Detalhe da pesquisa
1.
Contribution of whole genome sequencing in the molecular diagnosis of mosaic partial deletion of the NF1 gene in neurofibromatosis type 1.
Hum Genet
; 142(1): 1-9, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-35941319
2.
Droplet Digital PCR for Fast and Accurate Characterization of NF1 Locus Deletions: Confirmation of the Predominant Maternal Origin of Type-1 Deletions.
J Mol Diagn
; 26(2): 150-157, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38008284
3.
Hemiplegic Migraine Associated With PRRT2 Variations: A Clinical and Genetic Study.
Neurology
; 98(1): e51-e61, 2022 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34649875
4.
Severe Phenotype in Patients with Large Deletions of NF1.
Cancers (Basel)
; 13(12)2021 Jun 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-34199217
5.
PRRT2 mutations cause hemiplegic migraine.
Neurology
; 79(21): 2122-4, 2012 Nov 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-23077016