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Ultrasound assessment of diaphragmatic function in type 1 spinal muscular atrophy.
- Published in:
- Pediatric Pulmonology, 2020, v. 55, n. 7, p. 1781, doi. 10.1002/ppul.24814
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- Publication type:
- 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.
- Published in:
- Acta Radiologica, 2022, v. 63, n. 12, p. 1703, doi. 10.1177/02841851211055821
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- Publication type:
- Article
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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- Publication type:
- Article
Prognostic factors for tube feeding in type I SMA patients treated with disease-modifying therapies: a cohort study.
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- European Journal of Pediatrics, 2024, v. 183, n. 11, p. 4735, doi. 10.1007/s00431-024-05735-9
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- Publication type:
- 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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- Publication type:
- Article
Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotype.
- Published in:
- 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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- Publication type:
- 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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- Publication type:
- Article
Systematic ophthalmologic evaluation in cardio‐facio‐cutaneous syndrome: A genotype–endophenotype correlation.
- Published in:
- 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?
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 11, p. 3287, doi. 10.1002/ajmg.a.62917
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- Publication type:
- Article
Smith Magenis syndrome: First case of congenital heart defect in a patient with Rai1 mutation.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 2184, doi. 10.1002/ajmg.a.62740
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- Publication type:
- Article
Bone tissue homeostasis and risk of fractures in Costello syndrome: A 4‐year follow‐up study.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 422, doi. 10.1002/ajmg.a.62615
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- Publication type:
- Article
Characterization of bone homeostasis in individuals affected by cardio‐facio‐cutaneous syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 414, doi. 10.1002/ajmg.a.62588
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- Publication type:
- Article
Genotype‐cardiac phenotype correlations in a large single‐center cohort of patients affected by RASopathies: Clinical implications and literature review.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 431, doi. 10.1002/ajmg.a.62529
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- Publication type:
- Article
Broadening the phenotypic spectrum of Beta3GalT6‐associated phenotypes.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 3153, doi. 10.1002/ajmg.a.62399
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- Publication type:
- Article
Smith–Magenis syndrome: Report of morphological and new functional cardiac findings with review of the literature.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 2003, doi. 10.1002/ajmg.a.62196
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- Publication type:
- Article
Impact of Costello syndrome on growth patterns.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2797, doi. 10.1002/ajmg.a.61812
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- Publication type:
- Article
The dark side of COVID‐19: The need of integrated medicine for children with special care needs.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 8, p. 1988, doi. 10.1002/ajmg.a.61722
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- Publication type:
- Article
Nissen fundoplication in Cornelia de Lange syndrome spectrum: Who are the potential candidates?
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. 1697, doi. 10.1002/ajmg.a.61625
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- Publication type:
- Article
First evidence of a therapeutic effect of miransertib in a teenager with Proteus syndrome and ovarian carcinoma.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 7, p. 1319, doi. 10.1002/ajmg.a.61160
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- Publication type:
- Article
Pain in individuals with RASopathies: Prevalence and clinical characterization in a sample of 80 affected patients.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 940, doi. 10.1002/ajmg.a.61111
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- Publication type:
- Article
Oligonephronia and Wolf‐Hirschhorn syndrome: A further observation.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 409, doi. 10.1002/ajmg.a.38554
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- Publication type:
- Article
Congenital immunodeficiency in an individual with Wiedemann-Steiner syndrome due to a novel missense mutation in KMT2A.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2389, doi. 10.1002/ajmg.a.37681
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- Publication type:
- Article
Respiratory and gastrointestinal dysfunctions associated with auriculo-condylar syndrome and a homozygous PLCB4 loss-of-function mutation.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1471, doi. 10.1002/ajmg.a.37625
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- Publication type:
- Article
Chromosome 9p deletion syndrome and sex reversal: Novel findings and redefinition of the critically deleted regions.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2266, doi. 10.1002/ajmg.a.35489
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- Publication type:
- Article
Airways and craniofacial assessment in children affected by achondroplasia with and without sleep-disordered breathing: quantitative magnetic resonance study.
- Published in:
- Child's Nervous System, 2022, v. 38, n. 6, p. 1147, doi. 10.1007/s00381-022-05484-w
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- Publication type:
- Article
The influence of quality criteria on parents' evaluation of medical web-pages: An Italian randomised trial.
- Published in:
- Technology & Health Care, 2007, v. 15, n. 6, p. 399, doi. 10.3233/thc-2007-15602
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- Publication type:
- 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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- Publication type:
- Article
One case of anetoderma post‐vitamin K<sub>1</sub> injection in a newborn.
