Detalhe da pesquisa
1.
The clinical and genetic landscape of developmental and epileptic encephalopathies in Egyptian children.
Clin Genet
; 105(5): 510-522, 2024 05.
Artigo
Inglês
| MEDLINE | ID: mdl-38221827
2.
AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model.
Acta Neuropathol
; 146(2): 353-368, 2023 08.
Artigo
Inglês
| MEDLINE | ID: mdl-37119330
3.
Biallelic ZNFX1 variants are associated with a spectrum of immuno-hematological abnormalities.
Clin Genet
; 101(2): 247-254, 2022 02.
Artigo
Inglês
| MEDLINE | ID: mdl-34708404
4.
Urine Organic Acid Analysis: Key Diagnostic Test for Fumaric Aciduria in a Sri Lankan Child.
Lab Med
; 53(3): e48-e50, 2022 May 05.
Artigo
Inglês
| MEDLINE | ID: mdl-34643235
5.
Corrigendum to: Urine Organic Acid Analysis: Key Diagnostic Test for Fumaric Aciduria in a Sri Lankan Child.
Lab Med
; 53(3): e62, 2022 May 05.
Artigo
Inglês
| MEDLINE | ID: mdl-34730174
6.
[TRPC6 mutations in children with steroid-resistant nephrotic syndrome]. / Mutazioni nel gene TRPC6 in bambini affetti da sindrome nefrosica steroido-resistente.
G Ital Nefrol
; 28(4): 350-2, 2011.
Artigo
Italiano
| MEDLINE | ID: mdl-21809298
7.
In vitro residual activity of phenylalanine hydroxylase variants and correlation with metabolic phenotypes in PKU.
Gene
; 594(1): 138-143, 2016 Dec 05.
Artigo
Inglês
| MEDLINE | ID: mdl-27620137
8.
The first case of a small supernumerary marker chromosome derived from chromosome 10 in an adult woman with an apparently normal phenotype.
Syst Biol Reprod Med
; 61(6): 398-402, 2015.
Artigo
Inglês
| MEDLINE | ID: mdl-26270802
9.
Phenylalanine hydroxylase deficiency in south Italy: Genotype-phenotype correlations, identification of a novel mutant PAH allele and prediction of BH4 responsiveness.
Clin Chim Acta
; 450: 51-5, 2015 Oct 23.
Artigo
Inglês
| MEDLINE | ID: mdl-26210745
10.
Intra-familiar discordant PKU phenotype explained by mutation analysis in three pedigrees.
Clin Biochem
; 47(3): 233-5, 2014 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-24296287
11.
Novel AKAP9 mutation and long QT syndrome in a patient with torsades des pointes.
J Interv Card Electrophysiol
; 56(2): 171-172, 2019 11.
Artigo
Inglês
| MEDLINE | ID: mdl-31418098
12.
Mutation analysis in hyperphenylalaninemia patients from South Italy.
Clin Biochem
; 46(18): 1896-8, 2013 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-23792259
13.
Identification of ten novel mutations in factor VIII gene: A study of a cohort of 52 haemophilia A patients.
Thromb Res
; 135(5): 1031-4, 2015 May.
Artigo
Inglês
| MEDLINE | ID: mdl-25628142