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Expanding the Spectrum of Autosomal Dominant ATP6V1A -Related Disease: Case Report and Literature Review.
- Published in:
- Genes, 2024, v. 15, n. 9, p. 1219, doi. 10.3390/genes15091219
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- Publication type:
- Article
Transient symptomatic zinc deficiency in a breast‐fed African infant: case report and literature review.
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- International Journal of Dermatology, 2019, v. 58, n. 8, p. 963, doi. 10.1111/ijd.14206
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- Publication type:
- Article
Subtraction Ictal SPECT coregistered to MRI (SISCOM) as a guide in localizing childhood epilepsy.
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- Epilepsia Open, 2020, v. 5, n. 1, p. 61, doi. 10.1002/epi4.12373
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- Publication type:
- Article
Acneiform rash as a side effect of selumetinib in a child with neurofibromatosis type 1 treated for inoperable plexiform neurofibromas: Good results with doxycycline.
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- Dermatologic Therapy, 2022, v. 35, n. 8, p. 1, doi. 10.1111/dth.15607
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- Publication type:
- Article
Stickler syndrome associated with epilepsy: report of three cases.
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- European Journal of Pediatrics, 2015, v. 174, n. 5, p. 697, doi. 10.1007/s00431-015-2514-8
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- Publication type:
- Article
A Rare Cause of Recurrent Spontaneous Pneumothorax.
- Published in:
- 2011
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- Publication type:
- Case Study
Cyclic Vomiting Syndrome in Children.
- Published in:
- Frontiers in Neurology, 2020, v. 11, p. N.PAG, doi. 10.3389/fneur.2020.583425
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- Publication type:
- Article
Pediatric idiopathic intracranial hypertension and the underlying endocrine-metabolic dysfunction: a pilot study.
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- Journal of Pediatric Endocrinology & Metabolism, 2014, v. 27, n. 1/2, p. 107, doi. 10.1515/jpem-2013-0156
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- Publication type:
- Article
Craniofacial Surgery in Fibrous Dysplasia.
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- Journal of Pediatric Endocrinology & Metabolism, 2006, v. 19, p. 595, doi. 10.1515/jpem.2006.19.s2.595
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- Publication type:
- Article
KIRREL3-related disorders: a case report confirming the radiological features and expanding the clinical spectrum to a less severe phenotype.
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- Italian Journal of Pediatrics, 2023, v. 49, n. 1, p. 1, doi. 10.1186/s13052-023-01488-7
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- Publication type:
- Article
Symptomatic Unilateral Renal Angiomyolipoma in a Child with Tuberous Sclerosis.
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- Urologia Internationalis, 2001, v. 67, n. 3, p. 249, doi. 10.1159/000050998
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- Publication type:
- Article
Pulmonary Tuberculosis in Children: A Forgotten Disease?
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- Microorganisms, 2023, v. 11, n. 7, p. 1722, doi. 10.3390/microorganisms11071722
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- Publication type:
- Article
Photodetection probability in quantum systems with arbitrarily strong light-matter interaction.
- Published in:
- Scientific Reports, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41598-018-36056-1
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- Publication type:
- Article
Targeting Inflammatory Mediators in Epilepsy: A Systematic Review of Its Molecular Basis and Clinical Applications.
- Published in:
- Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.741244
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- Publication type:
- Article
The Role of Muscle Biopsy in Diagnostic Process of Infant Hypotonia: From Clinical Classification to the Genetic Outcome.
- Published in:
- Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.735488
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- Publication type:
- Article
The Impact of the COVID-19 Epidemic During the Lockdown on Children With the Pediatric Acute-Onset Neuropsychiatric Syndrome (PANDAS/PANS): The Importance of Environmental Factors on Clinical Conditions.
- Published in:
- Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.702356
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- Publication type:
- Article
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 3, p. 354, doi. 10.1038/ejhg.2014.92
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- Publication type:
- Article
Cyclic vomiting syndrome in children: a nationwide survey of current practice on behalf of the Italian Society of Pediatric Gastroenterology, Hepatology and Nutrition (SIGENP) and Italian Society of Pediatric Neurology (SINP).
