Detalhe da pesquisa
1.
De novo missense variants in RRAGC lead to a fatal mTORopathy of early childhood.
Genet Med
; 25(7): 100838, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37057673
2.
PCARE and WASF3 regulate ciliary F-actin assembly that is required for the initiation of photoreceptor outer segment disk formation.
Proc Natl Acad Sci U S A
; 117(18): 9922-9931, 2020 05 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32312818
3.
Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype.
Am J Hum Genet
; 101(5): 824-832, 2017 Nov 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29106825
4.
Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy.
Am J Hum Genet
; 95(2): 131-42, 2014 Aug 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-25018096
5.
Ciliopathies: Genetics in Pediatric Medicine.
J Pediatr Genet
; 6(1): 18-29, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-28180024
6.
Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrum.
Sci Rep
; 6: 34764, 2016 10 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27708425
7.
An organelle-specific protein landscape identifies novel diseases and molecular mechanisms.
Nat Commun
; 7: 11491, 2016 05 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-27173435