| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A Genome-wide Association Study of Dupuytren Disease Reveals 17 Additional Variants Implicated in Fibrosis
|
Ng, Michael
|
|
2017
|
101 |
3 |
p. 417-427
|
artikel
|
| 2 |
A Recurrent Missense Mutation in ZP3 Causes Empty Follicle Syndrome and Female Infertility
|
Chen, Tailai
|
|
2017
|
101 |
3 |
p. 459-465
|
artikel
|
| 3 |
A Scalable Bayesian Method for Integrating Functional Information in Genome-wide Association Studies
|
Yang, Jingjing
|
|
2017
|
101 |
3 |
p. 404-416
|
artikel
|
| 4 |
CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays
|
Windpassinger, Christian
|
|
2017
|
101 |
3 |
p. 391-403
|
artikel
|
| 5 |
Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44
|
Watson, Lauren M.
|
|
2017
|
101 |
3 |
p. 451-458
|
artikel
|
| 6 |
Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder
|
Krupp, Deidre R.
|
|
2017
|
101 |
3 |
p. 369-390
|
artikel
|
| 7 |
Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia
|
Marin-Valencia, Isaac
|
|
2017
|
101 |
3 |
p. 441-450
|
artikel
|
| 8 |
Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development
|
Ivanova, Ekaterina L.
|
|
2017
|
101 |
3 |
p. 428-440
|
artikel
|
| 9 |
RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes
|
Reijnders, Margot R.F.
|
|
2017
|
101 |
3 |
p. 466-477
|
artikel
|
| 10 |
Sensitive Monogenic Noninvasive Prenatal Diagnosis by Targeted Haplotyping
|
Vermeulen, Carlo
|
|
2017
|
101 |
3 |
p. 326-339
|
artikel
|
| 11 |
Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated Genes
|
Lelieveld, Stefan H.
|
|
2017
|
101 |
3 |
p. 478-484
|
artikel
|
| 12 |
The Genetic Legacy of Zoroastrianism in Iran and India: Insights into Population Structure, Gene Flow, and Selection
|
López, Saioa
|
|
2017
|
101 |
3 |
p. 353-368
|
artikel
|
| 13 |
This Month in Genetics
|
Garber, Kathryn B.
|
|
2017
|
101 |
3 |
p. 313-314
|
artikel
|
| 14 |
This Month in The Journal
|
Ratzel, Sarah
|
|
2017
|
101 |
3 |
p. 311-312
|
artikel
|
| 15 |
Unified Sequence-Based Association Tests Allowing for Multiple Functional Annotations and Meta-analysis of Noncoding Variation in Metabochip Data
|
He, Zihuai
|
|
2017
|
101 |
3 |
p. 340-352
|
artikel
|
| 16 |
Variant Interpretation: Functional Assays to the Rescue
|
Starita, Lea M.
|
|
2017
|
101 |
3 |
p. 315-325
|
artikel
|
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