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Understanding Growth Failure in Costello Syndrome: Increased Resting Energy Expenditure

The Journal of pediatrics, 2016-03, Vol.170, p.322-324

2016

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Embryopathy Following Maternal Biliopancreatic Diversion: Is Bariatric Surgery Really Safe?

Obesity surgery, 2021, Vol.31 (1), p.445-450

2021

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Ratio Indexes Based on Spectral Electroencephalographic Brainwaves for Assessment of Mental Involvement: A Systematic Review

Sensors (Basel, Switzerland), 2023-06, Vol.23 (13), p.5968

2023

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Musculo-skeletal phenotype of Costello syndrome and cardio-facio-cutaneous syndrome: insights on the functional assessment status

Orphanet journal of rare diseases, 2021-01, Vol.16 (1), p.43-43, Article 43

2021

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Body mass index in type 2 spinal muscular atrophy: a longitudinal study

European journal of pediatrics, 2022-05, Vol.181 (5), p.1923-1932

2022

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Bladder and bowel dysfunction in Down syndrome with neural tube defect: case report and review of the literature

Italian journal of pediatrics, 2023-07, Vol.49 (1), p.89-89

2023

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Intestinal Permeability in Children with Functional Gastrointestinal Disorders: The Effects of Diet

Nutrients, 2022-04, Vol.14 (8), p.1578

2022

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Nasal polyposis in pediatric patients with Cornelia de Lange syndrome: endoscopic diagnosis, treatment and follow up in two case reports

Italian journal of pediatrics, 2023-07, Vol.49 (1), p.85-85, Article 85

2023

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Epilepsy and BRAF Mutations: Phenotypes, Natural History and Genotype-Phenotype Correlations

Genes, 2021-08, Vol.12 (9), p.1316

2021

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Prevalence and Factors Associated with Iron Deficiency Anaemia among Children Aged 6-23 Months in Southwestern Uganda

International journal of pediatrics, 2024-03, Vol.2024, p.6663774-6663774

2024

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Work-Up and Treatment Strategies for Individuals with PIK3CA -Related Disorders: A Consensus of Experts from the Scientific Committee of the Italian Macrodactyly and PROS Association

Genes, 2023-11, Vol.14 (12), p.2134

2023

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The Cardiofaciocutaneous Syndrome: From Genetics to Prognostic-Therapeutic Implications

Genes, 2023-11, Vol.14 (12), p.2111

2023

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Status epilepticus in BRAF-related cardio-facio-cutaneous syndrome: Focus on neuroimaging clues to physiopathology

Epilepsia open, 2024-02, Vol.9 (1), p.258-267

2024

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The Impact of Blenderized Tube Feeding on Gastrointestinal Symptoms, a Scoping Review

Applied sciences, 2023-02, Vol.13 (4), p.2173

2023

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The "FEEDS (FEeding Eating Deglutition Skills)" over Time Study in Cardiofaciocutaneous Syndrome

Genes, 2023-06, Vol.14 (7), p.1338

2023

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The Effect of Educational Intervention Based on Theory of Planned Behavior Approach on Complementary Feeding: A Randomized Controlled Trial

International journal of pediatrics, 2023-01, Vol.2023, p.1086919-11

2023

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

Children (Basel), 2023-08, Vol.10 (9), p.1451

2023

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Identification of Electrocardiographic Patterns Related to Mortality with COVID-19

Applied sciences, 2024-01, Vol.14 (2), p.817

2024

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Visual Function and Ophthalmological Findings in CHARGE Syndrome: Revision of Literature, Definition of a New Clinical Spectrum and Genotype Phenotype Correlation

Genes, 2021-06, Vol.12 (7), p.972

2021

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Molecular advances, clinical management, and treatment opportunities in RASopathies

American journal of medical genetics. Part C, Seminars in medical genetics, 2022-12, Vol.190 (4), p.411-413

2022

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Techniques of parenchyma-sparing hepatectomy for the treatment of tumors involving the hepatocaval confluence: A reliable way to assure an adequate future liver remnant volume

Surgery, 2017-09, Vol.162 (3), p.483-499

2017

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Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome

Journal of medical genetics, 2013-08, Vol.50 (8), p.493-499

2013

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Understanding Growth Failure in Costello Syndrome: Increased Resting Energy Expenditure

Embryopathy Following Maternal Biliopancreatic Diversion: Is Bariatric Surgery Really Safe?

Ratio Indexes Based on Spectral Electroencephalographic Brainwaves for Assessment of Mental Involvement: A Systematic Review

Musculo-skeletal phenotype of Costello syndrome and cardio-facio-cutaneous syndrome: insights on the functional assessment status

Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies

Body mass index in type 2 spinal muscular atrophy: a longitudinal study

Bladder and bowel dysfunction in Down syndrome with neural tube defect: case report and review of the literature

Intestinal Permeability in Children with Functional Gastrointestinal Disorders: The Effects of Diet

Nasal polyposis in pediatric patients with Cornelia de Lange syndrome: endoscopic diagnosis, treatment and follow up in two case reports

Epilepsy and BRAF Mutations: Phenotypes, Natural History and Genotype-Phenotype Correlations

Prevalence and Factors Associated with Iron Deficiency Anaemia among Children Aged 6-23 Months in Southwestern Uganda

Work-Up and Treatment Strategies for Individuals with PIK3CA -Related Disorders: A Consensus of Experts from the Scientific Committee of the Italian Macrodactyly and PROS Association

The Cardiofaciocutaneous Syndrome: From Genetics to Prognostic-Therapeutic Implications

Status epilepticus in BRAF-related cardio-facio-cutaneous syndrome: Focus on neuroimaging clues to physiopathology

The Impact of Blenderized Tube Feeding on Gastrointestinal Symptoms, a Scoping Review

The "FEEDS (FEeding Eating Deglutition Skills)" over Time Study in Cardiofaciocutaneous Syndrome

The Effect of Educational Intervention Based on Theory of Planned Behavior Approach on Complementary Feeding: A Randomized Controlled Trial

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

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

Identification of Electrocardiographic Patterns Related to Mortality with COVID-19

Visual Function and Ophthalmological Findings in CHARGE Syndrome: Revision of Literature, Definition of a New Clinical Spectrum and Genotype Phenotype Correlation

Molecular advances, clinical management, and treatment opportunities in RASopathies

Techniques of parenchyma-sparing hepatectomy for the treatment of tumors involving the hepatocaval confluence: A reliable way to assure an adequate future liver remnant volume

Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome

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

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