| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Biallelic pathogenic variants in the mitochondrial form of phosphoenolpyruvate carboxykinase cause peripheral neuropathy
|
Sondheimer, Neal
|
|
|
4 |
2 |
p.
|
artikel
|
| 2 |
Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14
|
Jackson, Adam
|
|
|
4 |
2 |
p.
|
artikel
|
| 3 |
Community partnerships are fundamental to ethical ancient DNA research
|
Kowal, Emma
|
|
|
4 |
2 |
p.
|
artikel
|
| 4 |
Guidelines for genetic ancestry inference created through roundtable discussions
|
Wagner, Jennifer K.
|
|
|
4 |
2 |
p.
|
artikel
|
| 5 |
Low and differential polygenic score generalizability among African populations due largely to genetic diversity
|
Majara, Lerato
|
|
|
4 |
2 |
p.
|
artikel
|
| 6 |
Polygenic risk scores and kidney traits in the Hispanic/Latino population: The Hispanic Community Health Study/Study of Latinos
|
Zhou, Laura Y.
|
|
|
4 |
2 |
p.
|
artikel
|
| 7 |
Rare missense variants in the SH3 domain of PSTPIP1 are associated with hidradenitis suppurativa
|
Morales-Heil, David J.
|
|
|
4 |
2 |
p.
|
artikel
|
| 8 |
Splicing annotation of endometrial cancer GWAS risk loci reveals potentially causal variants and supports a role for NF1 and SKAP1 as susceptibility genes
|
Canson, Daffodil M.
|
|
|
4 |
2 |
p.
|
artikel
|
| 9 |
The influence of NUDT15 variants on 6-mercaptopurine-induced neutropenia in Vietnamese pediatric acute lymphoblastic leukemia
|
Nguyen, Mai-Lan
|
|
|
4 |
2 |
p.
|
artikel
|
| 10 |
Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction
|
Reurink, Janine
|
|
|
4 |
2 |
p.
|
artikel
|
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