| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A Dementia-Associated Risk Variant near TMEM106B Alters Chromatin Architecture and Gene Expression
|
Gallagher, Michael D.
|
|
2017
|
101 |
5 |
p. 643-663
|
artikel
|
| 2 |
De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder
|
Lessel, Davor
|
|
2017
|
101 |
5 |
p. 716-724
|
artikel
|
| 3 |
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability
|
Küry, Sébastien
|
|
2017
|
101 |
5 |
p. 768-788
|
artikel
|
| 4 |
De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction
|
Ehmke, Nadja
|
|
2017
|
101 |
5 |
p. 833-843
|
artikel
|
| 5 |
De Novo Mutations in SLC25A24 Cause a Disorder Characterized by Early Aging, Bone Dysplasia, Characteristic Face, and Early Demise
|
Writzl, Karin
|
|
2017
|
101 |
5 |
p. 844-855
|
artikel
|
| 6 |
Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44
|
Watson, Lauren M.
|
|
2017
|
101 |
5 |
p. 866
|
artikel
|
| 7 |
Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations
|
Sanna-Cherchi, Simone
|
|
2017
|
101 |
5 |
p. 789-802
|
artikel
|
| 8 |
Genome-wide Ancestry and Demographic History of African-Descendant Maroon Communities from French Guiana and Suriname
|
Fortes-Lima, Cesar
|
|
2017
|
101 |
5 |
p. 725-736
|
artikel
|
| 9 |
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies
|
Hamdan, Fadi F.
|
|
2017
|
101 |
5 |
p. 664-685
|
artikel
|
| 10 |
Inferring Relevant Cell Types for Complex Traits by Using Single-Cell Gene Expression
|
Calderon, Diego
|
|
2017
|
101 |
5 |
p. 686-699
|
artikel
|
| 11 |
Local Genetic Correlation Gives Insights into the Shared Genetic Architecture of Complex Traits
|
Shi, Huwenbo
|
|
2017
|
101 |
5 |
p. 737-751
|
artikel
|
| 12 |
Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with “Corner Fractures”
|
Lee, Chae Syng
|
|
2017
|
101 |
5 |
p. 815-823
|
artikel
|
| 13 |
Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia
|
Nguyen, Thi Tuyet Mai
|
|
2017
|
101 |
5 |
p. 856-865
|
artikel
|
| 14 |
Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice
|
De Tomasi, Lara
|
|
2017
|
101 |
5 |
p. 803-814
|
artikel
|
| 15 |
Natural Selection on Genes Related to Cardiovascular Health in High-Altitude Adapted Andeans
|
Crawford, Jacob E.
|
|
2017
|
101 |
5 |
p. 752-767
|
artikel
|
| 16 |
Profiling of Short-Tandem-Repeat Disease Alleles in 12,632 Human Whole Genomes
|
Tang, Haibao
|
|
2017
|
101 |
5 |
p. 700-715
|
artikel
|
| 17 |
Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype
|
Lamers, Ideke J.C.
|
|
2017
|
101 |
5 |
p. 824-832
|
artikel
|
| 18 |
This Month in Genetics
|
Garber, Kathryn B.
|
|
2017
|
101 |
5 |
p. 641-642
|
artikel
|
| 19 |
This Month in The Journal
|
Ratzel, Sarah
|
|
2017
|
101 |
5 |
p. 639-640
|
artikel
|
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