PISCIOTTA, LIVIA
 Distribuzione geografica
Continente #
EU - Europa 316
Totale 316
Nazione #
IT - Italia 316
Totale 316
Città #
Genova 138
Genoa 112
Rapallo 59
Bordighera 7
Totale 316
Nome #
Alternating Hemiplegia of Childhood: Pharmacological treatment of 30 Italian patients, file e268c4cb-3cba-a6b7-e053-3a05fe0adea1 260
An integrated approach to the evaluation of patients with asymptomatic or minimally symptomatic hyperCKemia, file 4c42b711-cc1e-418c-aaee-53f4dd8886db 29
Case Report: Whole Exome Sequencing Revealed Disease-Causing Variants in Two Genes in a Patient With Autism Spectrum Disorder, Intellectual Disability, Hyperactivity, Sleep and Gastrointestinal Disturbances, file e268c4cd-d63c-a6b7-e053-3a05fe0adea1 13
Autism Spectrum Disorder and other Neurodevelopmental Disorders: cytogenetic and genomic approaches, file e268c4ce-3b8b-a6b7-e053-3a05fe0adea1 4
Cardiac phenotype in ATP1A3-related syndromes: A multicentre cohort study, file e268c4cc-d965-a6b7-e053-3a05fe0adea1 2
ATP1A3 spectrum disorders: A video-documented history of 7 genetically confirmed early onset cases, file e268c4cb-071e-a6b7-e053-3a05fe0adea1 1
Severe early-onset developmental and epileptic encephalopathy (DEE) associated with novel compound heterozygous pathogenic variants in SLC25A22: Case report and literature review, file e268c4cb-12b3-a6b7-e053-3a05fe0adea1 1
Personality profile and health-related quality of life in adults with previous continuous spike-waves during slow sleep syndrome, file e268c4cb-3ae7-a6b7-e053-3a05fe0adea1 1
Intragenic duplication of KCNQ5 gene results in aberrant splicing leading to a premature termination codon in a patient with intellectual disability, file e268c4cb-64e4-a6b7-e053-3a05fe0adea1 1
Epileptic Encephalopathy, Myoclonus-Dystonia, and Premature Pubarche in Siblings with a Novel C-Terminal Truncating Mutation in ATRX Gene, file e268c4cc-ad2d-a6b7-e053-3a05fe0adea1 1
White matter and cerebellar involvement in alternating hemiplegia of childhood, file e268c4cc-db19-a6b7-e053-3a05fe0adea1 1
Targeted re-sequencing in malformations of cortical development: genotype-phenotype correlations, file e268c4cc-e490-a6b7-e053-3a05fe0adea1 1
CNNM2 homozygous mutations cause severe refractory hypomagnesemia, epileptic encephalopathy and brain malformations, file e268c4cd-0121-a6b7-e053-3a05fe0adea1 1
Totale 316
Categoria #
all - tutte 699
article - articoli 671
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 1.370


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20202 0 0 0 0 1 0 0 0 1 0 0 0
2020/202145 0 3 0 1 9 5 4 2 2 7 7 5
2021/202292 13 5 5 20 11 4 2 2 4 7 15 4
2022/202376 8 6 12 5 9 9 11 1 4 2 6 3
2023/2024101 6 12 6 13 10 10 14 13 5 12 0 0
Totale 316