Detalhe da pesquisa
1.
Genetic blueprint of congenital muscular dystrophies with brain malformations in Egypt: A report of 11 families.
Neurogenetics
; 25(2): 93-102, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38296890
2.
Lipoid proteinosis: Novel ECM1 pathogenic variants and intrafamilial variability in four unrelated Arab families.
Pediatr Dermatol
; 40(1): 113-119, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36670503
3.
A novel missense variant in the ATPase domain of ATP8A2 and review of phenotypic variability of ATP8A2 -related disorders caused by missense changes.
medRxiv
; 2024 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38798571
4.
Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders.
medRxiv
; 2024 Feb 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38405817