394 results on '"Pantaleoni, Chiara"'
Search Results
2. CGH Findings in Children with Complex and Essential Autistic Spectrum Disorder
3. De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling
4. A unique Smith-Magenis patient with a de novo intragenic deletion on the maternally inherited overexpressed RAI1 allele
5. Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias
6. Further delineation and long-term evolution of electroclinical phenotype in Mowat Wilson Syndrome. A longitudinal study in 40 individuals
7. Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study
8. Milder presentation of TELO2-related syndrome in two sisters homozygous for the p.Arg609His pathogenic variant
9. Clinical spectrum of PTEN mutation in pediatric patients. A bicenter experience
10. Connectivity measures suggest a sub-cortical generator of myoclonus in Angelman syndrome
11. Chromosomal Microarray Analysis Has a Poor Diagnostic Yield in Children with Developmental Delay/Intellectual Disability When Concurrent Cerebellar Anomalies Are Present
12. So far so close: an insight into smart working and telehealth reorganization of a Language and Learning Disorders Service in Milan during COVID-19 pandemic
13. Structural and connectivity parameters reveal compensation patterns in young patients with non-progressive and slow-progressive cerebellar ataxia
14. De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling
15. Comparative risk of major congenital malformations with eight different antiepileptic drugs: a prospective cohort study of the EURAP registry
16. Chiari I malformation in defined genetic syndromes in children: are there common pathways?
17. Case report: A novel pathogenic FRMD7 variant in a Turner syndrome patient with familial idiopathic infantile nystagmus
18. Developmental profiles of young children with autism spectrum disorder and global developmental delay: A study with the Griffiths III scales
19. Mowat-Wilson syndrome: growth charts
20. Structural and connectivity parameters reveal spared connectivity in young patients with non-progressive compared to slow-progressive cerebellar ataxia.
21. Teaching NeuroImages: Symmetrical abnormalities of the globi pallidi in succinic semialdehyde dehydrogenase deficiency
22. Abnormal cerebellar foliation in EBF3 mutation
23. Intellectual Disability
24. Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care
25. Cognitive and Behavioral Outcome of Pediatric Low-Grade Central Nervous System Tumors Treated Only with Surgery: A Single Center Experience
26. Neurologic, Neuropsychologic, and Neuroradiologic Features ofEBF3-Related Syndrome
27. Periventricular heterotopia in a male child with USP9X missense variant
28. TFIIH stabilization recovers the DNA repair and transcription dysfunctions in thermo‐sensitive trichothiodystrophy
29. A PDE10A de novo mutation causes childhood‐onset chorea with diurnal fluctuations
30. Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome
31. Microduplication of 15q13.3 and Microdeletion of 18q21.32 in a Patient with Moyamoya Syndrome
32. Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly
33. Brown–Vialetto–van Laere and Fazio–Londe overlap syndromes: A clinical, biochemical and genetic study
34. Alexander disease evolution over time: data from an Italian cohort of pediatric-onset patients
35. Multiple Genetic Rare Variants in Autism Spectrum Disorders: A Single-Center Targeted NGS Study
36. Seizures and EEG Features in 74 Patients With Genetic-Dysmorphic Syndromes
37. POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations
38. Verbal dichotic listening performance and its relationship with EEG features in benign childhood epilepsy with centrotemporal spikes
39. Identification of previously unreported mutations in CHRNA1, CHRNE and RAPSN genes in three unrelated Italian patients with congenital myasthenic syndromes
40. Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotonia.
41. A Missense De Novo Variant in the CASK-interactor KIRREL3 Gene Leading to Neurodevelopmental Disorder with Mild Cerebellar Hypoplasia
42. A Clinical-Based Diagnostic Approach to Cerebellar Atrophy in Children
43. 3q29 microdeletion syndrome: Cognitive and behavioral phenotype in four patients
44. Postural Control in Children with Cerebellar Ataxia
45. Additional file 1 of Mowat-Wilson syndrome: growth charts
46. Mowat-Wilson syndrome:growth charts
47. Intellectual and language findings and their relationship to EEG characteristics in benign childhood epilepsy with centrotemporal spikes
48. Clinical, Cognitive and Behavioural Assessment in Children with Cerebellar Disorder
49. CGH Findings in Children with Complex and Essential Autistic Spectrum Disorder
50. Milder presentation of TELO2-related syndrome in two sisters homozygous for the p.Arg609His pathogenic variant
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