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Epilepsia Open
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November 9, 2023
Status epilepticus in BRAF-related cardio-facio-cutaneous syndrome: Focus on neuroimaging clues to physiopathology
Elisa Musto, Maria Luigia Gambardella, Marco Perulli, et al.
Pediatric Pulmonology
|
May 13, 2020
Ultrasound assessment of diaphragmatic function in type 1 spinal muscular atrophy
Danilo Buonsenso, Beatrice Berti, Concetta Palermo, et al.
Children (Basel, Switzerland)
|
September 28, 2023
Metabolic Profile of Patients with Smith-Magenis Syndrome: An Observational Study with Literature Review
Clelia Cipolla, Linda Sessa, Giulia Rotunno, et al.
Genes
|
July 29, 2023
The "FEEDS (FEeding Eating Deglutition Skills)" over Time Study in Cardiofaciocutaneous Syndrome
Roberta Onesimo, Elisabetta Sforza, Valentina Giorgio, et al.
Italian Journal of Pediatrics
|
September 24, 2025
Family phenotypic profile in hereditary hemorrhagic telangiectasia: genotype-phenotype correlation in a pediatric Italian population
Valentina Giorgio, Chiara Di Foggia, Giovanna Quatrale, et al.
Genes
|
February 26, 2025
The Arg99Gln Substitution in HNRNPC Is Associated with a Distinctive Clinical Phenotype Characterized by Facial Dysmorphism and Ocular and Cochlear Anomalies
Luigi Chiriatti, Manuela Priolo, Roberta Onesimo, et al.
Journal of Neuromuscular Diseases
|
May 24, 2021
Oral and Swallowing Abilities Tool (OrSAT) for Type 1 SMA Patients: Development of a New Module
Beatrice Berti, Lavinia Fanelli, Roberto de Sanctis, et al.
European Journal of Medical Genetics
|
March 1, 2024
Ligamentous laxity in children with achondroplasia: Prevalence, joint involvement, and implications for early intervention strategies
Domenico Marco Romeo, Virginia Pironi, Chiara Velli, et al.
American Journal of Medical Genetics. Part A
|
December 2, 2021
Characterization of bone homeostasis in individuals affected by cardio-facio-cutaneous syndrome
Chiara Leoni, Germana Viscogliosi, Roberta Onesimo, et al.
International Journal of Language & Communication Disorders
|
November 20, 2023
Validation and cross-cultural adaptation of the Italian version of the paediatric eating assessment tool (I-PEDI-EAT-10) in genetic syndromes
Roberta Onesimo, Elisabetta Sforza, Elizabeth Katherine Anna Triumbari, et al.
Page
of 12
Search research articles
Search
Showing results (61-70 of 111) with videos related to
Sort By:
Page
of 12
Epilepsia Open
|
November 9, 2023
Status epilepticus in BRAF-related cardio-facio-cutaneous syndrome: Focus on neuroimaging clues to physiopathology
Elisa Musto, Maria Luigia Gambardella, Marco Perulli, et al.
Pediatric Pulmonology
|
May 13, 2020
Ultrasound assessment of diaphragmatic function in type 1 spinal muscular atrophy
Danilo Buonsenso, Beatrice Berti, Concetta Palermo, et al.
Children (Basel, Switzerland)
|
September 28, 2023
Metabolic Profile of Patients with Smith-Magenis Syndrome: An Observational Study with Literature Review
Clelia Cipolla, Linda Sessa, Giulia Rotunno, et al.
Genes
|
July 29, 2023
The "FEEDS (FEeding Eating Deglutition Skills)" over Time Study in Cardiofaciocutaneous Syndrome
Roberta Onesimo, Elisabetta Sforza, Valentina Giorgio, et al.
Italian Journal of Pediatrics
|
September 24, 2025
Family phenotypic profile in hereditary hemorrhagic telangiectasia: genotype-phenotype correlation in a pediatric Italian population
Valentina Giorgio, Chiara Di Foggia, Giovanna Quatrale, et al.
Genes
|
February 26, 2025
The Arg99Gln Substitution in HNRNPC Is Associated with a Distinctive Clinical Phenotype Characterized by Facial Dysmorphism and Ocular and Cochlear Anomalies
Luigi Chiriatti, Manuela Priolo, Roberta Onesimo, et al.
Journal of Neuromuscular Diseases
|
May 24, 2021
Oral and Swallowing Abilities Tool (OrSAT) for Type 1 SMA Patients: Development of a New Module
Beatrice Berti, Lavinia Fanelli, Roberto de Sanctis, et al.
European Journal of Medical Genetics
|
March 1, 2024
Ligamentous laxity in children with achondroplasia: Prevalence, joint involvement, and implications for early intervention strategies
Domenico Marco Romeo, Virginia Pironi, Chiara Velli, et al.
American Journal of Medical Genetics. Part A
|
December 2, 2021
Characterization of bone homeostasis in individuals affected by cardio-facio-cutaneous syndrome
Chiara Leoni, Germana Viscogliosi, Roberta Onesimo, et al.
International Journal of Language & Communication Disorders
|
November 20, 2023
Validation and cross-cultural adaptation of the Italian version of the paediatric eating assessment tool (I-PEDI-EAT-10) in genetic syndromes
Roberta Onesimo, Elisabetta Sforza, Elizabeth Katherine Anna Triumbari, et al.
Page
of 12