Found: 117
Select item for more details and to access through your institution.
Rhythmic tongue movements during sleep: A peculiar parasomnia in Costello syndrome.
- Published in:
- Movement Disorders, 2006, v. 21, n. 4, p. 473, doi. 10.1002/mds.20741
- By:
- 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
- By:
- Publication type:
- Article
Wolf–Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16.
- Published in:
- 2008
- By:
- Publication type:
- Correction notice
Wolf–Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16.
- Published in:
- Human Genetics, 2007, v. 122, n. 5, p. 423, doi. 10.1007/s00439-007-0412-5
- By:
- Publication type:
- Article
Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome.
- Published in:
- Human Genetics, 2002, v. 111, n. 4/5, p. 421, doi. 10.1007/s00439-002-0803-6
- By:
- 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
- By:
- Publication type:
- Article
The line between COVID-19 pandemic and rare bone diseases.
- Published in:
- 2021
- By:
- Publication type:
- Letter
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
- By:
- Publication type:
- Article
Determinants of antibiotic prescription in children with adenovirus respiratory tract infections.
- Published in:
- European Journal of Pediatrics, 2024, v. 183, n. 8, p. 3489, doi. 10.1007/s00431-024-05615-2
- By:
- Publication type:
- Article
Intestinal Permeability in Children with Functional Gastrointestinal Disorders: The Effects of Diet.
- Published in:
- Nutrients, 2022, v. 14, n. 8, p. N.PAG, doi. 10.3390/nu14081578
- By:
- Publication type:
- Article
How to Perform Pediatric Lung Ultrasound Examinations in the Time of COVID‐19.
- Published in:
- Journal of Ultrasound in Medicine, 2020, v. 39, n. 10, p. 2081, doi. 10.1002/jum.15306
- By:
- Publication type:
- Article
Thoracolumbar stenosis and neurologic symptoms: Quantitative MRI in achondroplasia.
- Published in:
- Journal of Neuroimaging, 2022, v. 32, n. 5, p. 884, doi. 10.1111/jon.13015
- By:
- Publication type:
- Article
Neurofibromatosis Type 1 Associated with Vertebrobasilar Dolichoectasia and Pontine Ischemic Stroke.
- Published in:
- Journal of Neuroimaging, 2015, v. 25, n. 3, p. 505, doi. 10.1111/jon.12160
- By:
- Publication type:
- Article
Multidisciplinary Management of Costello Syndrome: Current Perspectives.
- Published in:
- Journal of Multidisciplinary Healthcare, 2022, v. 15, p. 1277, doi. 10.2147/JMDH.S291757
- By:
- Publication type:
- Article
p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 8, p. 1068, doi. 10.1038/ejhg.2014.243
- By:
- Publication type:
- Article
Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 3, p. 317, doi. 10.1038/ejhg.2014.115
- By:
- Publication type:
- Article
Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A -Related Syndrome.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 3, p. 1815, doi. 10.3390/ijms23031815
- By:
- Publication type:
- Article
Novel Variant in the USP9X Gene Is Associated with Congenital Heart Disease in a Male Patient: A Case Report and Literature Review.
- Published in:
- Molecular Syndromology, 2023, v. 14, n. 2, p. 158, doi. 10.1159/000527424
- By:
- Publication type:
- Article
Trisomy 22 Mosaicism from Prenatal to Postnatal Findings: A Case Series and Systematic Review of the Literature.
- Published in:
- Genes, 2024, v. 15, n. 3, p. 346, doi. 10.3390/genes15030346
- By:
- Publication type:
- Article
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.
- Published in:
- Genes, 2023, v. 14, n. 12, p. 2134, doi. 10.3390/genes14122134
- By:
- Publication type:
- Article
From Feeding Challenges to Oral-Motor Dyspraxia: A Comprehensive Description of 10 New Cases with CTNNB1 Syndrome.
- Published in:
- Genes, 2023, v. 14, n. 10, p. 1843, doi. 10.3390/genes14101843
- By:
- Publication type:
- Article
The "FEEDS (FEeding Eating Deglutition Skills)" over Time Study in Cardiofaciocutaneous Syndrome.
- Published in:
- Genes, 2023, v. 14, n. 7, p. 1338, doi. 10.3390/genes14071338
- By:
- Publication type:
- Article
What to Expect of Feeding Abilities and Nutritional Aspects in Achondroplasia Patients: A Narrative Review.
- Published in:
- Genes, 2023, v. 14, n. 1, p. 199, doi. 10.3390/genes14010199
- By:
- Publication type:
- Article
Insights into the Cardiac Phenotype in 9p Deletion Syndrome: A Multicenter Italian Experience and Literature Review.
