Detalhe da pesquisa
1.
Real-life survey of pitfalls and successes of precision medicine in genetic epilepsies.
J Neurol Neurosurg Psychiatry
; 92(10): 1044-1052, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33903184
2.
GNAQ/GNA11 Mosaicism Is Associated with Abnormal Serum Calcium Indices and Microvascular Neurocalcification.
J Invest Dermatol
; 144(4): 820-832.e9, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37802294
3.
Late diagnoses of Dravet syndrome: How many individuals are we missing?
Epilepsia Open
; 6(4): 770-776, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34268891
4.
Moyamoya and progressive myoclonic epilepsy secondary to CLN6 bi-allelic mutations - A previously unreported association.
Epilepsy Behav Rep
; 14: 100389, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33024953
5.
Congenital hyperinsulinism due to compound heterozygous mutations in ABCC8 responsive to diazoxide therapy.
J Pediatr Endocrinol Metab
; 33(5): 671-674, 2020 May 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-32267248