Detalhe da pesquisa
1.
Comprehensive characterization of a Canadian cohort of von Hippel-Lindau disease patients.
Clin Genet
; 96(5): 461-467, 2019 11.
Artigo
Inglês
| MEDLINE | ID: mdl-31368132
2.
Outcome of Patients With Inherited Neurotransmitter Disorders.
Can J Neurol Sci
; 45(5): 571-576, 2018 09.
Artigo
Inglês
| MEDLINE | ID: mdl-30109838
3.
A brain precursor atlas reveals the acquisition of developmental-like states in adult cerebral tumours.
Nat Commun
; 13(1): 4178, 2022 07 19.
Artigo
Inglês
| MEDLINE | ID: mdl-35853870
4.
Outcomes of patients with cobalamin C deficiency: A single center experience.
JIMD Rep
; 57(1): 102-114, 2021 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-33473346
5.
Genetic landscape of pediatric movement disorders and management implications.
Neurol Genet
; 4(5): e265, 2018 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-30283815
6.
Preventive medicine of von Hippel-Lindau disease-associated pancreatic neuroendocrine tumors.
Endocr Relat Cancer
; 25(9): 783-793, 2018 09.
Artigo
Inglês
| MEDLINE | ID: mdl-29748190
7.
A New Patient With Intermediate Severe Salla Disease With Hypomyelination: A Literature Review for Salla Disease.
Pediatr Neurol
; 74: 87-91.e2, 2017 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-28662915
8.
Characterization of the first knock-out aldh7a1 zebrafish model for pyridoxine-dependent epilepsy using CRISPR-Cas9 technology.
PLoS One
; 12(10): e0186645, 2017.
Artigo
Inglês
| MEDLINE | ID: mdl-29053735