| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A commonly occurring genetic variant within the NPLOC4–TSPAN10–PDE6G gene cluster is associated with the risk of strabismus
|
Plotnikov, Denis
|
|
2019
|
138 |
7 |
p. 723-737
|
artikel
|
| 2 |
Correction to: Genetic variant predictors of gene expression provide new insight into risk of colorectal cancer
|
Bien, Stephanie A.
|
|
2019
|
138 |
7 |
p. 789-791
|
artikel
|
| 3 |
Estimation of metabolic syndrome heritability in three large populations including full pedigree and genomic information
|
Graziano, Francesca
|
|
2019
|
138 |
7 |
p. 739-748
|
artikel
|
| 4 |
Exome sequencing of cases with neural tube defects identifies candidate genes involved in one-carbon/vitamin B12 metabolisms and Sonic Hedgehog pathway
|
Renard, Emeline
|
|
2019
|
138 |
7 |
p. 703-713
|
artikel
|
| 5 |
Jürgen W. Spranger, Paula W. Brill, Christine Hall, Gen Nishimura, Andrea Superti-Furga, and Sheila Unger: Bone dysplasias: an atlas of genetic disorders of skeletal development
|
Smithson, Sarah
|
|
2019
|
138 |
7 |
p. 787
|
artikel
|
| 6 |
Mind the gap: resources required to receive, process and interpret research-returned whole genome data
|
Crawford, Dana C.
|
|
2019
|
138 |
7 |
p. 691-701
|
artikel
|
| 7 |
Misassembly of long reads undermines de novo-assembled ethnicity-specific genomes: validation in a Chinese Han population
|
Mai, Zhibiao
|
|
2019
|
138 |
7 |
p. 757-769
|
artikel
|
| 8 |
Observation of novel COX20 mutations related to autosomal recessive axonal neuropathy and static encephalopathy
|
Xu, Hongliang
|
|
2019
|
138 |
7 |
p. 749-756
|
artikel
|
| 9 |
Paired involvement of human-specific Olduvai domains and NOTCH2NL genes in human brain evolution
|
Fiddes, Ian T.
|
|
2019
|
138 |
7 |
p. 715-721
|
artikel
|
| 10 |
Skipping of an exon with a nonsense mutation in the DMD gene is induced by the conversion of a splicing enhancer to a splicing silencer
|
Zhu, Yanrong
|
|
2019
|
138 |
7 |
p. 771-785
|
artikel
|
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