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European Journal of Human Genetics : EJHG|June 26, 2023
Epidemiology of the disorders of the Pik3ca-related overgrowth spectrum (Pros)Giuseppe Reynolds, Simona Cardaropoli, Diana Carli, et al.European Journal of Medical Genetics|May 17, 2026
VPS35L-Related Ritscher-Schinzel Syndrome: Expanding Genotype-Phenotype CorrelationsIlaria Carelli, Federico Rondot, Maria Luca, et al.Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology|October 2, 2012
Successful medical treatment for ranula in childrenSalvatore Garofalo, Alessandro Mussa, Michael Mostert, et al.The Journal of Pediatrics|January 19, 2021
Evolution over Time of Leg Length Discrepancy in Patients with Syndromic and Isolated Lateralized OvergrowthDiana Carli, Maurizio De Pellegrin, Luisa Franceschi, et al.Genes|June 26, 2026
<i>TRAPPC9</i>-Related Intellectual Developmental Disorder: A Systematic Review and a Novel Case of a Complex Structural VariantMarta Calvo, Giuseppe Reynolds, Maria Luca, et al.Clinical Genetics|August 17, 2021
Kaposiform hemangioendothelioma further broadens the phenotype of PIK3CA-related overgrowth spectrumDiana Carli, Silvia Kalantari, Rosaria Manicone, et al.Archives of Pediatrics & Adolescent Medicine|June 6, 2008
Thyroid nodules and cancer in children and adolescents affected by autoimmune thyroiditisAndrea Corrias, Alessandra Cassio, Giovanna Weber, et al.Genes|December 23, 2023
Work-Up and Treatment Strategies for Individuals with <i>PIK3CA</i>-Related Disorders: A Consensus of Experts from the Scientific Committee of the Italian Macrodactyly and PROS AssociationAndrea Gazzin, Chiara Leoni, Germana Viscogliosi, et al.Clinical Endocrinology|January 15, 2013
Central adrenal insufficiency in young adults with Prader-Willi syndromeGraziano Grugni, Luciano Beccaria, Andrea Corrias, et al.Genes|October 29, 2025
Expanding Clinical and Genetic Landscape of <i>SATB2</i>-Associated SyndromeVerdiana Pullano, Federico Rondot, Ilaria Carelli, et al.Pageof 16