Detalhe da pesquisa
1.
Genetic newborn screening and digital technologies: A project protocol based on a dual approach to shorten the rare diseases diagnostic path in Europe.
PLoS One
; 18(11): e0293503, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37992053
2.
Smoking but not homozygosity for CYP1A2 g-163A allelic variant leads to earlier disease onset in patients with sporadic porphyria cutanea tarda.
Exp Dermatol
; 19(8): e326-8, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20163457
3.
Outcome of twin babies free of Von Hippel-Lindau disease after a double-factor preimplantation genetic diagnosis: monogenetic mutation analysis and comprehensive aneuploidy screening.
Fertil Steril
; 91(3): 933.e1-7, 2009 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-19135659