| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features
|
Santiago-Sim, Teresa
|
|
2017
|
100 |
4 |
p. 676-688
13 p.
|
artikel
|
| 2 |
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder
|
Küry, Sébastien
|
|
2017
|
100 |
4 |
p. 689-
1 p.
|
artikel
|
| 3 |
De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome
|
Jansen, Sandra
|
|
2017
|
100 |
4 |
p. 650-658
9 p.
|
artikel
|
| 4 |
Dynamic Role of trans Regulation of Gene Expression in Relation to Complex Traits
|
Yao, Chen
|
|
2017
|
100 |
4 |
p. 571-580
10 p.
|
artikel
|
| 5 |
Functional Architectures of Local and Distal Regulation of Gene Expression in Multiple Human Tissues
|
Liu, Xuanyao
|
|
2017
|
100 |
4 |
p. 605-616
12 p.
|
artikel
|
| 6 |
Human Demographic History Impacts Genetic Risk Prediction across Diverse Populations
|
Martin, Alicia R.
|
|
2017
|
100 |
4 |
p. 635-649
15 p.
|
artikel
|
| 7 |
Large-Scale trans-eQTLs Affect Hundreds of Transcripts and Mediate Patterns of Transcriptional Co-regulation
|
Brynedal, Boel
|
|
2017
|
100 |
4 |
p. 581-591
11 p.
|
artikel
|
| 8 |
Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex Congenita
|
Xue, Shifeng
|
|
2017
|
100 |
4 |
p. 659-665
7 p.
|
artikel
|
| 9 |
Modeling the Mutational and Phenotypic Landscapes of Pelizaeus-Merzbacher Disease with Human iPSC-Derived Oligodendrocytes
|
Nevin, Zachary S.
|
|
2017
|
100 |
4 |
p. 617-634
18 p.
|
artikel
|
| 10 |
Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies
|
Xu, Mingchu
|
|
2017
|
100 |
4 |
p. 592-604
13 p.
|
artikel
|
| 11 |
Mutations in TMEM260 Cause a Pediatric Neurodevelopmental, Cardiac, and Renal Syndrome
|
Ta-Shma, Asaf
|
|
2017
|
100 |
4 |
p. 666-675
10 p.
|
artikel
|
| 12 |
This Month in Genetics
|
Garber, Kathryn B.
|
|
2017
|
100 |
4 |
p. 569-570
2 p.
|
artikel
|
| 13 |
This Month in The Journal
|
Ratzel, Sarah
|
|
2017
|
100 |
4 |
p. 567-568
2 p.
|
artikel
|
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