Detalhe da pesquisa
1.
Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement.
Am J Hum Genet
; 109(9): 1692-1712, 2022 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36055214
2.
Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant.
Hum Mutat
; 39(3): 383-388, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29266598
3.
Expanding the phenotypic spectrum of CLCN2-related leucoencephalopathy and ataxia.
Brain Commun
; 6(1): fcad273, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38173802
4.
Case Report: ISG15 deficiency caused by novel variants in two families and effective treatment with Janus kinase inhibition.
Front Immunol
; 14: 1287258, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38115997
5.
Why Parental Education may be the Key to Raising the Digital Natives?
Indian Pediatr
; 61(1): 30-31, 2024 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38183248
6.
Sturge-Weber syndrome: from the past to the present.
Eur J Paediatr Neurol
; 18(3): 257-66, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24275166
7.
Cirrhosis associated with pyridoxal 5'-phosphate treatment of pyridoxamine 5'-phosphate oxidase deficiency.
JIMD Rep
; 17: 67-70, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25256445
8.
The new INCLEN diagnostic tool - a comment.
Indian Pediatr
; 51(6): 448-9, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24986278