| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Ambiguous external genitalia due to defect of 5-α-reductase in seven Iraqi patients: Prevalence of a novel mutation
|
Di Marco, Chiara
|
|
2013
|
526 |
2 |
p. 490-493
4 p.
|
artikel
|
| 2 |
Analysis of the inheritance pattern of a Chinese family with phaeochromocytomas through whole exome sequencing
|
Cao, Min
|
|
2013
|
526 |
2 |
p. 164-169
6 p.
|
artikel
|
| 3 |
Analysis of the sphingomyelin phosphodiesterase 1 gene (SMPD1) in Turkish Niemann–Pick disease patients: Mutation profile and description of a novel mutation
|
Aykut, A.
|
|
2013
|
526 |
2 |
p. 484-486
3 p.
|
artikel
|
| 4 |
A novel mutation (c. 341A>G) in the SRY gene in a 46,XY female patient with gonadal dysgenesis
|
Helszer, Zofia
|
|
2013
|
526 |
2 |
p. 467-470
4 p.
|
artikel
|
| 5 |
A novel mutation in a large family causes a unique phenotype of Mucolipidosis IV
|
AlBakheet, AlBandary
|
|
2013
|
526 |
2 |
p. 464-466
3 p.
|
artikel
|
| 6 |
Apolipoprotein E genotype and LRP1 polymorphisms in patients with different clinical types of metachromatic leukodystrophy
|
Ługowska, Agnieszka
|
|
2013
|
526 |
2 |
p. 176-181
6 p.
|
artikel
|
| 7 |
A rational, non-radioactive strategy for the molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency
|
Coeli-Lacchini, Fernanda Borchers
|
|
2013
|
526 |
2 |
p. 239-245
7 p.
|
artikel
|
| 8 |
Association between genetic polymorphisms of Toll-like receptor 2 (TLR2) and schizophrenia in the Korean population
|
Kang, Won Sub
|
|
2013
|
526 |
2 |
p. 182-186
5 p.
|
artikel
|
| 9 |
Association between rs10118757(A/G) in methylthioadenosine phosphorylase gene and coronary artery disease in Chinese Hans
|
Lv, Xiaofei
|
|
2013
|
526 |
2 |
p. 344-346
3 p.
|
artikel
|
| 10 |
Association of ERCC1-C118T and -C8092A polymorphisms with lung cancer risk and survival of advanced-stage non-small cell lung cancer patients receiving platinum-based chemotherapy: A pooled analysis based on 39 reports
|
Xu, Tong-Peng
|
|
2013
|
526 |
2 |
p. 265-274
10 p.
|
artikel
|
| 11 |
Association of genetic polymorphisms in ADH and ALDH2 with risk of coronary artery disease and myocardial infarction: A meta-analysis
|
Han, Hongguang
|
|
2013
|
526 |
2 |
p. 134-141
8 p.
|
artikel
|
| 12 |
Association of glutathione S-transferase polymorphisms (GSTM1 and GSTT1) with primary open-angle glaucoma: An evidence-based meta-analysis
|
Huang, Wenbin
|
|
2013
|
526 |
2 |
p. 80-86
7 p.
|
artikel
|
| 13 |
Association of RAGE gene polymorphism with circulating AGEs level and paraoxonase activity in relation to macro-vascular complications in Indian type 2 diabetes mellitus patients
|
Bansal, Savita
|
|
2013
|
526 |
2 |
p. 325-330
6 p.
|
artikel
|
| 14 |
Association of the macrophage migration inhibitory factor gene −173G/C polymorphism with inflammatory bowel disease: A meta-analysis of 4296 subjects
|
Zhang, Hui
|
|
2013
|
526 |
2 |
p. 228-231
4 p.
|
artikel
|
| 15 |
Aza-induced cardiomyocyte differentiation of P19 EC-cells by epigenetic co-regulation and ERK signaling
|
Abbey, Deepti
|
|
2013
|
526 |
2 |
p. 364-373
10 p.
|
artikel
|
| 16 |
Characterization of genome-wide binding of NF-κB in TNFα-stimulated HeLa cells
|
Xing, Yujun
|
|
2013
|
526 |
2 |
p. 142-149
8 p.
