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International Journal of Molecular Sciences|September 13, 2025
Biallelic BAIAP3 Variants Are Associated with Isolated Retinitis PigmentosaViviana Cordeddu, Elisabetta Flex, Luca Mignini, et al.Cancer Genetics and Cytogenetics|April 25, 2006
Activating PTPN11 mutations play a minor role in pediatric and adult solid tumorsSimone Martinelli, Claudio Carta, Elisabetta Flex, et al.Human Mutation|March 1, 2020
Pathogenic PTPN11 variants involving the poly-glutamine Gln255 -Gln256 -Gln257 stretch highlight the relevance of helix B in SHP2's functional regulationSimone Martinelli, Luca Pannone, Christina Lissewski, et al.Clinical Epigenetics|January 9, 2020
Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signatureAndrea Ciolfi, Erfan Aref-Eshghi, Simone Pizzi, et al.Human Molecular Genetics|September 11, 2021
Hyperactive HRAS dysregulates energetic metabolism in fibroblasts from patients with Costello syndrome via enhanced production of reactive oxidizing speciesGiovanna Carpentieri, Chiara Leoni, Donatella Pietraforte, et al.Orphanet Journal of Rare Diseases|April 23, 2026
Muscle ultrasonography in costello syndrome: unveiling new clinical insights of a complex muscular phenotypeChiara Leoni, Germana Viscogliosi, Deborah Pajalunga, et al.American Journal of Human Genetics|September 27, 2016
TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular AtrophyAntonella Sferra, Gilbert Baillat, Teresa Rizza, et al.Cell Death & Disease|March 1, 2019
Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseasesLudovica Grassi, Romina Alfonsi, Federica Francescangeli, et al.Haematologica|November 20, 2023
Germline bi-allelic SH2B3/LNK alteration predisposes to a neonatal juvenile myelomonocytic leukemia-like disorderChloé Arfeuille, Yoann Vial, Margaux Cadenet, et al.Nature Genetics|April 28, 2015
Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndromeFanny Kortüm, Viviana Caputo, Christiane K Bauer, et al.Pageof 7