Detalhe da pesquisa
1.
A recurrent homozygous missense DPM3 variant leads to muscle and brain disease.
Clin Genet
; 102(6): 530-536, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35932216
2.
5-Alpha reductase deficiency; an important cause of 46, XY DSD: Report of three cases within a family.
Clin Case Rep
; 11(5): e7269, 2023 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-37180321
3.
Response to sapropterin hydrochloride (Kuvan®) in children with phenylketonuria (PKU): a clinical trial.
J Pediatr Endocrinol Metab
; 32(8): 885-888, 2019 Aug 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-31237861
4.
Novel DNA variation of GPR54 gene in familial central precocious puberty.
Ital J Pediatr
; 45(1): 10, 2019 Jan 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30635063
5.
The Report of Three Rare Cases of the Niemann-pick Disease in Birjand, South Khorasan, Eastern Iran.
Iran J Child Neurol
; 11(3): 53-56, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28883878