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Cells|May 13, 2026
Alpelisib in PIK3CA-Related Overgrowth Spectrum (PROS): A Systematic Review of Real-World Evidence in over 100 PatientsFrancesco Pellegrino, Giuseppe Reynolds, Simona Cardaropoli, et al.Genes|June 26, 2026
PPP1CB-Related Noonan Syndrome with Loose Anagen Hair: A Systematic ReviewGiuseppe Reynolds, Marta Calvo, Maria Luca, et al.Orphanet Journal of Rare Diseases|April 4, 2025
The wide phenotypic spectrum of thiamine metabolism dysfunction syndrome 5 and its treatmentAlice Dallan, Giuseppe Reynolds, Carlotta Canavese, et al.International Journal of Molecular Sciences|May 7, 2025
Update on the Clinical and Molecular Characterization of Noonan Syndrome and Other RASopathies: A Retrospective Study and Systematic ReviewGiuseppe Reynolds, Andrea Gazzin, Diana Carli, et al.American Journal of Medical Genetics. Part A|December 15, 2025
DDOST-Congenital Disorder of Glycosylation: Defining the Clinical Spectrum and First Report of a Structural VariantGiuseppe Reynolds, Ilaria Carelli, Federico Rondot, et al.Clinical Genetics|February 2, 2025
Quantification of Lateralized Overgrowth and Genotype-Driven Tissue CompositionAndrea Gazzin, Giuseppe Reynolds, Damiano Allegro, et al.Journal of Medical Genetics|January 27, 2025
Expanding the phenotypic spectrum of PROS: reclassifying isolated lateralised overgrowthAndrea Gazzin, Giuseppe Reynolds, Stefania Massuras, et al.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.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.Pageof 2