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Hormone Research in Paediatrics|January 18, 2014
NR5A1 gene mutations: clinical, endocrine and genetic features in two girls with 46,XY disorder of sex developmentSilvano Bertelloni, Eleonora Dati, Fulvia Baldinotti, et al.
Cancer Letters|November 5, 2008
Endometrial cancer and somatic G>T KRAS transversion in patients with constitutional MUTYH biallelic mutationsRossella Tricarico, Paola Bet, Benedetta Ciambotti, et al.
Journal of Bone and Mineral Metabolism|August 11, 2020
Pulp chamber features, prevalence of abscesses, disease severity, and PHEX mutation in X-linked hypophosphatemic ricketsGiampiero I Baroncelli, Elisa Zampollo, Mario Manca, et al.
European Journal of Medical Genetics|July 1, 2024
Safety and efficacy of burosumab in improving phosphate metabolism, bone health, and quality of life in adolescents with X-linked hypophosphatemic ricketsGiampiero I Baroncelli, Anna Grandone, Antonio Aversa, et al.
Molecular Syndromology|June 14, 2019
Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome: New Report with a 197-kb Deletion Upstream of <i>FOXL2</i> and Review of the LiteratureVeronica Bertini, Angelo Valetto, Fulvia Baldinotti, et al.
Genes|April 27, 2024
An Ultra-Rare Mixed Phenotype with Combined AP-4 and ERF Mutations: The First Report in a Pediatric Patient and a Literature ReviewAlessandro Orsini, Andrea Santangelo, Alessandra Carmignani, et al.
Calcified Tissue International|July 10, 2026
Insight into Natural History and Phenotype in Untreated Adults with X-Linked HypophosphatemiaGiampiero I Baroncelli, Filomena Cetani, Benedetta Toschi, et al.
BMC Neurology|July 22, 2018
Next generation sequencing technologies for a successful diagnosis in a cold case of Leigh syndromePaolo Aretini, Chiara Maria Mazzanti, Marco La Ferla, et al.
International Journal of Molecular Sciences|December 9, 2023
Towards a Long-Read Sequencing Approach for the Molecular Diagnosis of RPGR<sup>ORF15</sup> Genetic VariantsGabriele Bonetti, William Cozza, Andrea Bernini, et al.
Human Mutation|March 18, 2014
Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patientsLucia Micale, Bartolomeo Augello, Claudia Maffeo, et al.
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