| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A Follow-Up Study of a Genome-wide Association Scan Identifies a Susceptibility Locus for Venous Thrombosis on Chromosome 6p24.1
|
Morange, Pierre-Emmanuel
|
|
2010
|
86 |
4 |
p. 655-
1 p.
|
artikel
|
| 2 |
A Follow-Up Study of a Genome-wide Association Scan Identifies a Susceptibility Locus for Venous Thrombosis on Chromosome 6p24.1
|
Morange, Pierre-Emmanuel
|
|
2010
|
86 |
4 |
p. 592-595
4 p.
|
artikel
|
| 3 |
A Single-Nucleotide Deletion in the POMP 5′ UTR Causes a Transcriptional Switch and Altered Epidermal Proteasome Distribution in KLICK Genodermatosis
|
Dahlqvist, Johanna
|
|
2010
|
86 |
4 |
p. 596-603
8 p.
|
artikel
|
| 4 |
A Single-Nucleotide Deletion in the POMP 5′ UTR Causes a Transcriptional Switch and Altered Epidermal Proteasome Distribution in KLICK Genodermatosis
|
Dahlqvist, Johanna
|
|
2010
|
86 |
4 |
p. 655-
1 p.
|
artikel
|
| 5 |
Autosomal-Dominant Woolly Hair Resulting from Disruption of Keratin 74 (KRT74), a Potential Determinant of Human Hair Texture
|
Shimomura, Yutaka
|
|
2010
|
86 |
4 |
p. 632-638
7 p.
|
artikel
|
| 6 |
A Variant in LIN28B Is Associated with 2D:4D Finger-Length Ratio, a Putative Retrospective Biomarker of Prenatal Testosterone Exposure
|
Medland, Sarah E.
|
|
2010
|
86 |
4 |
p. 519-525
7 p.
|
artikel
|
| 7 |
Common Variants of Large Effect in F12, KNG1, and HRG Are Associated with Activated Partial Thromboplastin Time
|
Houlihan, Lorna M.
|
|
2010
|
86 |
4 |
p. 626-631
6 p.
|
artikel
|
| 8 |
Evidence for Polygenic Susceptibility to Multiple Sclerosis—The Shape of Things to Come
|
The International Multiple Sclerosis Genetics Consortium (IMSGC),
|
|
2010
|
86 |
4 |
p. 621-625
5 p.
|
artikel
|
| 9 |
High-Resolution Detection of Identity by Descent in Unrelated Individuals
|
Browning, Sharon R.
|
|
2010
|
86 |
4 |
p. 526-539
14 p.
|
artikel
|
| 10 |
Integrating Pathway Analysis and Genetics of Gene Expression for Genome-wide Association Studies
|
Zhong, Hua
|
|
2010
|
86 |
4 |
p. 581-591
11 p.
|
artikel
|
| 11 |
Mutations in PTPRQ Are a Cause of Autosomal-Recessive Nonsyndromic Hearing Impairment DFNB84 and Associated with Vestibular Dysfunction
|
Schraders, Margit
|
|
2010
|
86 |
4 |
p. 604-610
7 p.
|
artikel
|
| 12 |
Mutations in the Gene Encoding the RER Protein FKBP65 Cause Autosomal-Recessive Osteogenesis Imperfecta
|
Alanay, Yasemin
|
|
2010
|
86 |
4 |
p. 551-559
9 p.
|
artikel
|
| 13 |
On Genome-wide Association Studies for Family-Based Designs: An Integrative Analysis Approach Combining Ascertained Family Samples with Unselected Controls
|
Lasky-Su, Jessica
|
|
2010
|
86 |
4 |
p. 573-580
8 p.
|
artikel
|
| 14 |
Previous Estimates of Mitochondrial DNA Mutation Level Variance Did Not Account for Sampling Error: Comparing the mtDNA Genetic Bottleneck in Mice and Humans
|
Wonnapinij, Passorn
|
|
2010
|
86 |
4 |
p. 540-550
11 p.
|
artikel
|
| 15 |
PRPS1 Mutations: Four Distinct Syndromes and Potential Treatment
|
de Brouwer, Arjan P.M.
|
|
2010
|
86 |
4 |
p. 506-518
13 p.
|
artikel
|
| 16 |
Response to Fusco et al.
|
Froyen, Guy
|
|
2010
|
86 |
4 |
p. 652-653
2 p.
|
artikel
|
| 17 |
Ribosomal Protein Genes RPS10 and RPS26 Are Commonly Mutated in Diamond-Blackfan Anemia
|
Doherty, Leana
|
|
2010
|
86 |
4 |
p. 655-656
2 p.
|
artikel
|
| 18 |
Robust Replication of Genotype-Phenotype Associations across Multiple Diseases in an Electronic Medical Record
|
Ritchie, Marylyn D.
|
|
2010
|
86 |
4 |
p. 560-572
13 p.
|
artikel
|
| 19 |
Severe X-Linked Mitochondrial Encephalomyopathy Associated with a Mutation in Apoptosis-Inducing Factor
|
Ghezzi, Daniele
|
|
2010
|
86 |
4 |
p. 639-649
11 p.
|
artikel
|
| 20 |
Strong Maternal Khoisan Contribution to the South African Coloured Population: A Case of Gender-Biased Admixture
|
Quintana-Murci, Lluis
|
|
2010
|
86 |
4 |
p. 654-
1 p.
|
artikel
|
| 21 |
Strong Maternal Khoisan Contribution to the South African Coloured Population: A Case of Gender-Biased Admixture
|
Quintana-Murci, Lluis
|
|
2010
|
86 |
4 |
p. 611-620
10 p.
|
artikel
|
| 22 |
The LCR at the IKBKG Locus Is Prone to Recombine
|
Fusco, Francesca
|
|
2010
|
86 |
4 |
p. 650-652
3 p.
|
artikel
|
| 23 |
This Month in Genetics
|
Garber, Kathryn B.
|
|
2010
|
86 |
4 |
p. 503-505
3 p.
|
artikel
|
| 24 |
This Month in The Journal
|
Bungartz, Kathryn D.
|
|
2010
|
86 |
4 |
p. 501-502
2 p.
|
artikel
|
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