|
2013
|
14 |
1 |
|
artikel
|
| 91 |
Novel PTRF mutation in a child with mild myopathy and very mild congenital lipodystrophy
|
Ardissone, Anna
|
|
2013
|
14 |
1 |
|
artikel
|
| 92 |
NQO1 C609T polymorphism and esophageal cancer risk: a HuGE review and meta-analysis
|
Yanling, Hu
|
|
2013
|
14 |
1 |
|
artikel
|
| 93 |
Optimization of simultaneous screening of the main mutations involved in non-syndromic deafness using the TaqMan® OpenArray™ Genotyping Platform
|
Martins, Fábio Tadeu Arrojo
|
|
2013
|
14 |
1 |
|
artikel
|
| 94 |
OTOF mutation screening in Japanese severe to profound recessive hearing loss patients
|
Iwasa, Yoh-ichiro
|
|
2013
|
14 |
1 |
|
artikel
|
| 95 |
Parent of origin influences the cardiac expression of vascular endothelial growth factor (Vegfa)
|
Chiu, Christine L
|
|
2013
|
14 |
1 |
|
artikel
|
| 96 |
Pathogenic substitution of IVS15 + 5G > A in SLC26A4 in patients of Okinawa Islands with enlarged vestibular aqueduct syndrome or Pendred syndrome
|
Ganaha, Akira
|
|
2013
|
14 |
1 |
|
artikel
|
| 97 |
Pedigree and genotyping quality analyses of over 10,000 DNA samples from the Generation Scotland: Scottish Family Health Study
|
Kerr, Shona M
|
|
2013
|
14 |
1 |
|
artikel
|
| 98 |
Polymorphisms in FGF12, VCL, CX43 and VAX1 in Brazilian patients with nonsyndromic cleft lip with or without cleft palate
|
de Aquino, Sibele Nascimento
|
|
2013
|
14 |
1 |
|
artikel
|
| 99 |
Potential contribution of SIM2 and ETS2 functional polymorphisms in Down syndrome associated malignancies
|
Chatterjee, Arpita
|
|
2013
|
14 |
1 |
|
artikel
|
| 100 |
Rare recessive loss-of-function methionyl-tRNA synthetase mutations presenting as a multi-organ phenotype
|
van Meel, Eline
|
|
2013
|
14 |
1 |
|
artikel
|
| 101 |
Reduced genetic influence on childhood obesity in small for gestational age children
|
Han, Dug Yeo
|
|
2013
|
14 |
1 |
|
artikel
|
| 102 |
Relationship between polymorphisms in vitamin D metabolism-related genes and the risk of rickets in Han Chinese children
|
Zhang, Yuling
|
|
2013
|
14 |
1 |
|
artikel
|
| 103 |
Re-sequencing of the APOAI promoter region and the genetic association of the -75G > A polymorphism with increased cholesterol and low density lipoprotein levels among a sample of the Kuwaiti population
|
Al-Bustan, Suzanne A
|
|
2013
|
14 |
1 |
|
artikel
|
| 104 |
Risk interaction of obesity, insulin resistance and hormone-sensitive lipase promoter polymorphisms (LIPE-60 C > G) in the development of fatty liver
|
Hsiao, Pi-Jung
|
|
2013
|
14 |
1 |
|
artikel
|
| 105 |
Risk loci for coronary artery calcification replicated at 9p21 and 6q24 in the Heinz Nixdorf Recall Study
|
Pechlivanis, Sonali
|
|
2013
|
14 |
1 |
|
artikel
|
| 106 |
Schizophrenia susceptibility and NMDA-receptor mediated signalling: an association study involving 32 tagSNPs of DAO, DAOA, PPP3CC, and DTNBP1 genes
|
Sacchetti, Emilio
|
|
2013
|
14 |
1 |
|
artikel
|
| 107 |
Screening of Y chromosome microdeletions in 46,XY partial gonadal dysgenesis and in patients with a 45,X/46,XY karyotype or its variants
|
dos Santos, Ana Paula
|
|
2013
|
14 |
1 |
|
artikel
|
| 108 |
Sequence variants in oxytocin pathway genes and preterm birth: a candidate gene association study
|
Kim, Jinsil
|
|
2013
|
14 |
1 |
|
artikel
|
| 109 |
Sequencing of NOTCH1, GATA5, TGFBR1 and TGFBR2 genes in familial cases of bicuspid aortic valve
|
Foffa, Ilenia
|
|
2013
|
14 |
1 |
|
artikel
|
| 110 |
Sequencing of the IL6 gene in a case–control study of cerebral palsy in children
|
Khankhanian, Pouya
|
|
2013
|
14 |
1 |
|
artikel
|
| 111 |
Serum 25-hydroxyvitamin D3 levels and vitamin D receptor variants in melanoma patients from the Mediterranean area of Barcelona
|
Ogbah, Zighereda
|
|
2013
|
14 |
1 |
|
artikel
|
| 112 |
SOD2 gene Val16Ala polymorphism is associated with macroalbuminuria in Mexican Type 2 Diabetes patients: a comparative study and meta-analysis
|
Ascencio-Montiel, Iván de Jesús
|
|
2013
|
14 |
1 |
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artikel
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| 113 |
Splice site SNPs of phospholipase PLCXD3 are significantly associated with variant and sporadic Creutzfeldt-Jakob disease
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Bishop, Matthew T
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2013
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| 114 |
Studies of association of AGPAT6 variants with type 2 diabetes and related metabolic phenotypes in 12,068 Danes
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Snogdal, Lena Sønder
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2013
