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1.
TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila.
Am J Hum Genet
; 108(9): 1669-1691, 2021 09 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-34314705
2.
Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity.
Nat Genet
; 48(8): 877-87, 2016 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-27399968
3.
Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature.
Eur J Hum Genet
; 25(1): 43-51, 2016 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-27804958
4.
Novel membrane frizzled-related protein gene mutation as cause of posterior microphthalmia resulting in high hyperopia with macular folds.
Acta Ophthalmol
; 92(3): 276-81, 2014 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-23742260
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