Detalhe da pesquisa
1.
Secondary biogenic amine deficiencies: genetic etiology, therapeutic interventions, and clinical effects.
Neurogenetics
; 22(4): 251-262, 2021 10.
Artigo
Inglês
| MEDLINE | ID: mdl-34213677
2.
The cost trajectory of the diagnostic care pathway for children with suspected genetic disorders.
Genet Med
; 22(2): 292-300, 2020 02.
Artigo
Inglês
| MEDLINE | ID: mdl-31462755
3.
Atypical cerebral palsy: genomics analysis enables precision medicine.
Genet Med
; 21(7): 1621-1628, 2019 07.
Artigo
Inglês
| MEDLINE | ID: mdl-30542205
4.
The genotypic and phenotypic spectrum of MTO1 deficiency.
Mol Genet Metab
; 123(1): 28-42, 2018 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29331171
5.
Structural and Functional Impact of Damaging Nonsynonymous Single Nucleotide Polymorphisms (nsSNPs) on Human VPS35 Protein Using Computational Approaches.
IEEE/ACM Trans Comput Biol Bioinform
; 19(6): 3715-3724, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-34613918
6.
Beyond sequencing: re-visiting annotations for PJL as a test case.
BMC Res Notes
; 12(1): 467, 2019 Jul 31.
Artigo
Inglês
| MEDLINE | ID: mdl-31366397
7.
Pyridoxine-Dependent Epilepsy: An Expanding Clinical Spectrum.
Pediatr Neurol
; 59: 6-12, 2016 06.
Artigo
Inglês
| MEDLINE | ID: mdl-26995068