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Genes
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January 21, 2023
Insights into the Cardiac Phenotype in 9p Deletion Syndrome: A Multicenter Italian Experience and Literature Review
Flaminia Pugnaloni, Roberta Onesimo, Rita Blandino, et al.
Genes
|
August 28, 2025
Do Rare Genetic Conditions Exhibit a Specific Phonotype? A Comprehensive Description of the Vocal Traits Associated with Crisponi/Cold-Induced Sweating Syndrome Type 1
Federico Calà, Elisabetta Sforza, Lucia D'Alatri, et al.
International Journal of Molecular Sciences
|
December 11, 2025
Urinary Multi-Omics Profiling Reveals Systemic Molecular Alterations in Progressive External Ophthalmoplegia
Michela Cicchinelli, Guido Primiano, Francesca Canu, et al.
Genes
|
December 23, 2023
The Cardiofaciocutaneous Syndrome: From Genetics to Prognostic-Therapeutic Implications
Giovanna Scorrano, Emanuele David, Elisa Calì, et al.
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.
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 Association
Andrea Gazzin, Chiara Leoni, Germana Viscogliosi, 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.
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.
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.
Page
of 15
Search research articles
Search
Showing results (81-90 of 146) with videos related to
Sort By:
Page
of 15
Genes
|
January 21, 2023
Insights into the Cardiac Phenotype in 9p Deletion Syndrome: A Multicenter Italian Experience and Literature Review
Flaminia Pugnaloni, Roberta Onesimo, Rita Blandino, et al.
Genes
|
August 28, 2025
Do Rare Genetic Conditions Exhibit a Specific Phonotype? A Comprehensive Description of the Vocal Traits Associated with Crisponi/Cold-Induced Sweating Syndrome Type 1
Federico Calà, Elisabetta Sforza, Lucia D'Alatri, et al.
International Journal of Molecular Sciences
|
December 11, 2025
Urinary Multi-Omics Profiling Reveals Systemic Molecular Alterations in Progressive External Ophthalmoplegia
Michela Cicchinelli, Guido Primiano, Francesca Canu, et al.
Genes
|
December 23, 2023
The Cardiofaciocutaneous Syndrome: From Genetics to Prognostic-Therapeutic Implications
Giovanna Scorrano, Emanuele David, Elisa Calì, et al.
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.
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 Association
Andrea Gazzin, Chiara Leoni, Germana Viscogliosi, 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.
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.
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.
Page
of 15