| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A founder DBR1 variant causes a lethal form of congenital ichthyosis
|
Shamseldin, Hanan E.
|
|
|
142 |
10 |
p. 1491-1498
|
artikel
|
| 2 |
Assessing efficiency of fine-mapping obesity-associated variants through leveraging ancestry architecture and functional annotation using PAGE and UKBB cohorts
|
Anwar, Mohammad Yaser
|
|
|
142 |
10 |
p. 1477-1489
|
artikel
|
| 3 |
Breakpoints in complex chromosomal rearrangements correspond to transposase-accessible regions of DNA from mature sperm
|
Sugimoto, Takeshi
|
|
|
142 |
10 |
p. 1451-1460
|
artikel
|
| 4 |
CHD7 variants associated with hearing loss and enlargement of the vestibular aqueduct
|
Roux, Isabelle
|
|
|
142 |
10 |
p. 1499-1517
|
artikel
|
| 5 |
Colocalization of expression transcripts with COVID-19 outcomes is rare across cell states, cell types and organs
|
Willett, Julian Daniel Sunday
|
|
|
142 |
10 |
p. 1461-1476
|
artikel
|
| 6 |
Dyslexia-related loci are significantly associated with language and literacy in Chinese–English bilingual Hong Kong Chinese twins
|
Chung, Cheuk Yan
|
|
|
142 |
10 |
p. 1519-1529
|
artikel
|
| 7 |
Rare variant modifier analysis identifies variants in SEC24D associated with orofacial cleft subtypes
|
Curtis, Sarah W.
|
|
|
142 |
10 |
p. 1531-1541
|
artikel
|
| 8 |
The natural history, clinical outcomes, and genotype–phenotype relationship of otoferlin-related hearing loss: a systematic, quantitative literature review
|
Ford, Charles L.
|
|
|
142 |
10 |
p. 1429-1449
|
artikel
|
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