Detalhe da pesquisa
1.
Disorder of Sex Development Due to 17-Beta-Hydroxysteroid Dehydrogenase Type 3 Deficiency: A Case Report and Review of 70 Different HSD17B3 Mutations Reported in 239 Patients.
Int J Mol Sci
; 23(17)2022 Sep 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36077423
2.
A Novel FGFR1 Missense Mutation in a Portuguese Family with Congenital Hypogonadotropic Hypogonadism.
Int J Mol Sci
; 23(8)2022 Apr 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-35457241
3.
A Common Variant in the CDK8 Gene Is Associated with Sporadic Pituitary Adenomas in the Portuguese Population: A Case-Control Study.
Int J Mol Sci
; 23(19)2022 Oct 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36233050
4.
Hypoparathyroidism, deafness and renal dysplasia syndrome caused by a GATA3 splice site mutation leading to the activation of a cryptic splice site.
Front Endocrinol (Lausanne)
; 14: 1207425, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37600721
5.
Maturity-Onset Diabetes of the Young (MODY) in Portugal: Novel GCK, HNFA1 and HNFA4 Mutations.
J Clin Med
; 9(1)2020 Jan 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-31968686
6.
Association of Vitamin D Pathway Genetic Variation and Thyroid Cancer.
Genes (Basel)
; 10(8)2019 07 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-31357732
7.
GNRHR biallelic and digenic mutations in patients with normosmic congenital hypogonadotropic hypogonadism.
Endocr Connect
; 6(6): 360-366, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28611058