Detalhe da pesquisa
1.
Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome.
Genet Med
; 21(9): 2025-2035, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30723320
2.
Efficacy of low dose nitisinone in the management of alkaptonuria.
Mol Genet Metab
; 127(3): 184-190, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31235217
3.
MAST1-related mega-corpus-callosum syndrome with central hypogonadism.
Eur J Med Genet
; 66(11): 104853, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37758169
4.
Atypical phenotype of a patient with Bardet-Biedl syndrome type 4.
Mol Genet Genomic Med
; 10(5): e1869, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35318824
5.
Deletion of chr7p22 and chr15q11: Two Familial Cases of Immune Deficiency: Extending the Phenotype Toward Dysimmunity.
Front Immunol
; 10: 1871, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31474980
6.
Potassium channel openers increase aortic elastic fiber formation and reverse the genetically determined elastin deficit in the BN rat.
Hypertension
; 62(4): 794-801, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23918751
7.
Fatty acids impair endothelium-dependent vasorelaxation: a link between obesity and arterial stiffness in very old Zucker rats.
J Gerontol A Biol Sci Med Sci
; 67(9): 927-38, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22389459