| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A Dominantly Inherited 5′ UTR Variant Causing Methylation-Associated Silencing of BRCA1 as a Cause of Breast and Ovarian Cancer
|
Evans, D.Gareth R.
|
|
|
103 |
2 |
p. 213-220
|
artikel
|
| 2 |
An eQTL Landscape of Kidney Tissue in Human Nephrotic Syndrome
|
Gillies, Christopher E.
|
|
|
103 |
2 |
p. 232-244
|
artikel
|
| 3 |
Argininosuccinate Lyase Deficiency Causes an Endothelial-Dependent Form of Hypertension
|
Kho, Jordan
|
|
|
103 |
2 |
p. 276-287
|
artikel
|
| 4 |
Bi-allelic Loss-of-Function Mutations in the NPR-C Receptor Result in Enhanced Growth and Connective Tissue Abnormalities
|
Boudin, Eveline
|
|
|
103 |
2 |
p. 288-295
|
artikel
|
| 5 |
Bi-allelic Recessive Loss-of-Function Variants in FANCM Cause Non-obstructive Azoospermia
|
Kasak, Laura
|
|
|
103 |
2 |
p. 200-212
|
artikel
|
| 6 |
De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder
|
Gregor, Anne
|
|
|
103 |
2 |
p. 305-316
|
artikel
|
| 7 |
Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles
|
Coban-Akdemir, Zeynep
|
|
|
103 |
2 |
p. 171-187
|
artikel
|
| 8 |
IRF2BPL Is Associated with Neurological Phenotypes
|
Marcogliese, Paul C.
|
|
|
103 |
2 |
p. 245-260
|
artikel
|
| 9 |
Mutations in LNPK, Encoding the Endoplasmic Reticulum Junction Stabilizer Lunapark, Cause a Recessive Neurodevelopmental Syndrome
|
Breuss, Martin W.
|
|
|
103 |
2 |
p. 296-304
|
artikel
|
| 10 |
Mutations in PMFBP1 Cause Acephalic Spermatozoa Syndrome
|
Zhu, Fuxi
|
|
|
103 |
2 |
p. 188-199
|
artikel
|
| 11 |
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder
|
Martin, Carol-Anne
|
|
|
103 |
2 |
p. 221-231
|
artikel
|
| 12 |
Selection Has Countered High Mutability to Preserve the Ancestral Copy Number of Y Chromosome Amplicons in Diverse Human Lineages
|
Teitz, Levi S.
|
|
|
103 |
2 |
p. 261-275
|
artikel
|
| 13 |
This Month in The Journal
|
Ratzel, Sarah
|
|
|
103 |
2 |
p. 169-170
|
artikel
|
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