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Airways and craniofacial assessment in children affected by achondroplasia with and without sleep-disordered breathing: quantitative magnetic resonance study.
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- Child's Nervous System, 2022, v. 38, n. 6, p. 1147, doi. 10.1007/s00381-022-05484-w
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- Article
Artificial Intelligence Procedure for the Screening of Genetic Syndromes Based on Voice Characteristics.
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- Bioengineering (Basel), 2023, v. 10, n. 12, p. 1375, doi. 10.3390/bioengineering10121375
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- Article
Early Gross Motor Milestones in Duchenne Muscular Dystrophy.
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- Journal of Neuromuscular Diseases, 2021, v. 8, n. 4, p. 453, doi. 10.3233/JND-210640
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- Article
Oral and Swallowing Abilities Tool (OrSAT) for Type 1 SMA Patients: Development of a New Module.
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- Journal of Neuromuscular Diseases, 2021, v. 8, n. 4, p. 589, doi. 10.3233/JND-200614
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- Article
One case of anetoderma post‐vitamin K<sub>1</sub> injection in a newborn.
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- International Journal of Dermatology, 2020, v. 59, n. 5, p. e168, doi. 10.1111/ijd.14779
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- Article
Body mass index in type 2 spinal muscular atrophy: a longitudinal study.
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- European Journal of Pediatrics, 2022, v. 181, n. 5, p. 1923, doi. 10.1007/s00431-021-04325-3
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- Article
Intestinal Permeability in Children with Functional Gastrointestinal Disorders: The Effects of Diet.
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- Nutrients, 2022, v. 14, n. 8, p. N.PAG, doi. 10.3390/nu14081578
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- Article
The influence of quality criteria on parents' evaluation of medical web-pages: An Italian randomised trial.
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- Technology & Health Care, 2007, v. 15, n. 6, p. 399, doi. 10.3233/thc-2007-15602
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- Article
Responsiveness to intravenous immunoglobulins and occurrence of coronary artery abnormalities in a single-center cohort of Italian patients with Kawasaki syndrome.
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- Rheumatology International, 2010, v. 30, n. 6, p. 841, doi. 10.1007/s00296-009-1337-1
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- Article
Incomplete Kawasaki syndrome followed by systemic onset-juvenile idiopathic arthritis mimicking Kawasaki syndrome.
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- 2010
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- Publication type:
- Report
Thoracolumbar stenosis and neurologic symptoms: Quantitative MRI in achondroplasia.
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- Journal of Neuroimaging, 2022, v. 32, n. 5, p. 884, doi. 10.1111/jon.13015
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- Article
Trisomy 22 Mosaicism from Prenatal to Postnatal Findings: A Case Series and Systematic Review of the Literature.
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- Genes, 2024, v. 15, n. 3, p. 346, doi. 10.3390/genes15030346
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- Article
From Feeding Challenges to Oral-Motor Dyspraxia: A Comprehensive Description of 10 New Cases with CTNNB1 Syndrome.
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- Genes, 2023, v. 14, n. 10, p. 1843, doi. 10.3390/genes14101843
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- Article
The "FEEDS (FEeding Eating Deglutition Skills)" over Time Study in Cardiofaciocutaneous Syndrome.
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- Genes, 2023, v. 14, n. 7, p. 1338, doi. 10.3390/genes14071338
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- Article
What to Expect of Feeding Abilities and Nutritional Aspects in Achondroplasia Patients: A Narrative Review.
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- Genes, 2023, v. 14, n. 1, p. 199, doi. 10.3390/genes14010199
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- Article
Insights into the Cardiac Phenotype in 9p Deletion Syndrome: A Multicenter Italian Experience and Literature Review.
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- Genes, 2023, v. 14, n. 1, p. 146, doi. 10.3390/genes14010146
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- Article
Epilepsy and BRAF Mutations: Phenotypes, Natural History and Genotype-Phenotype Correlations.
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- Genes, 2021, v. 12, n. 9, p. 1316, doi. 10.3390/genes12091316
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- Article
Visual Function and Ophthalmological Findings in CHARGE Syndrome: Revision of Literature, Definition of a New Clinical Spectrum and Genotype Phenotype Correlation.
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- Genes, 2021, v. 12, n. 7, p. 972, doi. 10.3390/genes12070972
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- Article
Isolated Contact Urticaria Caused by Immunoglobulin E-Mediated Fish Allergy.
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- Israel Medical Association Journal, 2012, v. 14, n. 1, p. 11
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- Article
The Impact of Blenderized Tube Feeding on Gastrointestinal Symptoms, a Scoping Review.
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- Applied Sciences (2076-3417), 2023, v. 13, n. 4, p. 2173, doi. 10.3390/app13042173
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- Article
Validation and cross‐cultural adaptation of the Italian version of the paediatric eating assessment tool (I‐PEDI‐EAT‐10) in genetic syndromes.
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- International Journal of Language & Communication Disorders, 2024, v. 59, n. 3, p. 1152, doi. 10.1111/1460-6984.12986
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- Article
Cross‐cultural adaptation and validation of the Italian version of the Montreal Children's Hospital Feeding Scale in a special healthcare needs population.
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- International Journal of Language & Communication Disorders, 2023, v. 58, n. 4, p. 1223, doi. 10.1111/1460-6984.12857
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- Article
Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotype.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 4, p. 501, doi. 10.1002/ajmg.c.32022
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- Article
Management of nutritional and gastrointestinal issues in RASopathies: A narrative review.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 4, p. 478, doi. 10.1002/ajmg.c.32019
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- Article
Congenital heart defects in CTNNB1 syndrome: Raising clinical awareness.
