Detalhe da pesquisa
1.
Multidisciplinary neurofibromatosis conference in the management of patients with neurofibromatosis type 1 and schwannomatosis in a single tertiary care institution.
Skeletal Radiol
; 53(5): 909-916, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-37950060
2.
The natural history of OTOF-related auditory neuropathy spectrum disorders: a multicenter study.
Hum Genet
; 141(3-4): 853-863, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-34424407
3.
Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities.
Genet Med
; 23(7): 1234-1245, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33824499
4.
De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features.
J Med Genet
; 57(12): 808-819, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32409512
5.
Growth hormone deficiency, aortic dilation, and neurocognitive issues in Feingold syndrome 2.
Am J Med Genet A
; 179(3): 410-416, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30672094
6.
Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic features.
Am J Med Genet A
; 179(7): 1276-1286, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31124279
7.
Pitfalls in the Diagnosis of Hereditary Fructose Intolerance.
Pediatrics
; 146(2)2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32709737
8.
Relapsing-remitting clinical course expands the phenotype of Aicardi-Goutières syndrome.
Ann Clin Transl Neurol
; 7(2): 254-258, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31920009
9.
Xia-Gibbs syndrome in adulthood: a case report with insight into the natural history of the condition.
Cold Spring Harb Mol Case Stud
; 5(3)2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30622101
10.
Plexiform neurofibroma of the liver, with malignant transformation to MPNST, in a pediatric patient without neurofibromatosis type 1.
Neurooncol Adv
; 5(1): vdad125, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37841697