|
artikel
|
| 17 |
Comparison of dynamics of wildtype and V94M human UDP-galactose 4-epimerase—A computational perspective on severe epimerase-deficiency galactosemia
|
Timson, David J.
|
|
2013
|
526 |
2 |
p. 318-324
7 p.
|
artikel
|
| 18 |
Corrigendum to “Mutational screening of SF1 and WNT4 in Tunisian women with premature ovarian failure” [Gene 509 (2012) 298–301]
|
Lakhal, Besma
|
|
2013
|
526 |
2 |
p. 498-
1 p.
|
artikel
|
| 19 |
CYP2C9 genotype and association with bone mineral density: A pilot study
|
Brunner-Ziegler, Sophie
|
|
2013
|
526 |
2 |
p. 295-298
4 p.
|
artikel
|
| 20 |
DAXX silencing suppresses mouse ovarian surface epithelial cell growth by inducing senescence and DNA damage
|
Pan, Wei-Wei
|
|
2013
|
526 |
2 |
p. 287-294
8 p.
|
artikel
|
| 21 |
Distribution of the Val108/158Met polymorphism of the COMT gene in healthy Mexican population
|
González-Castro, Thelma Beatriz
|
|
2013
|
526 |
2 |
p. 454-458
5 p.
|
artikel
|
| 22 |
Editorial Board
|
|
|
2013
|
526 |
2 |
p. iv-v
nvt p.
|
artikel
|
| 23 |
Extension of the molecular analysis to the promoter region of the iduronate 2-sulfatase gene reveals genomic alterations in mucopolysaccharidosis type II patients with normal coding sequence
|
Brusius-Facchin, Ana Carolina
|
|
2013
|
526 |
2 |
p. 150-154
5 p.
|
artikel
|
| 24 |
Extracting a few functionally reproducible biomarkers to build robust subnetwork-based classifiers for the diagnosis of cancer
|
Zhang, Lin
|
|
2013
|
526 |
2 |
p. 232-238
7 p.
|
artikel
|
| 25 |
FB-NOF is a non-autonomous transposable element, expressed in Drosophila melanogaster and present only in the melanogaster group
|
Badal, Martí
|
|
2013
|
526 |
2 |
p. 459-463
5 p.
|
artikel
|
| 26 |
Functional characterization of the plant ubiquitin regulatory X (UBX) domain-containing protein AtPUX7 in Arabidopsis thaliana
|
Gallois, Jean-Luc
|
|
2013
|
526 |
2 |
p. 299-308
10 p.
|
artikel
|
| 27 |
Genetic variants in TERT–CLPTM1L genetic region associated with several types of cancer: A meta-analysis
|
Li, Cheng
|
|
2013
|
526 |
2 |
p. 390-399
10 p.
|
artikel
|
| 28 |
Identification, expression, and taxonomic distribution of alternative oxidases in non-angiosperm plants
|
Neimanis, Karina
|
|
2013
|
526 |
2 |
p. 275-286
12 p.
|
artikel
|
| 29 |
Identification of genes influencing formation of the Type III Brush Hair in Yangtze River Delta white goats by differential display of mRNA
|
Li, Yongjun
|
|
2013
|
526 |
2 |
p. 205-209
5 p.
|
artikel
|
| 30 |
Identification of one novel causative mutation in exon 4 of WFS1 gene in two Italian siblings with classical DIDMOAD syndrome phenotype
|
Rigoli, Luciana
|
|
2013
|
526 |
2 |
p. 487-489
3 p.
|
artikel
|
| 31 |
Impacts and interactions of PDGFRB, MMP-3, TIMP-2, and RNF213 polymorphisms on the risk of Moyamoya disease in Han Chinese human subjects
|
Wang, Xiaomeng
|
|
2013
|
526 |
2 |
p. 437-442
6 p.
|
artikel
|
| 32 |
Indigenous and foreign Y-chromosomes characterize the Lingayat and Vokkaliga populations of Southwest India
|
Chennakrishnaiah, Shilpa
|
|
2013
|
526 |
2 |
p. 96-106
11 p.
|
artikel
|
| 33 |
Inhibition of CXCR4 expression by recombinant adenoviruses containing anti-sense RNA resists HIV-1 infection on MT4 cell lines
|
Li, Wen-Gang
|
|
2013
|
526 |
2 |
p. 443-448
6 p.