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- Italian Journal of Pediatrics, 2022, v. 48, n. 1, p. 1, doi. 10.1186/s13052-022-01346-y
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- Publication type:
- Article
Novel "T-Dimension" Therapies for Pediatric Optic Pathway Glioma: A Timely, Targeted, and Tailored Treatment Trend.
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- Pediatric Neurosurgery, 2022, v. 57, n. 3, p. 161, doi. 10.1159/000524873
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- Publication type:
- Article
Near-field imaging of surface-plasmon vortex-modes around a single elliptical nanohole in a gold film.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-41781-2
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- Publication type:
- Article
Gauge-independent emission spectra and quantum correlations in the ultrastrong coupling regime of open system cavity-QED.
- Published in:
- Nanophotonics (21928606), 2022, v. 11, n. 8, p. 1573, doi. 10.1515/nanoph-2021-0718
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- Publication type:
- Article
Thomas–Reiche–Kuhn (TRK) sum rule for interacting photons.
- Published in:
- Nanophotonics (21928606), 2021, v. 10, n. 1, p. 465, doi. 10.1515/nanoph-2020-0433
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- Publication type:
- Article
Treatment Dilemma in Children with Late-Onset Pompe Disease.
- Published in:
- Genes, 2023, v. 14, n. 2, p. 362, doi. 10.3390/genes14020362
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- Publication type:
- Article
Gonosomal Mosaicism for a Novel COL5A1 Pathogenic Variant in Classic Ehlers-Danlos Syndrome.
- Published in:
- 2021
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- Publication type:
- Case Study
Epilepsy, electroclinical features, and long‐term outcomes in Pitt–Hopkins syndrome due to pathogenic variants in the TCF4 gene.
- Published in:
- European Journal of Neurology, 2022, v. 29, n. 1, p. 19, doi. 10.1111/ene.15104
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- Publication type:
- Article
CDKL5 gene-related epileptic encephalopathy: electroclinical findings in the first year of life.
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- Developmental Medicine & Child Neurology, 2011, v. 53, n. 4, p. 354, doi. 10.1111/j.1469-8749.2010.03889.x
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- Publication type:
- Article
Challenges and management of neurological and psychiatric manifestations in SARS-CoV-2 (COVID-19) patients.
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- Neurological Sciences, 2020, v. 41, n. 9, p. 2353, doi. 10.1007/s10072-020-04544-w
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- Publication type:
- Article
Microcephaly associated with Legg-Calvè-Perthes disease in two siblings.
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- 2012
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- Publication type:
- journal article
Microcephaly associated with Legg-Calvè-Perthes disease in two siblings.
- Published in:
- Neurological Sciences, 2012, v. 33, n. 6, p. 1401, doi. 10.1007/s10072-011-0891-y
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- Publication type:
- Article
Erratum to: Gauge-independent emission spectra and quantum correlations in the ultrastrong coupling regime of open system cavity-QED.
- Published in:
- 2023
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- Publication type:
- Correction Notice
Melkersson–Rosenthal Syndrome in Childhood: Report of Three Paediatric Cases and a Review of the Literature.
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- International Journal of Environmental Research & Public Health, 2019, v. 16, n. 7, p. 1289, doi. 10.3390/ijerph16071289
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- Publication type:
- Article
Clinical guidelines in pediatric headache: evaluation of quality using the AGREE II instrument.
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- Journal of Headache & Pain, 2014, v. 15, n. 1, p. 1, doi. 10.1186/1129-2377-15-57
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- Publication type:
- Article
Wolf-Hirschhorn syndrome: diagnosis using hand radiograph performed for bone age.
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- Pediatric Radiology, 2010, v. 40, n. 9, p. 1580, doi. 10.1007/s00247-009-1490-4
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- Publication type:
- Article
Poly-epiphyseal overgrowth: description of a previously unreported skeletal dysplasia.
- Published in:
- 2007
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- Publication type:
- journal article
Pai syndrome: a review.