- Published in:
- International Journal of Dermatology, 2020, v. 59, n. 5, p. e168, doi. 10.1111/ijd.14779
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- Publication type:
- Article
A multi-step approach to overcome challenges in the management of head and neck lymphatic malformations, and response to treatment.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03200-2
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- Publication type:
- Article
Status epilepticus in BRAF‐related cardio‐facio‐cutaneous syndrome: Focus on neuroimaging clues to physiopathology.
- Published in:
- Epilepsia Open, 2024, v. 9, n. 1, p. 258, doi. 10.1002/epi4.12864
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- Publication type:
- Article
Short therapy in a septic arthritis of the neonatal hip.
- Published in:
- Pediatric Reports, 2019, v. 11, n. 3, p. 41, doi. 10.4081/pr.2019.8161
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- Publication type:
- Article
The re-emergence of dengue virus in non-endemic countries: a case series.
- Published in:
- BMC Research Notes, 2014, v. 7, p. 1, doi. 10.1186/1756-0500-7-596
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- Publication type:
- Article
Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational study.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02652-2
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- Publication type:
- Article
Metabolic Profile of Patients with Smith-Magenis Syndrome: An Observational Study with Literature Review.
- Published in:
- Children, 2023, v. 10, n. 9, p. 1451, doi. 10.3390/children10091451
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- Publication type:
- Article
Artificial Intelligence Procedure for the Screening of Genetic Syndromes Based on Voice Characteristics.
- Published in:
- Bioengineering (Basel), 2023, v. 10, n. 12, p. 1375, doi. 10.3390/bioengineering10121375
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- Publication type:
- Article
Early Gross Motor Milestones in Duchenne Muscular Dystrophy.
- Published in:
- Journal of Neuromuscular Diseases, 2021, v. 8, n. 4, p. 453, doi. 10.3233/JND-210640
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- Publication type:
- Article
Oral and Swallowing Abilities Tool (OrSAT) for Type 1 SMA Patients: Development of a New Module.
- Published in:
- Journal of Neuromuscular Diseases, 2021, v. 8, n. 4, p. 589, doi. 10.3233/JND-200614
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- Publication type:
- Article
The Impact of Blenderized Tube Feeding on Gastrointestinal Symptoms, a Scoping Review.
- Published in:
- Applied Sciences (2076-3417), 2023, v. 13, n. 4, p. 2173, doi. 10.3390/app13042173
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- Publication type:
- Article
Congenital heart defects in CTNNB1 syndrome: Raising clinical awareness.
- Published in:
- Clinical Genetics, 2023, v. 104, n. 5, p. 528, doi. 10.1111/cge.14404
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- Publication type:
- Article
Further case of enlarged spinal nerve roots in KRAS‐related Noonan syndrome.
- Published in:
- Clinical Genetics, 2023, v. 104, n. 1, p. 136, doi. 10.1111/cge.14308
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- Publication type:
- Article
Prevalence of bladder cancer in Costello syndrome: New insights to drive clinical decision‐making.
- Published in:
- Clinical Genetics, 2022, v. 101, n. 4, p. 454, doi. 10.1111/cge.14111
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- Publication type:
- Article
Old treatments for new genetic conditions: Sirolimus therapy in a child affected by mosaic overgrowth with fibroadipose hyperplasia.
- Published in:
- Clinical Genetics, 2019, v. 96, n. 1, p. 102, doi. 10.1111/cge.13550
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- Publication type:
- Article
Musculo-skeletal phenotype of Costello syndrome and cardio-facio-cutaneous syndrome: insights on the functional assessment status.
- Published in:
- 2021
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- Publication type:
- journal article
Contactless: a new personalised telehealth model in chronic pediatric diseases and disability during the COVID-19 era.
- Published in:
- Italian Journal of Pediatrics, 2021, v. 47, n. 1, p. 1, doi. 10.1186/s13052-021-00975-z
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- Publication type:
- Article
Basedow-Graves' disease in a pediatric patient with Sticlker syndrome, a new endocrine finding to improve personalized treatment.
- Published in:
- Italian Journal of Pediatrics, 2020, v. 46, n. 1, p. N.PAG, doi. 10.1186/s13052-020-00945-x
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- Publication type:
- 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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- Publication type:
- Article
Hyperactive HRAS dysregulates energetic metabolism in fibroblasts from patients with Costello syndrome via enhanced production of reactive oxidizing species.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 4, p. 561, doi. 10.1093/hmg/ddab270
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- Publication type:
- Article
Multimodal ocular imaging in Proteus syndrome.
- Published in:
- European Journal of Ophthalmology, 2023, v. 33, n. 5, p. NP5, doi. 10.1177/11206721221125852
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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.
- Published in:
- Echocardiography, 2022, v. 39, n. 5, p. 741, doi. 10.1111/echo.15349
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- Publication type:
- Article