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Novel Insights from Clinical Practice: Xia-Gibbs Syndrome with Pes Cavus, Conjunctival Melanosis, and Eye Asymmetry due to a de novo AHDC1 Gene Variant – A Case Report and a Brief Review of the Literature.
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- Molecular Syndromology, 2024, v. 15, n. 1, p. 63, doi. 10.1159/000530410
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- Article
Expanding Phenotype of SYT1-Related Neurodevelopmental Disorder: Case Report and Literature Review.
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- Molecular Syndromology, 2023, v. 14, n. 6, p. 493, doi. 10.1159/000530586
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- Publication type:
- Article
Severe Neurodevelopmental Disorder in Autosomal Recessive Spinocerebellar Ataxia 13 (SCAR13) Caused by Two Novel Frameshift Variants in GRM1.
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- 2024
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- Publication type:
- Case Study
Association among Autistic Traits, Treatment Intensity and Outcomes in Adolescents with Anorexia Nervosa: Preliminary Results.
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- Journal of Clinical Medicine, 2021, v. 10, n. 16, p. 3605, doi. 10.3390/jcm10163605
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- Article
SUNCT/SUNA in Pediatric Age: A Review of Pathophysiology and Therapeutic Options.
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- Brain Sciences (2076-3425), 2021, v. 11, n. 9, p. 1252, doi. 10.3390/brainsci11091252
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- Publication type:
- Article
Tolosa-Hunt syndrome and recurrent painful ophthalmoplegic neuropathy, case reports: what to do and when?
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- Italian Journal of Pediatrics, 2023, v. 49, n. 1, p. 1, doi. 10.1186/s13052-023-01541-5
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- Publication type:
- Article
Cannabidiol in the acute phase of febrile infection‐related epilepsy syndrome (FIRES).
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- Epilepsia Open, 2023, v. 8, n. 2, p. 685, doi. 10.1002/epi4.12740
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- Publication type:
- Article
Case report: Expanding the phenotype of FOXP1-related intellectual disability syndrome and hyperkinetic movement disorder in differential diagnosis with epileptic seizures.
- Published in:
- Frontiers in Neurology, 2023, p. 1, doi. 10.3389/fneur.2023.1207176
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- Publication type:
- Article
Aromatic L-Amino-Acid Decarboxylase Deficiency Screening by Analysis of 3-O-Methyldopa in Dried Blood Spots: Results of a Multicentric Study in Neurodevelopmental Disorders.
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- Genes, 2023, v. 14, n. 9, p. 1828, doi. 10.3390/genes14091828
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- Article
Guillain-Barrè Syndrome—Retrospective Analysis of Data from a Cohort of Patients Referred to a Tertiary Care Pediatric Neuromuscular Center from 2000 to 2017: Electrophysiological Findings, Outcomes, and a Brief Literature Review.
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- Medicina (1010660X), 2024, v. 60, n. 9, p. 1490, doi. 10.3390/medicina60091490
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- Article
Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 2, p. 1248, doi. 10.3390/ijms25021248
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- Publication type:
- Article
Early-onset dysphagia and severe neurodevelopmental disorder as early signs in a patient with two novel variants in NARS1: a case report and brief review of the literature.
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- Neurogenetics, 2024, v. 25, n. 3, p. 287, doi. 10.1007/s10048-024-00760-0
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- Publication type:
- Article