Detalhe da pesquisa
1.
Monozygotic twins discordant for a congenital cranial dysinnervation disorder with features of Moebius syndrome.
Am J Med Genet A
; 191(11): 2743-2748, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37675855
2.
Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.
Genet Med
; 21(3): 764-765, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30275510
3.
Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.
Genet Med
; 21(4): 867-876, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30190611
4.
Genotype-phenotype correlations in individuals with pathogenic RERE variants.
Hum Mutat
; 39(5): 666-675, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29330883
5.
A New Approach to Rare Diseases of Children: The Undiagnosed Diseases Network.
J Pediatr
; 196: 291-297.e2, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29331327
6.
Semaphorin-Plexin Signaling: From Axonal Guidance to a New X-Linked Intellectual Disability Syndrome.
Pediatr Neurol
; 126: 65-73, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34740135