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Clinical and Laboratory Findings on Glycogen Storage Disease Type V: Results from a Retrospective Observational Study in a Tertiary Hospital.
Endocr Metab Immune Disord Drug Targets. 2023 Sep 14. doi: 10.2174/1871530323666230914122936. Online ahead of print.
Endocr Metab Immune Disord Drug Targets. 2023.
PMID: 37711120
Brain MRI findings in mandibulofacial dysostosis caused by EFTUD2 haploinsufficiency: a case report with polymicrogyria and dysmorphic caudate nuclei.
Sá Silva J, Alves JE, Azevedo Soares C, Tkachenko N, Garrido C.
Sá Silva J, et al. Among authors: azevedo soares c.
Clin Dysmorphol. 2022 Jan 1;31(1):50-53. doi: 10.1097/MCD.0000000000000398.
Clin Dysmorphol. 2022.
PMID: 34693919
No abstract available.
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Predicting factors of neurodevelopmental performance in children with phenylketonuria.
Azevedo Soares C, Ferreira Almeida M, Soares G, Tkachenko N, Fortuna AM, Carmona C.
Azevedo Soares C, et al.
Am J Med Genet A. 2023 Jun;191(6):1525-1529. doi: 10.1002/ajmg.a.63174. Epub 2023 Mar 5.
Am J Med Genet A. 2023.
PMID: 36872876
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The Young Geneticists Network and the ESHG-Young committee, a forward-looking international community.
Riccardi F, Marcinkute R, Azevedo Soares C, Calapod PS, Cerqueira JM, Avram E, Ding C; ESHG-Young committee.
Riccardi F, et al. Among authors: azevedo soares c.
Eur J Hum Genet. 2022 Mar;30(3):252-255. doi: 10.1038/s41431-021-01019-0. Epub 2022 Jan 14.
Eur J Hum Genet. 2022.
PMID: 35027647
Free PMC article.
No abstract available.
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The socioeconomic epidemiology of inherited retinal diseases in Portugal.
Marta A, Marques JP, Santos C, Coutinho-Santos L, Vaz-Pereira S, Costa J, Arede P, Félix R, Geada S, Gouveia N, Silva R, Baptista M, Lume M, Parreira R, Azevedo Soares C, Menéres MJ, Lemos C, Melo Beirão J.
Marta A, et al. Among authors: azevedo soares c.
Orphanet J Rare Dis. 2024 Apr 9;19(1):151. doi: 10.1186/s13023-024-03161-6.
Orphanet J Rare Dis. 2024.
PMID: 38594754
Free PMC article.
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The Visual Impairment of Inherited Retinal Diseases in Portugal as per the National Table of Disabilities.
Marta A, Miranda V, Lume M, Parreira R, Azevedo Soares C, Menéres MJ, Lemos C, Melo Beirão J.
Marta A, et al. Among authors: azevedo soares c.
Ophthalmol Sci. 2023 Dec 7;4(3):100443. doi: 10.1016/j.xops.2023.100443. eCollection 2024 May-Jun.
Ophthalmol Sci. 2023.
PMID: 38304608
Free PMC article.
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[On the Future of Portuguese Physician-Scientists].
Azevedo Soares C, Incio J, Reis Ferreira M, Barbosa-Breda J, Páris L, Sandoval JL.
Azevedo Soares C, et al.
Acta Med Port. 2016 Dec 30;29(12):793-795. doi: 10.20344/amp.8388. Epub 2016 Dec 30.
Acta Med Port. 2016.
PMID: 28425881
Free article.
Portuguese.
No abstract available.
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