| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Application of CRISPR/Cas9 technologies combined with iPSCs in the study and treatment of retinal degenerative diseases
|
Cai, Bincui
|
|
2018
|
137 |
9 |
p. 679-688
|
artikel
|
| 2 |
Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)
|
Bramswig, Nuria C.
|
|
2018
|
137 |
9 |
p. 753-768
|
artikel
|
| 3 |
Genome-wide investigation of an ID cohort reveals de novo 3′UTR variants affecting gene expression
|
Devanna, Paolo
|
|
2018
|
137 |
9 |
p. 717-721
|
artikel
|
| 4 |
Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis
|
Du, Renqian
|
|
2018
|
137 |
9 |
p. 689-703
|
artikel
|
| 5 |
Multiplexed assays of variant effects contribute to a growing genotype–phenotype atlas
|
Weile, Jochen
|
|
2018
|
137 |
9 |
p. 665-678
|
artikel
|
| 6 |
Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability
|
Santos-Cortez, Regie Lyn P.
|
|
2018
|
137 |
9 |
p. 735-752
|
artikel
|
| 7 |
Rare coding variant analysis in a large cohort of Ashkenazi Jewish families with inflammatory bowel disease
|
Schiff, E. R.
|
|
2018
|
137 |
9 |
p. 723-734
|
artikel
|
| 8 |
Whole-exome sequencing identifies rare genetic variations in German families with pulmonary sarcoidosis
|
Kishore, Amit
|
|
2018
|
137 |
9 |
p. 705-716
|
artikel
|
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