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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. 2023 Nov 22;18(11):e0293503. doi: 10.1371/journal.pone.0293503. eCollection 2023.
PLoS One. 2023.
PMID: 37992053
Free PMC article.
Rare diseases' genetic newborn screening as the gateway to future genomic medicine: the Screen4Care EU-IMI project.
Ferlini A, Gross ES, Garnier N; Screen4Care consortium.
Ferlini A, et al.
Orphanet J Rare Dis. 2023 Oct 4;18(1):310. doi: 10.1186/s13023-023-02916-x.
Orphanet J Rare Dis. 2023.
PMID: 37794437
Free PMC article.
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Smoking but not homozygosity for CYP1A2 g-163A allelic variant leads to earlier disease onset in patients with sporadic porphyria cutanea tarda.
Fontanellas A, Martínez-Fresno M, Garrido-Astray MC, Perucho T, Morán-Jiménez MJ, García-Bravo M, Méndez M, Poblete-Gutiérrez P, Frank J, Henriques-Gil N, de Salamanca RE.
Fontanellas A, et al. Among authors: martinez fresno m.
Exp Dermatol. 2010 Aug;19(8):e326-8. doi: 10.1111/j.1600-0625.2009.01040.x.
Exp Dermatol. 2010.
PMID: 20163457
Free article.
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Outcome of twin babies free of Von Hippel-Lindau disease after a double-factor preimplantation genetic diagnosis: monogenetic mutation analysis and comprehensive aneuploidy screening.
Obradors A, Fernández E, Rius M, Oliver-Bonet M, Martínez-Fresno M, Benet J, Navarro J.
Obradors A, et al. Among authors: martinez fresno m.
Fertil Steril. 2009 Mar;91(3):933.e1-7. doi: 10.1016/j.fertnstert.2008.11.013. Epub 2009 Jan 10.
Fertil Steril. 2009.
PMID: 19135659
Free article.
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