- Published in:
- Child's Nervous System, 2020, v. 36, n. 11, p. 2635, doi. 10.1007/s00381-020-04788-z
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- Publication type:
- Article
Clinical variability in children with dolichoarteriopathies of the internal carotid artery.
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- Child's Nervous System, 2020, v. 36, n. 3, p. 621, doi. 10.1007/s00381-019-04395-7
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- Publication type:
- Article
Gradenigo's syndrome with abscess of the petrous apex in pediatric patients: what is the best treatment?
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- Child's Nervous System, 2019, v. 35, n. 12, p. 2265, doi. 10.1007/s00381-019-04352-4
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- Publication type:
- Article
Paediatric clinically isolated syndromes: report of seven cases, differential diagnosis and literature review.
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- Child's Nervous System, 2016, v. 32, n. 1, p. 69, doi. 10.1007/s00381-015-2959-0
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- Publication type:
- Article
Intramedullary spinal cord cavernous malformations presenting with unexplained chest pain: case report and review of the literature.
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- Child's Nervous System, 2013, v. 29, n. 2, p. 323, doi. 10.1007/s00381-012-1941-3
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- Publication type:
- Article
Ehlers-Danlos syndrome and neurological features: a review.
- Published in:
- Child's Nervous System, 2011, v. 27, n. 3, p. 365, doi. 10.1007/s00381-010-1256-1
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- Publication type:
- Article
Bright Polariton Coumarin‐Based OLEDs Operating in the Ultrastrong Coupling Regime.
- Published in:
- Advanced Optical Materials, 2018, v. 6, n. 17, p. 1, doi. 10.1002/adom.201800364
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- Publication type:
- Article
Probing the symmetry breaking of a light–matter system by an ancillary qubit.
- Published in:
- Nature Communications, 2023, n. 1, p. 1, doi. 10.1038/s41467-023-40097-0
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- Publication type:
- Article
Epilepsy in the setting of full trisomy 18: A multicenter study on 18 affected children with and without structural brain abnormalities.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2016, v. 172C, n. 3, p. 288, doi. 10.1002/ajmg.c.31513
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- Publication type:
- Article
Long-term prognosis of patients with Ehlers- Danlos syndrome and epilepsy.
- Published in:
- Epilepsia (Series 4), 2014, v. 55, n. 8, p. 1213, doi. 10.1111/epi.12699
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- Publication type:
- Article
Seizures in fetal alcohol spectrum disorders: Evaluation of clinical, electroencephalographic, and neuroradiologic features in a pediatric case series.
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- Epilepsia (Series 4), 2014, v. 55, n. 6, p. e60, doi. 10.1111/epi.12638
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- Publication type:
- Article
Seizures and epilepsy in Sotos syndrome: Analysis of 19 Caucasian patients with long-term follow-up.
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- Epilepsia (Series 4), 2012, v. 53, n. 6, p. e102, doi. 10.1111/j.1528-1167.2012.03418.x
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- Publication type:
- Article
Italian Consensus Conference on Epilepsy and Pregnancy, Labor and Puerperium.
- Published in:
- Epilepsia (Series 4), 2009, v. 50, p. 7, doi. 10.1111/j.1528-1167.2008.01964.x
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- Publication type:
- Article
CDKL5 deficiency-related neurodevelopmental disorders: a multi-center cohort study in Italy.
- Published in:
- Journal of Neurology, 2024, v. 271, n. 8, p. 5368, doi. 10.1007/s00415-024-12421-1
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- Publication type:
- Article
Cell-based assays for the detection of MOG antibodies: a comparative study.
- Published in:
- Journal of Neurology, 2020, v. 267, n. 12, p. 3555, doi. 10.1007/s00415-020-10024-0
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- Publication type:
- Article
Long-term outcome of epilepsy in patients with Prader-Willi syndrome.
- Published in:
- Journal of Neurology, 2015, v. 262, n. 1, p. 116, doi. 10.1007/s00415-014-7542-1
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- Publication type:
- Article