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The Journal of Clinical Endocrinology and Metabolism|November 3, 2020
Clinical and Functional Consequences of C-Terminal Variants in MCT8: A Case SeriesFerdy S van Geest, Marcel E Meima, Kyra E Stuurman, et al.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.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.British Journal of Haematology|July 22, 2025
Outcomes of children with haematological malignancies given second haploidentical haematopoietic stem cell transplantation with either TCRαβ/CD19 depletion or post-transplant cyclophosphamideRiccardo Masetti, Davide Leardini, Francesca Gottardi, 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.Pageof 93