| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Alternative Splicing QTLs in European and African Populations
|
Ongen, Halit
|
|
2015
|
97 |
4 |
p. 567-575
9 p.
|
artikel
|
| 2 |
Biallelic Mutations in Nuclear Pore Complex Subunit NUP107 Cause Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome
|
Miyake, Noriko
|
|
2015
|
97 |
4 |
p. 555-566
12 p.
|
artikel
|
| 3 |
Genetic Defects in TAPT1 Disrupt Ciliogenesis and Cause a Complex Lethal Osteochondrodysplasia
|
Symoens, Sofie
|
|
2015
|
97 |
4 |
p. 521-534
14 p.
|
artikel
|
| 4 |
Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6
|
Ratbi, Ilham
|
|
2015
|
97 |
4 |
p. 535-545
11 p.
|
artikel
|
| 5 |
Identification of a Recognizable Progressive Skeletal Dysplasia Caused by RSPRY1 Mutations
|
Faden, Maha
|
|
2015
|
97 |
4 |
p. 608-615
8 p.
|
artikel
|
| 6 |
Imputation of KIR Types from SNP Variation Data
|
Vukcevic, Damjan
|
|
2015
|
97 |
4 |
p. 593-607
15 p.
|
artikel
|
| 7 |
Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex
|
Olbrich, Heike
|
|
2015
|
97 |
4 |
p. 546-554
9 p.
|
artikel
|
| 8 |
Loss-of-Function Mutations in the WNT Co-receptor LRP6 Cause Autosomal-Dominant Oligodontia
|
Massink, Maarten P.G.
|
|
2015
|
97 |
4 |
p. 621-626
6 p.
|
artikel
|
| 9 |
Mary Lyon: A Tribute
|
Kalantry, Sundeep
|
|
2015
|
97 |
4 |
p. 507-511
5 p.
|
artikel
|
| 10 |
Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores
|
Vilhjálmsson, Bjarni J.
|
|
2015
|
97 |
4 |
p. 576-592
17 p.
|
artikel
|
| 11 |
Penetrance of Hemochromatosis in HFE Genotypes Resulting in p.Cys282Tyr and p.[Cys282Tyr];[His63Asp] in the eMERGE Network
|
Gallego, Carlos J.
|
|
2015
|
97 |
4 |
p. 512-520
9 p.
|
artikel
|
| 12 |
This Month in Genetics
|
Garber, Kathryn B.
|
|
2015
|
97 |
4 |
p. 505-506
2 p.
|
artikel
|
| 13 |
This Month in The Journal
|
Ratzel, Sarah
|
|
2015
|
97 |
4 |
p. 503-504
2 p.
|
artikel
|
| 14 |
Truncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe Arthrogryposis
|
Mejlachowicz, Dan
|
|
2015
|
97 |
4 |
p. 616-620
5 p.
|
artikel
|
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