Edoardo Errichiello - Dissemin

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All papers authored by Edoardo Errichiello

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2024 Edoardo Errichiello

ORCID

, Mauro Lecca, Chiara Vantaggiato

ORCID

, Zoraide Motta, Nicoletta Zanotta

ORCID

, Claudio Zucca, Sara Bertuzzo, Luciano Piubelli, Loredano Pollegioni, Maria Clara Bonaglia

ORCID

Further evidence supporting the role of GTDC1 in glycine metabolism and neurodevelopmental disorders

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2018 Edoardo Errichiello

ORCID

, Cristina Gorgone, Loretta Giuliano

ORCID

, Barbara Iadarola, Emanuela Cosentino, Marzia Rossato, Nehir Edibe Kurtas, Massimo Delledonne, Teresa Mattina

ORCID

, Orsetta Zuffardi

SOX2: Not always eye malformations. Severe genital but no major ocular anomalies in a female patient with the recurrent c.70del20 variant

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2017 Edoardo Errichiello

ORCID

, Noor Mustafa, Annalisa Vetro, Lucia Dora Notarangelo, Hugo de Jonge

ORCID

, Berardo Rinaldi, Debora Vergani, Sabrina Rita Giglio, Patrizia Morbini, Orsetta Zuffardi

SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type

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