Detalhe da pesquisa
1.
Characteristics of Liver Disease in 100 Individuals With Joubert Syndrome Prospectively Evaluated at a Single Center.
J Pediatr Gastroenterol Nutr
; 66(3): 428-435, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29112083
2.
Joubert syndrome: neuroimaging findings in 110 patients in correlation with cognitive function and genetic cause.
J Med Genet
; 54(8): 521-529, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28087721
3.
Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency.
Hum Genet
; 136(4): 399-408, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28220259
4.
Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center.
Genet Med
; 19(8): 875-882, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28125082
5.
CELSR2, encoding a planar cell polarity protein, is a putative gene in Joubert syndrome with cortical heterotopia, microophthalmia, and growth hormone deficiency.
Am J Med Genet A
; 173(3): 661-666, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-28052552
6.
Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes.
J Med Genet
; 52(12): 830-9, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26386044