| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotype
|
Smith, Thomas B.
|
|
|
112 |
1 |
p. 59-74
|
artikel
|
| 2 |
Chromosome X-wide common variant association study in autism spectrum disorder
|
Mendes, Marla
|
|
|
112 |
1 |
p. 135-153
|
artikel
|
| 3 |
Demographic history and genetic variation of the Armenian population
|
Hovhannisyan, Anahit
|
|
|
112 |
1 |
p. 11-27
|
artikel
|
| 4 |
DNA methylation-based predictors of metabolic traits in Scottish and Singaporean cohorts
|
Smith, Hannah M.
|
|
|
112 |
1 |
p. 106-115
|
artikel
|
| 5 |
EEFSEC deficiency: A selenopathy with early-onset neurodegeneration
|
Laugwitz, Lucia
|
|
|
112 |
1 |
p. 168-180
|
artikel
|
| 6 |
Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus
|
Scala, Marcello
|
|
|
112 |
1 |
p. 154-167
|
artikel
|
| 7 |
Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability
|
Sabeh, Pascale
|
|
|
112 |
1 |
p. 75-86
|
artikel
|
| 8 |
Leveraging diverse genomic data to guide equitable carrier screening: Insights from gnomAD v.4.1.0
|
Schmitz, Matthew J.
|
|
|
112 |
1 |
p. 181-195
|
artikel
|
| 9 |
Mendelian genetics and eugenics
|
Bodmer, Walter F.
|
|
|
112 |
1 |
p. 196-197
|
artikel
|
| 10 |
Pan-cancer analysis reveals age-associated genetic alterations in protein domains
|
Zou, Haozhe
|
|
|
112 |
1 |
p. 44-58
|
artikel
|
| 11 |
Response to Bodmer and Charlesworth: Mendelian genetics and eugenics
|
Rutherford, Adam
|
|
|
112 |
1 |
p. 198
|
artikel
|
| 12 |
Systematic functional characterization of non-coding regulatory SNPs associated with central obesity
|
Dong, Shan-Shan
|
|
|
112 |
1 |
p. 116-134
|
artikel
|
| 13 |
TEMR: Trans-ethnic mendelian randomization method using large-scale GWAS summary datasets
|
Hou, Lei
|
|
|
112 |
1 |
p. 28-43
|
artikel
|
| 14 |
This month in The Journal
|
Barnes, Alyson B.
|
|
|
112 |
1 |
p. 1-2
|
artikel
|
| 15 |
Variants in EP400, encoding a chromatin remodeler, cause epilepsy with neurodevelopmental disorders
|
Luo, Sheng
|
|
|
112 |
1 |
p. 87-105
|
artikel
|
| 16 |
When “loss-of-function” means proteostasis burden: Thinking again about coding DNA variants
|
Shovlin, Claire L.
|
|
|
112 |
1 |
p. 3-10
|
artikel
|
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