|
artikel
|
| 34 |
Inventory and general analysis of the ATP-binding cassette (ABC) gene superfamily in maize (Zea mays L.)
|
Pang, Kaiyuan
|
|
2013
|
526 |
2 |
p. 411-428
18 p.
|
artikel
|
| 35 |
Klotho gene polymorphism of rs3752472 is associated with the risk of urinary calculi in the population of Han nationality in Eastern China
|
Xu, Chen
|
|
2013
|
526 |
2 |
p. 494-497
4 p.
|
artikel
|
| 36 |
Lack of association of EGR2 variants with bipolar disorder in Japanese population
|
Balan, Shabeesh
|
|
2013
|
526 |
2 |
p. 246-250
5 p.
|
artikel
|
| 37 |
Localization and functional analysis of HmgB3p, a novel protein containing high-mobility-group-box domain from Tetrahymena thermophila
|
Xu, Jing
|
|
2013
|
526 |
2 |
p. 87-95
9 p.
|
artikel
|
| 38 |
Locating QTLs controlling several adult root traits in an elite Chinese hybrid rice
|
Liang, Yong Shu
|
|
2013
|
526 |
2 |
p. 331-335
5 p.
|
artikel
|
| 39 |
Major cis-regulatory elements for rice bidirectional promoter activity reside in the 5′-untranslated regions
|
Dhadi, Surendar Reddy
|
|
2013
|
526 |
2 |
p. 400-410
11 p.
|
artikel
|
| 40 |
Major vault protein (MVP) gene polymorphisms and drug resistance in mesial temporal lobe epilepsy with hippocampal sclerosis
|
Balan, Shabeesh
|
|
2013
|
526 |
2 |
p. 449-453
5 p.
|
artikel
|
| 41 |
MH-DAB gene polymorphism and disease resistance to Flavobacterium columnare in grass carp (Ctenopharyngodon idellus)
|
Yu, Hui
|
|
2013
|
526 |
2 |
p. 217-222
6 p.
|
artikel
|
| 42 |
Modes of acrosin functioning during fertilization
|
Mao, Hai-Tao
|
|
2013
|
526 |
2 |
p. 75-79
5 p.
|
artikel
|
| 43 |
Molecular cloning and characterization of perlucin from the freshwater pearl mussel, Hyriopsis cumingii
|
Lin, Jing-Yun
|
|
2013
|
526 |
2 |
p. 210-216
7 p.
|
artikel
|
| 44 |
Molecular cloning and characterization of TNFSF14 (LIGHT) and its receptor TNFRSF14 (HVEM) in guinea pig (Cavia porcellus)
|
Li, Chunlan
|
|
2013
|
526 |
2 |
p. 374-384
11 p.
|
artikel
|
| 45 |
Multiple bursts of pancreatic ribonuclease gene duplication in insect-eating bats
|
Xu, Huihui
|
|
2013
|
526 |
2 |
p. 112-117
6 p.
|
artikel
|
| 46 |
Next generation sequencing as a useful tool in the diagnostics of mosaicism in Alport syndrome
|
Beicht, Sonja
|
|
2013
|
526 |
2 |
p. 474-477
4 p.
|
artikel
|
| 47 |
Ontogenic expression pattern and genetic polymorphisms of the retinol-binding protein 4 (RBP4) gene in Erlang mountainous chickens
|
Yin, Hua-Dong
|
|
2013
|
526 |
2 |
p. 170-175
6 p.
|
artikel
|
| 48 |
Over-expression of the miRNA cluster at chromosome 14q32 in the alcoholic brain correlates with suppression of predicted target mRNA required for oligodendrocyte proliferation
|
Manzardo, A.M.
|
|
2013
|
526 |
2 |
p. 356-363
8 p.
|
artikel
|
| 49 |
Partial venom gland transcriptome of a Drosophila parasitoid wasp, Leptopilina heterotoma, reveals novel and shared bioactive profiles with stinging Hymenoptera
|
Heavner, Mary E.
|
|
2013
|
526 |
2 |
p. 195-204
10 p.
