| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A Mechanism for Controlled Access to GWAS Data: Experience of the GAIN Data Access Committee
|
Ramos, Erin M.
|
|
2013
|
92 |
4 |
p. 479-488
10 p.
|
artikel
|
| 2 |
An African American Paternal Lineage Adds an Extremely Ancient Root to the Human Y Chromosome Phylogenetic Tree
|
Mendez, Fernando L.
|
|
2013
|
92 |
4 |
p. 637-
1 p.
|
artikel
|
| 3 |
Common Risk Alleles for Inflammatory Diseases Are Targets of Recent Positive Selection
|
Raj, Towfique
|
|
2013
|
92 |
4 |
p. 517-529
13 p.
|
artikel
|
| 4 |
Complete Haplotype Sequence of the Human Immunoglobulin Heavy-Chain Variable, Diversity, and Joining Genes and Characterization of Allelic and Copy-Number Variation
|
Watson, Corey T.
|
|
2013
|
92 |
4 |
p. 530-546
17 p.
|
artikel
|
| 5 |
Deficiency in SLC25A1, Encoding the Mitochondrial Citrate Carrier, Causes Combined D-2- and L-2-Hydroxyglutaric Aciduria
|
Nota, Benjamin
|
|
2013
|
92 |
4 |
p. 627-631
5 p.
|
artikel
|
| 6 |
Enhanced Maternal Origin of the 22q11.2 Deletion in Velocardiofacial and DiGeorge Syndromes
|
Delio, Maria
|
|
2013
|
92 |
4 |
p. 637-
1 p.
|
artikel
|
| 7 |
Functional Variants at the 11q13 Risk Locus for Breast Cancer Regulate Cyclin D1 Expression through Long-Range Enhancers
|
French, Juliet D.
|
|
2013
|
92 |
4 |
p. 489-503
15 p.
|
artikel
|
| 8 |
GIGI: An Approach to Effective Imputation of Dense Genotypes on Large Pedigrees
|
Cheung, Charles Y.K.
|
|
2013
|
92 |
4 |
p. 504-516
13 p.
|
artikel
|
| 9 |
Hypomorphic Mutations in PGAP2, Encoding a GPI-Anchor-Remodeling Protein, Cause Autosomal-Recessive Intellectual Disability
|
Hansen, Lars
|
|
2013
|
92 |
4 |
p. 575-583
9 p.
|
artikel
|
| 10 |
Improving the Accuracy and Efficiency of Partitioning Heritability into the Contributions of Genomic Regions
|
Kostem, Emrah
|
|
2013
|
92 |
4 |
p. 558-564
7 p.
|
artikel
|
| 11 |
Mosaicism of the UDP-Galactose Transporter SLC35A2 Causes a Congenital Disorder of Glycosylation
|
Ng, Bobby G.
|
|
2013
|
92 |
4 |
p. 632-636
5 p.
|
artikel
|
| 12 |
Mutations in EOGT Confirm the Genetic Heterogeneity of Autosomal-Recessive Adams-Oliver Syndrome
|
Shaheen, Ranad
|
|
2013
|
92 |
4 |
p. 598-604
7 p.
|
artikel
|
| 13 |
Mutations in KCTD1 Cause Scalp-Ear-Nipple Syndrome
|
Marneros, Alexander G.
|
|
2013
|
92 |
4 |
p. 621-626
6 p.
|
artikel
|
| 14 |
Mutations in LARS2, Encoding Mitochondrial Leucyl-tRNA Synthetase, Lead to Premature Ovarian Failure and Hearing Loss in Perrault Syndrome
|
Pierce, Sarah B.
|
|
2013
|
92 |
4 |
p. 614-620
7 p.
|
artikel
|
| 15 |
Mutations in WNT1 Cause Different Forms of Bone Fragility
|
Keupp, Katharina
|
|
2013
|
92 |
4 |
p. 565-574
10 p.
|
artikel
|
| 16 |
Perrault Syndrome Is Caused by Recessive Mutations in CLPP, Encoding a Mitochondrial ATP-Dependent Chambered Protease
|
Jenkinson, Emma M.
|
|
2013
|
92 |
4 |
p. 605-613
9 p.
|
artikel
|
| 17 |
PGAP2 Mutations, Affecting the GPI-Anchor-Synthesis Pathway, Cause Hyperphosphatasia with Mental Retardation Syndrome
|
Krawitz, Peter M.
|
|
2013
|
92 |
4 |
p. 584-589
6 p.
|
artikel
|
| 18 |
The Benefits of Using Genetic Information to Design Prevention Trials
|
Hu, Youna
|
|
2013
|
92 |
4 |
p. 547-557
11 p.
|
artikel
|
| 19 |
This Month in Genetics
|
Garber, Kathryn B.
|
|
2013
|
92 |
4 |
p. 477-478
2 p.
|
artikel
|
| 20 |
This Month in The Journal
|
Ratzel, Sarah
|
|
2013
|
92 |
4 |
p. 475-476
2 p.
|
artikel
|
| 21 |
WNT1 Mutations in Families Affected by Moderately Severe and Progressive Recessive Osteogenesis Imperfecta
|
Pyott, Shawna M.
|
|
2013
|
92 |
4 |
p. 590-597
8 p.
|
artikel
|
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