| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder
|
Cuvertino, Sara
|
|
2017
|
101 |
6 |
p. 1021-1033
|
artikel
|
| 2 |
Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder
|
Falkenberg, Kim D.
|
|
2017
|
101 |
6 |
p. 965-976
|
artikel
|
| 3 |
A Powerful Approach to Estimating Annotation-Stratified Genetic Covariance via GWAS Summary Statistics
|
Lu, Qiongshi
|
|
2017
|
101 |
6 |
p. 939-964
|
artikel
|
| 4 |
A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations
|
Palmer, Elizabeth E.
|
|
2017
|
101 |
6 |
p. 995-1005
|
artikel
|
| 5 |
A Selection Operator for Summary Association Statistics Reveals Allelic Heterogeneity of Complex Traits
|
Ning, Zheng
|
|
2017
|
101 |
6 |
p. 903-912
|
artikel
|
| 6 |
De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait Abnormalities
|
Martin, Sonja
|
|
2017
|
101 |
6 |
p. 1013-1020
|
artikel
|
| 7 |
DNA Methylation Analysis Identifies Loci for Blood Pressure Regulation
|
Richard, Melissa A.
|
|
2017
|
101 |
6 |
p. 888-902
|
artikel
|
| 8 |
Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations
|
Sanna-Cherchi, Simone
|
|
2017
|
101 |
6 |
p. 1034
|
artikel
|
| 9 |
Functional Consequences of CHRNA7 Copy-Number Alterations in Induced Pluripotent Stem Cells and Neural Progenitor Cells
|
Gillentine, Madelyn A.
|
|
2017
|
101 |
6 |
p. 874-887
|
artikel
|
| 10 |
Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions
|
Tan, Tiong Yang
|
|
2017
|
101 |
6 |
p. 985-994
|
artikel
|
| 11 |
Multiethnic GWAS Reveals Polygenic Architecture of Earlobe Attachment
|
Shaffer, John R.
|
|
2017
|
101 |
6 |
p. 913-924
|
artikel
|
| 12 |
Mutations in TUBB4B Cause a Distinctive Sensorineural Disease
|
Luscan, Romain
|
|
2017
|
101 |
6 |
p. 1006-1012
|
artikel
|
| 13 |
Penetrance of Polygenic Obesity Susceptibility Loci across the Body Mass Index Distribution
|
Abadi, Arkan
|
|
2017
|
101 |
6 |
p. 925-938
|
artikel
|
| 14 |
So Long, and Thanks for All the Genes!
|
Nelson, David L.
|
|
2017
|
101 |
6 |
p. 871-873
|
artikel
|
| 15 |
The Genetic Legacy of the Indian Ocean Slave Trade: Recent Admixture and Post-admixture Selection in the Makranis of Pakistan
|
Laso-Jadart, Romuald
|
|
2017
|
101 |
6 |
p. 977-984
|
artikel
|
| 16 |
This Month in Genetics
|
Garber, Kathryn B.
|
|
2017
|
101 |
6 |
p. 869-870
|
artikel
|
| 17 |
This Month in The Journal
|
Ratzel, Sarah
|
|
2017
|
101 |
6 |
p. 867-868
|
artikel
|
Tijdschrift beschrijving