|
artikel
|
| 50 |
Phenylalanine hydroxylase deficiency in the Slovak population: Genotype–phenotype correlations and genotype-based predictions of BH4-responsiveness
|
Polak, Emil
|
|
2013
|
526 |
2 |
p. 347-355
9 p.
|
artikel
|
| 51 |
Poly(ADP-ribose) glycohydrolase and poly(ADP-ribose)-interacting protein Hrp38 regulate pattern formation during Drosophila eye development
|
Ji, Yingbiao
|
|
2013
|
526 |
2 |
p. 187-194
8 p.
|
artikel
|
| 52 |
Prolonged fasting activates hypoxia inducible factors-1α, -2α and -3α in a tissue-specific manner in northern elephant seal pups
|
Soñanez-Organis, José G.
|
|
2013
|
526 |
2 |
p. 155-163
9 p.
|
artikel
|
| 53 |
Relationship of polymorphisms within ZBED6 gene and growth traits in beef cattle
|
Huang, Yong-Zhen
|
|
2013
|
526 |
2 |
p. 107-111
5 p.
|
artikel
|
| 54 |
Remarkable similarities between the hemichordate (Saccoglossus kowalevskii) and vertebrate GPCR repertoire
|
Krishnan, Arunkumar
|
|
2013
|
526 |
2 |
p. 122-133
12 p.
|
artikel
|
| 55 |
Replication study of STAT4 rs7574865 G/T polymorphism and risk of rheumatoid arthritis in a Chinese population
|
Shen, Li
|
|
2013
|
526 |
2 |
p. 259-264
6 p.
|
artikel
|
| 56 |
Single nucleotide polymorphism in hMLH1 promoter and risk of tobacco-related oral carcinoma in high-risk Asian Indians
|
Jha, Ritu
|
|
2013
|
526 |
2 |
p. 223-227
5 p.
|
artikel
|
| 57 |
Soluble epoxide hydrolase: Gene structure, expression and deletion
|
Harris, Todd R.
|
|
2013
|
526 |
2 |
p. 61-74
14 p.
|
artikel
|
| 58 |
The complete mitochondrial genome of Sasakia funebris (Leech) (Lepidoptera: Nymphalidae) and comparison with other Apaturinae insects
|
Wang, Ju Ping
|
|
2013
|
526 |
2 |
p. 336-343
8 p.
|
artikel
|
| 59 |
The complete mitochondrial genome of the Ailanthus silkmoth, Samia cynthia cynthia (Lepidoptera: Saturniidae)
|
Sima, Yang-Hu
|
|
2013
|
526 |
2 |
p. 309-317
9 p.
|
artikel
|
| 60 |
The contribution of platelet glycoproteins (GPIa C807T and GPIba C-5T) and cyclooxygenase 2 (COX-2G-765C) polymorphisms to platelet response in patients treated with aspirin
|
Al-Azzam, Sayer I.
|
|
2013
|
526 |
2 |
p. 118-121
4 p.
|
artikel
|
| 61 |
The genetic polymorphisms of cathepsin S were associated with metabolic disorders in a Chinese Han population
|
Ou, Zejin
|
|
2013
|
526 |
2 |
p. 385-389
5 p.
|
artikel
|
| 62 |
The polymorphism in the promoter region of metallothionein 1 is associated with heat tolerance of scallop Argopecten irradians
|
Yang, Chuanyan
|
|
2013
|
526 |
2 |
p. 429-436
8 p.
|
artikel
|
| 63 |
The unclassified variant: c.2044AD>G, p.T682A (het.) in exon 12 of the GLI3 gene in a patient with oral-facial-digital syndrome type II (Mohr syndrome) phenotype
|
Al-Qattan, Mohammad M.
|
|
2013
|
526 |
2 |
p. 471-473
3 p.
|
artikel
|
| 64 |
Transcriptomic analysis of purple leaf determination in birch
|
Lin, Lin
|
|
2013
|
526 |
2 |
p. 251-258
8 p.
|
artikel
|
| 65 |
XRCC3 Thr241Met polymorphism and risk of acute myeloid leukemia in a Romanian population
|
Bănescu, Claudia
|
|
2013
|
526 |
2 |
p. 478-483
6 p.
|
artikel
|
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