| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A Novel Test for Recessive Contributions to Complex Diseases Implicates Bardet-Biedl Syndrome Gene BBS10 in Idiopathic Type 2 Diabetes and Obesity
|
Lim, Elaine T.
|
|
2014
|
95 |
5 |
p. 509-520
12 p.
|
artikel
|
| 2 |
A Peroxisomal Disorder of Severe Intellectual Disability, Epilepsy, and Cataracts Due to Fatty Acyl-CoA Reductase 1 Deficiency
|
Buchert, Rebecca
|
|
2014
|
95 |
5 |
p. 602-610
9 p.
|
artikel
|
| 3 |
A Selective Sweep on a Deleterious Mutation in CPT1A in Arctic Populations
|
Clemente, Florian J.
|
|
2014
|
95 |
5 |
p. 584-589
6 p.
|
artikel
|
| 4 |
Cross-Tissue and Tissue-Specific eQTLs: Partitioning the Heritability of a Complex Trait
|
Torres, Jason M.
|
|
2014
|
95 |
5 |
p. 521-534
14 p.
|
artikel
|
| 5 |
Dosage Changes of a Segment at 17p13.1 Lead to Intellectual Disability and Microcephaly as a Result of Complex Genetic Interaction of Multiple Genes
|
Carvalho, Claudia M.B.
|
|
2014
|
95 |
5 |
p. 565-578
14 p.
|
artikel
|
| 6 |
Molecular Convergence of Neurodevelopmental Disorders
|
Chen, Elizabeth S.
|
|
2014
|
95 |
5 |
p. 490-508
19 p.
|
artikel
|
| 7 |
Mutations in CKAP2L, the Human Homolog of the Mouse Radmis Gene, Cause Filippi Syndrome
|
Hussain, Muhammad Sajid
|
|
2014
|
95 |
5 |
p. 622-632
11 p.
|
artikel
|
| 8 |
Mutations in PURA Cause Profound Neonatal Hypotonia, Seizures, and Encephalopathy in 5q31.3 Microdeletion Syndrome
|
Lalani, Seema R.
|
|
2014
|
95 |
5 |
p. 579-583
5 p.
|
artikel
|
| 9 |
Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability Syndrome
|
Thomas, Anna C.
|
|
2014
|
95 |
5 |
p. 611-621
11 p.
|
artikel
|
| 10 |
Partitioning Heritability of Regulatory and Cell-Type-Specific Variants across 11 Common Diseases
|
Gusev, Alexander
|
|
2014
|
95 |
5 |
p. 535-552
18 p.
|
artikel
|
| 11 |
PRIMUS: Rapid Reconstruction of Pedigrees from Genome-wide Estimates of Identity by Descent
|
Staples, Jeffrey
|
|
2014
|
95 |
5 |
p. 553-564
12 p.
|
artikel
|
| 12 |
Structural Architecture of SNP Effects on Complex Traits
|
Gamazon, Eric R.
|
|
2014
|
95 |
5 |
p. 477-489
13 p.
|
artikel
|
| 13 |
This Month in Genetics
|
Garber, Kathryn B.
|
|
2014
|
95 |
5 |
p. 475-476
2 p.
|
artikel
|
| 14 |
This Month in The Journal
|
Ratzel, Sarah
|
|
2014
|
95 |
5 |
p. 473-474
2 p.
|
artikel
|
| 15 |
Truncating and Missense Mutations in IGHMBP2 Cause Charcot-Marie Tooth Disease Type 2
|
Cottenie, Ellen
|
|
2014
|
95 |
5 |
p. 590-601
12 p.
|
artikel
|
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