Detalhe da pesquisa
1.
Microcephalic osteodysplastic primordial dwarfism type II: Additional nine patients with implications on phenotype and genotype correlation.
Am J Med Genet A
; 182(6): 1407-1420, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32267100
2.
Papillon-Lefevre syndrome in twelve Egyptian patients: Five novel CTSC variants and functional characterization of a missense variant and its effect on splicing.
Arch Oral Biol
; 158: 105869, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38104461
3.
Gene Mutations of the Three Ectodysplasin Pathway Key Players (EDA, EDAR, and EDARADD) Account for More than 60% of Egyptian Ectodermal Dysplasia: A Report of Seven Novel Mutations.
Genes (Basel)
; 12(9)2021 09 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34573371