Detalhe da pesquisa
1.
Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies.
Hum Mutat
; 39(1): 152-166, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29068549
2.
An inactivating mutation in intestinal cell kinase, ICK, impairs hedgehog signalling and causes short rib-polydactyly syndrome.
Hum Mol Genet
; 25(18): 3998-4011, 2016 09 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27466187
3.
Intervertebral disc degeneration is rescued by TGFß/BMP signaling modulation in an ex vivo filamin B mouse model.
Bone Res
; 10(1): 37, 2022 Apr 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-35474298
4.
Standardizing Preoperative Evaluation for Pediatric Central Venous Access: A Care Algorithm to Improve Safety.
J Infus Nurs
; 43(5): 262-274, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32881813
5.
A postnatal role for embryonic myosin revealed by MYH3 mutations that alter TGFß signaling and cause autosomal dominant spondylocarpotarsal synostosis.
Sci Rep
; 7: 41803, 2017 02 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-28205584
6.
Destabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a Spectrum of Short-Rib Polydactyly Syndrome.
Sci Rep
; 6: 34232, 2016 Sep 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-27666822