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  1. 1
    Things come in threes: A new complex allele and a novel deletion within the CFTR gene complicate an accurate diagnosis of cystic fibrosis

    Things come in threes: A new complex allele and a novel deletion within the CFTR gene complicate an accurate diagnosis of cystic fibrosis by Ilaria Persico, Agnese Feresin, Michela Faleschini, Giorgia Fontana, Fabio Sirchia, Flavio Faletra, Martina La Bianca, Sarah Suergiu, Marcello Morgutti, Massimo Maschio, Adamo Pio D'Adamo, Karen S. Raraigh, Anna Savoia, Roberta Bottega

    Published 2022-06-01
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  2. 2
    Case Report: Two cases of apparent discordance between non-invasive prenatal testing (NIPT) and amniocentesis resulting in feto-placental mosaicism of trisomy 21. Issues in diagnosis, investigation and counselling

    Case Report: Two cases of apparent discordance between non-invasive prenatal testing (NIPT) and amniocentesis resulting in feto-placental mosaicism of trisomy 21. Issues in diagnos... by Agnese Feresin, Tamara Stampalija, Tamara Stampalija, Stefania Cappellani, Rossana Bussani, Rossana Bussani, Flavio Faletra, Flora Murru, Sheila Ulivi, Sarah Suergiu, Pasquale Savarese, Antonio Pedicini, Margherita Policicchio, Raffaella Ruggiero, Barbara Bosio, Giovanni Savarese, Carmela Ardisia

    Published 2022-10-01
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