Elisabetta Sforza

Via Atinense 18, IS
Pozzilli, 86077, Italy

Last Updated: 09/26/2026

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Found 22 publications

Sleep disorders in adults with Cri du Chat syndrome: A questionnaire-based study.

Sleep disorders in adults with Cri du Chat syndrome: A questionnaire-based study.

Journal: Sleep medicine

Published: June 29, 2026

Sleep disorders in children with Cri du Chat syndrome: A questionnaire-based study.

Sleep disorders in children with Cri du Chat syndrome: A questionnaire-based study.

Journal: Sleep medicine

Published: February 23, 2026

Cross-cultural adaptation of the Italian version of the "Child and Youth Mental Health Instrument for Developmental Disabilities" (I-ChYMH-DD).

Cross-cultural adaptation of the Italian version of the "Child and Youth Mental Health Instrument for Developmental Disabilities" (I-ChYMH-DD).

Journal: Italian journal of pediatrics

Published: July 12, 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.

Do Rare Genetic Conditions Exhibit a Specific Phonotype? A Comprehensive Description of the Vocal Traits Associated with Crisponi/Cold-Induced Sweating Syndrome Type 1.

Journal: Genes

Published: June 24, 2025

From phenotype to phonotype: a comprehensive description of voice features of Cri du chat syndrome.

From phenotype to phonotype: a comprehensive description of voice features of Cri du chat syndrome.

Journal: European journal of pediatrics

Published: July 20, 2024

Feeding and Nutritional Key Features of Crisponi/Cold-Induced Sweating Syndrome.

Feeding and Nutritional Key Features of Crisponi/Cold-Induced Sweating Syndrome.

Journal: Genes

Published: July 01, 2024

Clarifying main nutritional aspects and resting energy expenditure in children with Smith-Magenis syndrome.

Clarifying main nutritional aspects and resting energy expenditure in children with Smith-Magenis syndrome.

Journal: European journal of pediatrics

Published: March 04, 2024

Trisomy 22 Mosaicism from Prenatal to Postnatal Findings: A Case Series and Systematic Review of the Literature.

Trisomy 22 Mosaicism from Prenatal to Postnatal Findings: A Case Series and Systematic Review of the Literature.

Journal: Genes

Published: January 31, 2024

Artificial Intelligence Procedure for the Screening of Genetic Syndromes Based on Voice Characteristics.

Artificial Intelligence Procedure for the Screening of Genetic Syndromes Based on Voice Characteristics.

Journal: Bioengineering (Basel, Switzerland)

Published: October 11, 2023

From Feeding Challenges to Oral-Motor Dyspraxia: A Comprehensive Description of 10 New Cases with CTNNB1 Syndrome.

From Feeding Challenges to Oral-Motor Dyspraxia: A Comprehensive Description of 10 New Cases with CTNNB1 Syndrome.

Journal: Genes

Published: August 19, 2023

Ligamentous laxity in children with achondroplasia: Prevalence, joint involvement, and implications for early intervention strategies.

Ligamentous laxity in children with achondroplasia: Prevalence, joint involvement, and implications for early intervention strategies.

Journal: European journal of medical genetics

Published: August 07, 2023

Metabolic Profile of Patients with Smith-Magenis Syndrome: An Observational Study with Literature Review.

Metabolic Profile of Patients with Smith-Magenis Syndrome: An Observational Study with Literature Review.

Journal: Children (Basel, Switzerland)

Published: July 10, 2023

Showing 1-12 of 22

Last Updated: 09/26/2026