| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Analysis of implantation and ongoing pregnancy rates following the transfer of mosaic diploid–aneuploid blastocysts
|
Fragouli, Elpida
|
|
2017
|
136 |
7 |
p. 805-819
|
artikel
|
| 2 |
An innovative strategy to clone positive modifier genes of defects caused by mtDNA mutations: MRPS18C as suppressor gene of m.3946G>A mutation in MT-ND1 gene
|
Rodríguez-García, María Elena
|
|
2017
|
136 |
7 |
p. 885-896
|
artikel
|
| 3 |
A rare variant in the FHL1 gene associated with X-linked recessive hypoparathyroidism
|
Pillar, Nir
|
|
2017
|
136 |
7 |
p. 835-845
|
artikel
|
| 4 |
A recessive mutation in beta-IV-spectrin (SPTBN4) associates with congenital myopathy, neuropathy, and central deafness
|
Knierim, Ellen
|
|
2017
|
136 |
7 |
p. 903-910
|
artikel
|
| 5 |
Assessing the causal relationship between obesity and venous thromboembolism through a Mendelian Randomization study
|
Lindström, Sara
|
|
2017
|
136 |
7 |
p. 897-902
|
artikel
|
| 6 |
Comprehensive evaluation of disease- and trait-specific enrichment for eight functional elements among GWAS-identified variants
|
Markunas, Christina A.
|
|
2017
|
136 |
7 |
p. 911-919
|
artikel
|
| 7 |
CRISPR/Cas9-mediated somatic and germline gene correction to restore hemostasis in hemophilia B mice
|
Huai, Cong
|
|
2017
|
136 |
7 |
p. 875-883
|
artikel
|
| 8 |
Erratum to: Global skin colour prediction from DNA
|
Walsh, Susan
|
|
2017
|
136 |
7 |
p. 865-866
|
artikel
|
| 9 |
Global skin colour prediction from DNA
|
Walsh, Susan
|
|
2017
|
136 |
7 |
p. 847-863
|
artikel
|
| 10 |
Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability
|
Bramswig, Nuria C.
|
|
2017
|
136 |
7 |
p. 821-834
|
artikel
|
| 11 |
Somatic mosaicism with reversion to normality of a mutated transthyretin allele related to a familial amyloidotic polyneuropathy
|
Federico, Concetta
|
|
2017
|
136 |
7 |
p. 867-873
|
artikel
|
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