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| 115 |
Study design of DIACORE (DIAbetes COhoRtE) – a cohort study of patients with diabetes mellitus type 2
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Dörhöfer, Lena
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2013
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| 116 |
Systematic identification of DNA variants associated with ultraviolet radiation using a novel Geographic-Wide Association Study (GeoWAS)
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Hsu, Irving
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2013
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| 117 |
Targeted exome sequencing for mitochondrial disorders reveals high genetic heterogeneity
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DaRe, Jeana T
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2013
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| 118 |
The association between the angiotensin-converting enzyme-2 gene and blood pressure in a cohort study of adolescents
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Malard, Lucile
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2013
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| 119 |
The associations between the polymorphisms in the CTLA-4 gene and the risk of Graves’ disease in the Chinese population
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Du, Liang
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2013
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| 120 |
The CARD8 p.C10X mutation associates with a low anti-glycans antibody response in patients with Crohn’s disease
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Vasseur, Francis
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2013
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| 121 |
The carrier rate and mutation spectrum of genes associated with hearing loss in South China hearing female population of childbearing age
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Yin, Aihua
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2013
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| 122 |
The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia
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Fonseca, Ana Carolina S
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2013
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| 123 |
The promoter of miR-663 is hypermethylated in Chinese pediatric acute myeloid leukemia (AML)
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Yan-Fang, Tao
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2013
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| 124 |
The silence of MUC2 mRNA induced by promoter hypermethylation associated with HBV in Hepatocellular Carcinoma
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Ling, Yang
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2013
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| 125 |
The TCF7L2 rs7903146 (T) allele is associated with type 2 diabetes in urban Ghana: a hospital-based case–control study
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Danquah, Ina
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2013
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| 126 |
The 3′-UTR of the adiponectin Q gene harbours susceptibility loci for atherosclerosis and its metabolic risk traits
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Muiya, Nzioka
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2013
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| 127 |
Three novel germ-line VHL mutations in Hungarian von Hippel-Lindau patients, including a nonsense mutation in a fifteen-year-old boy with renal cell carcinoma
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Losonczy, Gergely
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2013
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| 128 |
Vitamin D-responsive SGPP2 variants associated with lung cell expression and lung function
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Reardon, Brian J
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2013
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| 129 |
Whole-exome sequencing identifies MYO15A mutations as a cause of autosomal recessive nonsyndromic hearing loss in Korean families
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Woo, Hae-Mi
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2013
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14 |
1 |
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