| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction
|
Weaver, K. Nicole
|
|
2015
|
96 |
5 |
p. 765-774
10 p.
|
artikel
|
| 2 |
A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology
|
Migliavacca, Eugenia
|
|
2015
|
96 |
5 |
p. 784-796
13 p.
|
artikel
|
| 3 |
Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3
|
Chong, Jessica X.
|
|
2015
|
96 |
5 |
p. 841-849
9 p.
|
artikel
|
| 4 |
Biallelic Mutations of Methionyl-tRNA Synthetase Cause a Specific Type of Pulmonary Alveolar Proteinosis Prevalent on Réunion Island
|
Hadchouel, Alice
|
|
2015
|
96 |
5 |
p. 826-831
6 p.
|
artikel
|
| 5 |
Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome
|
Mlynarski, Elisabeth E.
|
|
2015
|
96 |
5 |
p. 753-764
12 p.
|
artikel
|
| 6 |
Genome-wide Analysis of Body Proportion Classifies Height-Associated Variants by Mechanism of Action and Implicates Genes Important for Skeletal Development
|
Chan, Yingleong
|
|
2015
|
96 |
5 |
p. 695-708
14 p.
|
artikel
|
| 7 |
HLA-DPB1 and HLA Class I Confer Risk of and Protection from Narcolepsy
|
Ollila, Hanna M.
|
|
2015
|
96 |
5 |
p. 852-
1 p.
|
artikel
|
| 8 |
IDS Crossing of the Blood-Brain Barrier Corrects CNS Defects in MPSII Mice
|
Polito, Vinicia Assunta
|
|
2015
|
96 |
5 |
p. 850-851
2 p.
|
artikel
|
| 9 |
Leveraging Multi-ethnic Evidence for Mapping Complex Traits in Minority Populations: An Empirical Bayes Approach
|
Coram, Marc A.
|
|
2015
|
96 |
5 |
p. 740-752
13 p.
|
artikel
|
| 10 |
Low-Frequency Coding Variants at 6p21.33 and 20q11.21 Are Associated with Lung Cancer Risk in Chinese Populations
|
Jin, Guangfu
|
|
2015
|
96 |
5 |
p. 832-840
9 p.
|
artikel
|
| 11 |
Lupus Risk Variant Increases pSTAT1 Binding and Decreases ETS1 Expression
|
Lu, Xiaoming
|
|
2015
|
96 |
5 |
p. 731-739
9 p.
|
artikel
|
| 12 |
Mixed Model with Correction for Case-Control Ascertainment Increases Association Power
|
Hayeck, Tristan J.
|
|
2015
|
96 |
5 |
p. 720-730
11 p.
|
artikel
|
| 13 |
Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies
|
Niceta, Marcello
|
|
2015
|
96 |
5 |
p. 816-825
10 p.
|
artikel
|
| 14 |
Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination
|
Nakayama, Tojo
|
|
2015
|
96 |
5 |
p. 709-719
11 p.
|
artikel
|
| 15 |
Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures
|
Carvill, Gemma L.
|
|
2015
|
96 |
5 |
p. 808-815
8 p.
|
artikel
|
| 16 |
Testing in Microbiome-Profiling Studies with MiRKAT, the Microbiome Regression-Based Kernel Association Test
|
Zhao, Ni
|
|
2015
|
96 |
5 |
p. 797-807
11 p.
|
artikel
|
| 17 |
The Kalash Genetic Isolate: Ancient Divergence, Drift, and Selection
|
Ayub, Qasim
|
|
2015
|
96 |
5 |
p. 775-783
9 p.
|
artikel
|
| 18 |
This Month in Genetics
|
Garber, Kathryn B.
|
|
2015
|
96 |
5 |
p. 693-694
2 p.
|
artikel
|
| 19 |
This Month in The Journal
|
Ratzel, Sarah
|
|
2015
|
96 |
5 |
p. 691-692
2 p.
|
artikel
|
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