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- Clinical Genetics, 2023, v. 104, n. 5, p. 528, doi. 10.1111/cge.14404
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- Article
Further case of enlarged spinal nerve roots in KRAS‐related Noonan syndrome.
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- Clinical Genetics, 2023, v. 104, n. 1, p. 136, doi. 10.1111/cge.14308
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- Article
Prevalence of bladder cancer in Costello syndrome: New insights to drive clinical decision‐making.
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- Clinical Genetics, 2022, v. 101, n. 4, p. 454, doi. 10.1111/cge.14111
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- Article
Old treatments for new genetic conditions: Sirolimus therapy in a child affected by mosaic overgrowth with fibroadipose hyperplasia.
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- Clinical Genetics, 2019, v. 96, n. 1, p. 102, doi. 10.1111/cge.13550
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- Article
Contactless: a new personalised telehealth model in chronic pediatric diseases and disability during the COVID-19 era.
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- Italian Journal of Pediatrics, 2021, v. 47, n. 1, p. 1, doi. 10.1186/s13052-021-00975-z
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- Article
Basedow-Graves' disease in a pediatric patient with Sticlker syndrome, a new endocrine finding to improve personalized treatment.
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- Italian Journal of Pediatrics, 2020, v. 46, n. 1, p. N.PAG, doi. 10.1186/s13052-020-00945-x
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- Article
Short therapy in a septic arthritis of the neonatal hip.
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- Pediatric Reports, 2019, v. 11, n. 3, p. 41, doi. 10.4081/pr.2019.8161
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- Article
A multi-step approach to overcome challenges in the management of head and neck lymphatic malformations, and response to treatment.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03200-2
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- Article
Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational study.
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- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02652-2
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- Article
Treatment of Dystonia Using Trihexyphenidyl in Costello Syndrome.
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- Brain Sciences (2076-3425), 2020, v. 10, n. 7, p. 450, doi. 10.3390/brainsci10070450
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- Article
Impairment of motor skills in children with achondroplasia—usefulness of brain and cranio-cervical junction evaluation by quantitative magnetic resonance imaging: a case-control study.
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- Acta Radiologica, 2022, v. 63, n. 12, p. 1703, doi. 10.1177/02841851211055821
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- Article
Metabolic Profile of Patients with Smith-Magenis Syndrome: An Observational Study with Literature Review.
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- Children, 2023, v. 10, n. 9, p. 1451, doi. 10.3390/children10091451
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- Article
Multimodal ocular imaging in Proteus syndrome.
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- European Journal of Ophthalmology, 2023, v. 33, n. 5, p. NP5, doi. 10.1177/11206721221125852
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- Publication type:
- Article
The re-emergence of dengue virus in non-endemic countries: a case series.
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- BMC Research Notes, 2014, v. 7, p. 1, doi. 10.1186/1756-0500-7-596
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- Article
Ultrasound assessment of diaphragmatic function in type 1 spinal muscular atrophy.
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- Pediatric Pulmonology, 2020, v. 55, n. 7, p. 1781, doi. 10.1002/ppul.24814
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- Article
Bladder and bowel dysfunction in Down syndrome with neural tube defect: case report and review of the literature.
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- Italian Journal of Pediatrics, 2023, v. 49, n. 1, p. 1, doi. 10.1186/s13052-023-01412-z
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- Publication type:
- Article
Nasal polyposis in pediatric patients with Cornelia de Lange syndrome: endoscopic diagnosis, treatment and follow up in two case reports.
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- Italian Journal of Pediatrics, 2023, v. 49, n. 1, p. 1, doi. 10.1186/s13052-023-01454-3
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- Publication type:
- Article
Status epilepticus in BRAF‐related cardio‐facio‐cutaneous syndrome: Focus on neuroimaging clues to physiopathology.
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- Epilepsia Open, 2024, v. 9, n. 1, p. 258, doi. 10.1002/epi4.12864
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- Publication type:
- Article
Pulmonary artery sling in a 22‐month‐old boy with 18q deletion syndrome: A rare but possible association.
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- Echocardiography, 2022, v. 39, n. 5, p. 741, doi. 10.1111/echo.15349
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- Article
Specific oral tolerance induction (SOTI) in pediatric age: Clinical research or just routine practice?
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- Pediatric Allergy & Immunology, 2010, v. 21, n. 2, p. e446, doi. 10.1111/j.1399-3038.2009.00922.x
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- Article
Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 16, p. 2766, doi. 10.1093/hmg/ddac071
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- Article
Hyperactive HRAS dysregulates energetic metabolism in fibroblasts from patients with Costello syndrome via enhanced production of reactive oxidizing species.
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- Human Molecular Genetics, 2022, v. 31, n. 4, p. 561, doi. 10.1093/hmg/ddab270
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- Publication type:
- Article
Systematic ophthalmologic evaluation in cardio‐facio‐cutaneous syndrome: A genotype–endophenotype correlation.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 11, p. 2783, doi. 10.1002/ajmg.a.63395
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- Publication type:
- Article
Celiac disease prevalence and predisposing‐HLA in a cohort of 93 Williams‐Beuren syndrome patients.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 84, doi. 10.1002/ajmg.a.62990
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- Publication type:
- Article
Prevalence of gastrointestinal disorders in individuals with RASopathies: May RAS/MAP/ERK pathway dysfunctions be a model of neuropathic pain and visceral hypersensitivity?
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 11, p. 3287, doi. 10.1002/ajmg.a.62917
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- Article
Smith Magenis syndrome: First case of congenital heart defect in a patient with Rai1 mutation.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 2184, doi. 10.1002/ajmg.a.62740
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- Article