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Genetics in Medicine Open|April 22, 2026
Telethon Undiagnosed Disease Program: Structured approach to solving rare childhood-onset genetic diseasesAnnalaura Torella, Manuela Morleo, Carmine Spampanato, et al.
Elife|May 31, 2015
Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndromeSusanne Roosing, Matan Hofree, Sehyun Kim, et al.
Brain : a Journal of Neurology|October 15, 2024
Monoallelic de novo variants in DDX17 cause a neurodevelopmental disorderEleanor G Seaby, Annie Godwin, Géraldine Meyer-Dilhet, et al.
The Journal of Pathology|October 15, 2013
Towards the introduction of the 'Immunoscore' in the classification of malignant tumoursJérôme Galon, Bernhard Mlecnik, Gabriela Bindea, et al.
European Journal of Haematology|December 30, 2020
Comparison of ibrutinib and idelalisib plus rituximab in real-life relapsed/resistant chronic lymphocytic leukemia casesFortunato Morabito, Giovanni Tripepi, Giovanni Del Poeta, et al.
Physical Review Letters|February 15, 2001
Halo structure of (14)BeM Labiche, N A Orr, F M Marqués, et al.
Italian Journal of Pediatrics|August 30, 2022
Cyclic vomiting syndrome in children: a nationwide survey of current practice on behalf of the Italian Society of Pediatric Gastroenterology, Hepatology and Nutrition (SIGENP) and Italian Society of Pediatric Neurology (SINP)Sara Isoldi, Giovanni Di Nardo, Saverio Mallardo, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|November 13, 2018
Is there long-term value of pathology scoring in immunoglobulin A nephropathy? A validation study of the Oxford Classification for IgA Nephropathy (VALIGA) updateRosanna Coppo, Graziella D'Arrigo, Giovanni Tripepi, et al.
The New Microbiologica|October 20, 2010
Performance of genotypic tropism testing in clinical practice using the enhanced sensitivity version of Trofile as reference assay: results from the OSCAR Study GroupValentina Svicher, Roberta D'Arrigo, Claudia Alteri, et al.
Plos Genetics|July 23, 2011
Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndromeMaria Clara Bonaglia, Roberto Giorda, Silvana Beri, et al.
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