Detalhe da pesquisa
1.
Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature.
J Inherit Metab Dis
; 43(6): 1321-1332, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32588908
2.
PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights.
Brain
; 142(3): 542-559, 2019 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30668673
3.
Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy.
Hum Mol Genet
; 26(9): 1706-1715, 2017 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28334793
4.
Mature male parr contribution to the effective size of an anadromous Atlantic salmon (Salmo salar) population over 30 years.
Mol Ecol
; 22(9): 2394-407, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23317429
5.
Expanding the Phenotypic Spectrum of GPI Anchoring Deficiency Due to Biallelic Variants in GPAA1.
Neurol Genet
; 7(6): e631, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34703884
6.
High-throughput DNA Extraction and Genotyping of 3dpf Zebrafish Larvae by Fin Clipping.
J Vis Exp
; (136)2018 06 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-30010654
7.
A bridge too far: are thrombolytics warranted as pre-treatment for endovascular therapy in acute ischemic stroke?
Intern Emerg Med
; 17(5): 1517-1519, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35508688