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Pre-implantation Genetic Testing in Inherited Metabolic Diseases? Stateof- the-art and current challenges.
Endocr Metab Immune Disord Drug Targets. 2023 Dec 18. doi: 10.2174/0118715303279986231211090830. Online ahead of print.
Endocr Metab Immune Disord Drug Targets. 2023.
PMID: 38111111
Case report: Mohr-Tranebjaerg syndrome: hearing impairment as the onset of an insidious disorder with high recurrence risk.
Sousa E, Abreu M, Tkachenko N, Rocha J, Falcão Reis C.
Sousa E, et al. Among authors: falcao reis c.
Front Neurol. 2023 Jun 1;14:1161940. doi: 10.3389/fneur.2023.1161940. eCollection 2023.
Front Neurol. 2023.
PMID: 37325222
Free PMC article.
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Acute Lymphoblastic Leukemia in a Pediatric Patient With Turnpenny-Fry Syndrome.
Patrício Rodrigues I, Teixeira B, Capela AM, Almeida M, Falcão Reis C.
Patrício Rodrigues I, et al. Among authors: falcao reis c.
Cureus. 2024 Jan 28;16(1):e53099. doi: 10.7759/cureus.53099. eCollection 2024 Jan.
Cureus. 2024.
PMID: 38283775
Free PMC article.
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Clinical Role of Codon 87 of the CYFIP2 Gene in Early Infantile Epileptic Encephalopathy: A Clinical Case Description.
Da Silva Cardoso J, Gomes R, Abreu M, Parente Freixo J, Falcão Reis C, Garrido C.
Da Silva Cardoso J, et al. Among authors: falcao reis c.
Cureus. 2023 Feb 22;15(2):e35323. doi: 10.7759/cureus.35323. eCollection 2023 Feb.
Cureus. 2023.
PMID: 36968925
Free PMC article.
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