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Relevance of next generation sequencing (NGS) data re-analysis in the diagnosis of monogenic diseases leading to organ failure.
BMC Med Genomics. 2023 Nov 27;16(1):303. doi: 10.1186/s12920-023-01747-w.
BMC Med Genomics. 2023.
PMID: 38012624
Free PMC article.
Functional evaluation of a novel nonsense variant of the calcium-sensing receptor gene leading to hypocalcemia.
Saglia C, Arruga F, Scolari C, Kalantari S, Albanese S, Bracciamà V, Corso Faini A, Brach Del Prever G, Luca M, Romeo C, Mioli F, Migliorero M, Tessaris D, Carli D, Amoroso A, Vaisitti T, De Sanctis L, Deaglio S.
Saglia C, et al.
Eur J Endocrinol. 2024 Mar 30;190(4):296-306. doi: 10.1093/ejendo/lvae035.
Eur J Endocrinol. 2024.
PMID: 38561929
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Matching clinical and genetic data in pediatric patients at risk of developing cystic kidney disease.
Bracciamà V, Vaisitti T, Mioli F, Faini AC, Del Prever GMB, Martins VH, Camilla R, Mattozzi F, Pieretti S, Luca M, Romeo CM, Saglia C, Migliorero M, Arruga F, Carli D, Amoroso A, Lonardi P, Deaglio S, Peruzzi L.
Bracciamà V, et al. Among authors: saglia c.
Pediatr Nephrol. 2024 Oct 10. doi: 10.1007/s00467-024-06548-6. Online ahead of print.
Pediatr Nephrol. 2024.
PMID: 39384646
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