- Published in:
- Genes, 2023, v. 14, n. 1, p. 146, doi. 10.3390/genes14010146
- By:
- Publication type:
- Article
Epilepsy and BRAF Mutations: Phenotypes, Natural History and Genotype-Phenotype Correlations.
- Published in:
- Genes, 2021, v. 12, n. 9, p. 1316, doi. 10.3390/genes12091316
- By:
- Publication type:
- Article
Visual Function and Ophthalmological Findings in CHARGE Syndrome: Revision of Literature, Definition of a New Clinical Spectrum and Genotype Phenotype Correlation.
- Published in:
- Genes, 2021, v. 12, n. 7, p. 972, doi. 10.3390/genes12070972
- By:
- Publication type:
- Article
Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 7, p. 734, doi. 10.1038/ejhg.2012.7
- By:
- Publication type:
- Article
Differential secretion of the mutated protein is a major component affecting phenotypic severity in CRLF1-associated disorders.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 5, p. 525, doi. 10.1038/ejhg.2010.253
- By:
- Publication type:
- Article
High-resolution SNP arrays in mental retardation diagnostics: how much do we gain?
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 2, p. 178, doi. 10.1038/ejhg.2009.154
- By:
- Publication type:
- Article
Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype–phenotype correlations.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 6, p. 733, doi. 10.1038/ejhg.2008.256
- By:
- Publication type:
- Article
A double cryptic chromosome imbalance is an important factor to explain phenotypic variability in Wolf-Hirschhorn syndrome.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 10, p. 797, doi. 10.1038/sj.ejhg.5201203
- By:
- Publication type:
- Article
Alagille syndrome and hepatocarcinoma: a case report.
- Published in:
- 1992
- By:
- Publication type:
- journal article
Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair.
- Published in:
- Nature Genetics, 2009, v. 41, n. 9, p. 1022, doi. 10.1038/ng.425
- By:
- Publication type:
- Article
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin.
- Published in:
- Nature Genetics, 2008, v. 40, n. 12, p. 1410, doi. 10.1038/ng.252
- By:
- Publication type:
- Article
Quantitative approach to the posterior cranial fossa and craniocervical junction in asymptomatic children with achondroplasia.
- Published in:
- Neuroradiology, 2017, v. 59, n. 10, p. 1031, doi. 10.1007/s00234-017-1887-y
- By:
- 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
- By:
- Publication type:
- Article
Validation and cross‐cultural adaptation of the Italian version of the paediatric eating assessment tool (I‐PEDI‐EAT‐10) in genetic syndromes.
- Published in:
- International Journal of Language & Communication Disorders, 2024, v. 59, n. 3, p. 1152, doi. 10.1111/1460-6984.12986
- By:
- Publication type:
- Article
Cross‐cultural adaptation and validation of the Italian version of the Montreal Children's Hospital Feeding Scale in a special healthcare needs population.
- Published in:
- International Journal of Language & Communication Disorders, 2023, v. 58, n. 4, p. 1223, doi. 10.1111/1460-6984.12857
- By:
- 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
- By:
- Publication type:
- Article
Management of nutritional and gastrointestinal issues in RASopathies: A narrative review.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 4, p. 478, doi. 10.1002/ajmg.c.32019
- By:
- 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
- By:
- 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
- By:
- Publication type:
- Article
SHP2's gain‐of‐function in Werner syndrome causes childhood disease onset likely resulting from negative genetic interaction.
- Published in:
- Clinical Genetics, 2022, v. 102, n. 1, p. 12, doi. 10.1111/cge.14140
- By:
- 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
- By:
- Publication type:
- Article
Skeletal abnormalities are common features in Aymé‐Gripp syndrome.
- Published in:
- Clinical Genetics, 2020, v. 97, n. 2, p. 362, doi. 10.1111/cge.13651
- By:
- Publication type:
- Article
Crisponi/cold‐induced sweating syndrome: Differential diagnosis, pathogenesis and treatment concepts.
- Published in:
- Clinical Genetics, 2020, v. 97, n. 1, p. 209, doi. 10.1111/cge.13639
- By:
- 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
- By:
- Publication type:
- 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
- By:
- 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
- By:
- Publication type:
- Article
Children with special health care needs attending emergency department in Italy: analysis of 3479 cases.
- Published in:
- Italian Journal of Pediatrics, 2020, v. 46, n. 1, p. N.PAG, doi. 10.1186/s13052-020-00937-x
- By:
- Publication type:
- Article