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1.
Early insights into the role of Exoc6B associated with spondyloepimetaphyseal dysplasia with joint laxity type 3 in primary ciliogenesis and chondrogenic differentiation in vitro.
Mol Biol Rep
; 51(1): 274, 2024 Feb 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-38305850
2.
The intraflagellar transport protein IFT52 associated with short-rib thoracic dysplasia is essential for ciliary function in osteogenic differentiation in vitro and for sensory perception in Drosophila.
Exp Cell Res
; 418(2): 113273, 2022 09 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-35839863
3.
Bi-allelic missense variant, p.Ser35Leu in EXOSC1 is associated with pontocerebellar hypoplasia.
Clin Genet
; 99(4): 594-600, 2021 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-33463720
4.
Characterization of primary cilia features reveal cell-type specific variability in in vitro models of osteogenic and chondrogenic differentiation.
PeerJ
; 8: e9799, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-32884864
5.
Recurrent 1q21.1 deletion syndrome: report on variable expression, nonpenetrance and review of literature.
Clin Dysmorphol
; 29(3): 127-131, 2020 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-32459673
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