| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
CGG repeat expansion in LOC642361/NUTM2B-AS1 typically presents as oculopharyngodistal myopathy
|
Shi, Yan
|
|
|
51 |
2 |
p. 184-196
|
artikel
|
| 2 |
Correction of a CADASIL point mutation using adenine base editors in hiPSCs and blood vessel organoids
|
Wang, Jingwen
|
|
|
51 |
2 |
p. 197-207
|
artikel
|
| 3 |
Current therapies for osteoarthritis and prospects of CRISPR-based genome, epigenome, and RNA editing in osteoarthritis treatment
|
Chen, Yuxi
|
|
|
51 |
2 |
p. 159-183
|
artikel
|
| 4 |
enOsCas12f1-mediated exon skipping for Duchenne muscular dystrophy therapy in humanized mouse model
|
Jin, Ming
|
|
|
51 |
2 |
p. 256-259
|
artikel
|
| 5 |
Exploring noncoding variants in genetic diseases: from detection to functional insights
|
Wu, Ke
|
|
|
51 |
2 |
p. 111-132
|
artikel
|
| 6 |
GeMemiOM: the curated database on genes, putative methylation study targets, and microRNA targets for otitis media
|
Abhishek, Kondyarpu
|
|
|
51 |
2 |
p. 260-263
|
artikel
|
| 7 |
Gene therapy for monogenic disorders: challenges, strategies, and perspectives
|
Zhang, Yi
|
|
|
51 |
2 |
p. 133-143
|
artikel
|
| 8 |
NCAD v1.0: a database for non-coding variant annotation and interpretation
|
Feng, Xiaoshu
|
|
|
51 |
2 |
p. 230-242
|
artikel
|
| 9 |
PICOTEES: a privacy-preserving online service of phenotype exploration for genetic-diagnostic variants from Chinese children cohorts
|
Dong, Xinran
|
|
|
51 |
2 |
p. 243-251
|
artikel
|
| 10 |
Rare loss-of-function variants in FLNB cause non-syndromic orofacial clefts
|
Huang, Wenbin
|
|
|
51 |
2 |
p. 222-229
|
artikel
|
| 11 |
Rare variants in FANCJ induce premature ovarian insufficiency in humans and mice
|
Yang, Xi
|
|
|
51 |
2 |
p. 252-255
|
artikel
|
| 12 |
The m6A reader YTHDC2 maintains visual function and retinal photoreceptor survival through modulating translation of PPEF2 and PDE6B
|
Yang, Yeming
|
|
|
51 |
2 |
p. 208-221
|
artikel
|
| 13 |
Unraveling the complexity of polycystic ovary syndrome with animal models
|
Liu, Huanju
|
|
|
51 |
2 |
p. 144-158
|
artikel
|
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