| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Advocating for Genetics and Genomics Research to Policymakers
|
|
|
|
106 |
2 |
p. 141-142
|
artikel
|
| 2 |
Allele-Specific QTL Fine Mapping with PLASMA
|
Wang, Austin T.
|
|
|
106 |
2 |
p. 170-187
|
artikel
|
| 3 |
A Multi-tissue Transcriptome Analysis of Human Metabolites Guides Interpretability of Associations Based on Multi-SNP Models for Gene Expression
|
Ndungu, Anne
|
|
|
106 |
2 |
p. 188-201
|
artikel
|
| 4 |
Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities
|
Wagner, Matias
|
|
|
106 |
2 |
p. 246-255
|
artikel
|
| 5 |
Bi-allelic Variants in TKFC Encoding Triokinase/FMN Cyclase Are Associated with Cataracts and Multisystem Disease
|
Wortmann, Saskia B.
|
|
|
106 |
2 |
p. 256-263
|
artikel
|
| 6 |
Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency
|
Beck, David B.
|
|
|
106 |
2 |
p. 234-245
|
artikel
|
| 7 |
Enhancer Domains Predict Gene Pathogenicity and Inform Gene Discovery in Complex Disease
|
Wang, Xinchen
|
|
|
106 |
2 |
p. 215-233
|
artikel
|
| 8 |
Genome-wide Association Study Identifies HLA-DPB1 as a Significant Risk Factor for Severe Aplastic Anemia
|
Savage, Sharon A.
|
|
|
106 |
2 |
p. 264-271
|
artikel
|
| 9 |
Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism
|
Gunning, Adam C.
|
|
|
106 |
2 |
p. 272-279
|
artikel
|
| 10 |
The Biology of Cell-free DNA Fragmentation and the Roles of DNASE1, DNASE1L3, and DFFB
|
Han, Diana S.C.
|
|
|
106 |
2 |
p. 202-214
|
artikel
|
| 11 |
The Canadian Rare Diseases Models and Mechanisms (RDMM) Network: Connecting Understudied Genes to Model Organisms
|
Boycott, Kym M.
|
|
|
106 |
2 |
p. 143-152
|
artikel
|
| 12 |
This Month in The Journal
|
Ratzel, Sarah
|
|
|
106 |
2 |
p. 139-140
|
artikel
|
| 13 |
TTC12 Loss-of-Function Mutations Cause Primary Ciliary Dyskinesia and Unveil Distinct Dynein Assembly Mechanisms in Motile Cilia Versus Flagella
|
Thomas, Lucie
|
|
|
106 |
2 |
p. 153-169
|
artikel
|
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