Showing results (61-70 of 247) with videos related to
Sort By:
Pageof 25
ACS Sensors|October 27, 2023
Fully Integrated Point-of-Care Platform for the Self-Monitoring of Phenylalanine in Finger-Prick BloodMaria Anna Messina, Ludovica Maugeri, Guido Spoto, et al.Journal of Pediatric Genetics|December 2, 2021
A Novel 4q32.3 Deletion in a Child: Additional Signs and the Role of MARCH1Xena Giada Pappalardo, Martino Ruggieri, Raffaele Falsaperla, et al.Italian Journal of Pediatrics|June 6, 2022
Diagnostic controversies in recurrent painful ophthalmoplegic neuropathy: single case report with a systematic reviewRaffaele Falsaperla, Santiago Presti, Manuela Lo Bianco, et al.Frontiers in Pediatrics|April 17, 2023
Case report: A gain-of-function of hamartin may lead to a distinct "inverse TSC1-hamartin" phenotype characterized by reduced cell growthAndrea D Praticò, Raffaele Falsaperla, Mattia Comella, et al.Journal of Child Neurology|November 1, 2012
Autonomic dysfunction manifesting with asymmetric face flushing and paroxysmal nonconvulsive episodesPiero Pavone, Andrea Domenico Praticò, Giuseppe Micali, et al.Journal of Pediatric Genetics|February 15, 2018
A New Patient with Potocki-Lupski Syndrome: A Literature ReviewAndrea Domenico Praticò, Raffaele Falsaperla, Renata Rizzo, et al.Journal of Clinical Pharmacology|October 23, 2023
Treatment Options for Cyclic Vomiting Syndrome: A Real-World, Single-Center Experience with Systematic Literature Review and Meta-AnalysisRaffaele Falsaperla, Bruna Scalia, Ausilia Desiree Collotta, et al.BMC Medical Genetics|June 14, 2020
Genotype-phenotype variable correlation in Wilson disease: clinical history of two sisters with the similar genotypeAnnamaria Sapuppo, Piero Pavone, Andrea Domenico Praticò, et al.Pediatric Reports|October 10, 2019
Giant melanocytic nevi and soft tissue undergrowth in the left leg: Pathogenetic hypothesisPiero Pavone, Raffaele Falsaperla, Silvia Marino, et al.Journal of Pediatric Endocrinology & Metabolism : JPEM|December 17, 2005
Hypertrichosis cubiti (hairy elbow syndrome): a clue to a malformation syndromeAgata Polizzi, Piero Pavone, Elisabetta Ciancio, et al.Pageof 25