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American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|April 30, 2022
Biallelic variants in CENPF causing a phenotype distinct from Strømme syndromeGerarda Cappuccio, Simona Brillante, Roberta Tammaro, et al.
European Journal of Cardio-Thoracic Surgery : Official Journal of the European Association for Cardio-Thoracic Surgery|June 3, 2017
Prosthetic valve endocarditis: predictors of early outcome of surgical therapy. A multicentric studyNicola Luciani, Eugenio Mossuto, Davide Ricci, et al.
Blood|February 28, 2020
Association of clinical severity with FANCB variant type in Fanconi anemiaMoonjung Jung, Ramanagouda Ramanagoudr-Bhojappa, Sylvie van Twest, et al.
Scientific Reports|January 11, 2020
SWeeP: representing large biological sequences datasets in compact vectorsCamilla Reginatto De Pierri, Ricardo Voyceik, Letícia Graziela Costa Santos de Mattos, et al.
Journal of Translational Medicine|October 2, 2025
Discovery of therapeutic AGC2 modulators by combining docking, binding, and vesicle-based transport assaysLucas Cafferati Beltrame, Sabino Todisco, Anna Lucia Francavilla, et al.
EMBO Molecular Medicine|December 28, 2020
Beclin-1-mediated activation of autophagy improves proximal and distal urea cycle disordersLeandro R Soria, Sonam Gurung, Giulia De Sabbata, et al.
Developmental Cell|June 10, 2014
Wilson disease protein ATP7B utilizes lysosomal exocytosis to maintain copper homeostasisElena V Polishchuk, Mafalda Concilli, Simona Iacobacci, et al.
Frontiers in Oncology|July 14, 2023
Case report: biallelic DNMT3A mutations in acute myeloid leukemiaCosimo Cumbo, Paola Orsini, Luisa Anelli, et al.
International Journal of Molecular Sciences|June 2, 2021
Regulatory Noncoding and Predicted Pathogenic Coding Variants of CCR5 Predispose to Severe COVID-19Sueva Cantalupo, Vito Alessandro Lasorsa, Roberta Russo, et al.
Journal of Translational Medicine|July 7, 2025
Are we properly evaluating genetic and genomic testing? A systematic review of health technology assessment reportsAntonio Sciurti, Giuseppe Migliara, Valentina Baccolini, et al.
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