IRIS
GIACOMINI, THEA
 Distribuzione geografica
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Continente #
EU - Europa 1.343
Totale 1.343
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Nazione #
IT - Italia 1.343
Totale 1.343
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Città #
Genova 586
Genoa 391
Rapallo 352
Bordighera 14
Totale 1.343
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Nome #
ABCC6 mutations and early onset stroke: Two cases of a typical Pseudoxanthoma Elasticum 99
Migrating focal seizures in Autosomal Dominant Sleep-related Hypermotor Epilepsy with KCNT1 mutation 88
Severe early-onset developmental and epileptic encephalopathy (DEE) associated with novel compound heterozygous pathogenic variants in SLC25A22: Case report and literature review 79
Antiepileptic drugs in Rett Syndrome 76
Clinical spectrum and genotype-phenotype correlations in PRRT2 Italian patients 74
Optic Atrophy and Generalized Chorea in a Patient Harboring an OPA10/RTN4IP1 Pathogenic Variant 70
Pediatric optic neuritis and anti MOG antibodies: a cohort of Italian patients 68
Schimke immuno-osseous dysplasia, two new cases with peculiar EEG pattern 60
Epileptic Encephalopathy, Myoclonus-Dystonia, and Premature Pubarche in Siblings with a Novel C-Terminal Truncating Mutation in ATRX Gene 59
Targeted re-sequencing in malformations of cortical development: genotype-phenotype correlations 55
High density EEG and arterial spin labelling MRI perfusion in the diagnosis and follow-up of patients with Moyamoya vasculopathies 50
3q29 microduplication syndrome: Description of two new cases and delineation of the minimal critical region 47
CASK related disorder: Epilepsy and developmental outcome 43
1p31.1 microdeletion including only NEGR1 gene in two patients. 40
The spectrum of intermediate SCN8A-related epilepsy 39
Targeted re-sequencing for early diagnosis of genetic causes of childhood epilepsy: The Italian experience from the 'beyond epilepsy' project 38
Photoparoxysmal response in ADCK3 autosomal recessive ataxia: a case report and literature review 37
Alternating Hemiplegia of Childhood in a Child Harboring a Novel TBC1D24 Mutation: Case Report and Literature Review 34
Focal status and acute encephalopathy in a 13-year-old boy with de novo DNM1L mutation: Video-polygraphic pattern and clues for differential diagnosis 32
Epilepsy Course and Developmental Trajectories in STXBP1-DEE 31
Clinical and Molecular Characterization of Two Patients with CNTN6 Copy Number Variations 28
On the role of REM sleep microstructure in suppressing interictal spikes in Electrical Status Epilepticus during Sleep 25
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals 24
Hemispheric surgery for severe epilepsy in early childhood: a case series 24
Comparison of Qualitative and Quantitative Analyses of MR-Arterial Spin Labeling Perfusion Data for the Assessment of Pediatric Patients with Focal Epilepsies 23
A Phenotypic-Driven Approach for the Diagnosis of WOREE Syndrome 22
Spatial coefficient of variation applied to arterial spin labeling MRI may contribute to predict surgical revascularization outcomes in pediatric moyamoya vasculopathy 22
Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder 18
De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes 16
Acute Neurological Presentation in Children With SARS-CoV-2 Infection 14
Correction to: Spatial coefficient of variation applied to arterial spin labeling MRI may contribute to predict surgical revascularization outcomes in pediatric moyamoya vasculopathy 10
LONG-TERM OUTCOME IN CEREBRAL ARTERIA ISCHEMIC STROKE (AIS) DUE TO VARICELLA ZOSTER VIRUS (VZV) IN CHILDREN 10
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals 10
De novo POLR2A p.(Ile457Thr) variant associated with early-onset encephalopathy and cerebellar atrophy: expanding the phenotypic spectrum 9
Expanding the phenotype associated with interstitial 6p25.1p24.3 microdeletion: a new case and review of the literature 9
Supratentorial Demyelinating Lesions Following Severe Acute Respiratory Syndrome Coronavirus-2 Infection: A Pediatric Case Report 7
Hyaline Protoplasmic Astrocytopathy in the Setting of Epilepsy 5
Basal ganglia stroke in pediatric population: Single center experience 4
Cask-Related Disorders: Clinical, Electroencephalographic and Neuroradiological Description of Four Genetically Confirmed Cases 4
Electroclinical Features of Epilepsy in Kleefstra Syndrome 3
Intragenic Microdeletion of ULK4 and Partial Microduplication of BRWD3 in Siblings with Neuropsychiatric Features and Obesity 2
Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities 1
Totale 1.409
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Categoria #
all - tutte 6.950
article - articoli 6.757
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 13.707
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/20192 0 0 0 0 0 0 0 0 0 1 1 0
2019/2020138 6 6 2 6 10 12 25 10 14 23 20 4
2020/2021231 5 14 9 94 9 1 6 22 11 43 9 8
2021/2022247 12 10 2 19 21 15 5 49 18 44 3 49
2022/2023423 32 53 12 36 46 56 2 35 63 4 73 11
2023/2024356 40 30 15 44 18 96 35 35 17 26 0 0
Totale 1.409