Detalhe da pesquisa
1.
Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant.
Brain
; 147(6): 1967-1974, 2024 Jun 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38478578
2.
Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15.
Hum Mol Genet
; 28(17): 2900-2919, 2019 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31127942
3.
Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15.
Hum Mol Genet
; 29(5): 877-878, 2020 03 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-32027362
4.
Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial.
JAMA Pediatr
; 178(6): 540-547, 2024 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38587854
5.
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.
Nat Genet
; 47(1): 39-46, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25401298