Detalhe da pesquisa
1.
The genotypic and phenotypic spectrum of pycnodysostosis in Saudi Arabia: Novel variants and clinical findings.
Am J Med Genet A
; 185(8): 2455-2463, 2021 08.
Artigo
Inglês
| MEDLINE | ID: mdl-33963797
2.
Expanding the phenome and variome of skeletal dysplasia.
Genet Med
; 20(12): 1609-1616, 2018 12.
Artigo
Inglês
| MEDLINE | ID: mdl-29620724
3.
A Novel De Novo Mutation of the DHX30 Gene in a Patient With Neurodevelopmental Disorder, Severe Motor Impairment, and Absent Language (NEDMIAL).
Cureus
; 15(1): e33682, 2023 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-36643085
4.
A Novel SCNN1A Variation in a Patient with Autosomal-recessive Pseudohypoaldosteronism Type 1
J Clin Res Pediatr Endocrinol
; 14(2): 244-250, 2022 06 07.
Artigo
Inglês
| MEDLINE | ID: mdl-33829730