IRIS
DE MARCO, PATRIZIA
 Distribuzione geografica
Salva come PNG Salva come JPEG
Continente #
EU - Europa 949
AS - Asia 16
SA - Sud America 4
Totale 969
Salva come PNG Salva come JPEG
Nazione #
IT - Italia 949
CN - Cina 13
BR - Brasile 4
SG - Singapore 2
VN - Vietnam 1
Totale 969
Salva come PNG Salva come JPEG
Città #
Genoa 556
Genova 157
Vado Ligure 134
Rapallo 99
Beijing 6
Bordighera 3
Curitiba 1
Cícero Dantas 1
Hải Dương 1
Piancó 1
São João da Boa Vista 1
Totale 960
Salva come PNG Salva come JPEG
Nome #
Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration 110
No evidence of a major locus for benign familial infantile convulsions on chromosome 19q12-q13.1 106
Benign familial infantile convulsions: Mapping of a novel locus on chromosome 2q24 and evidence for genetic heterogeneity 101
Genotype-phenotype correlations in neurofibromatosis type 1: A single-center cohort study 78
Dyslipidemia in Children Treated with a BRAF Inhibitor for Low-Grade Gliomas: A New Side Effect? 78
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease 66
L1CAM variants cause two distinct imaging phenotypes on fetal MRI 62
Clinical and genetic analysis of patients with segmental overgrowth features and somatic mammalian target of rapamycin (mTOR) pathway disruption: Possible novel clinical issues 58
FZD6 is a novel gene for human neural tube defects 55
Expanding the phenotype associated with biallelic SLC20A2 variants 50
Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of RNF213 46
Novel causative variants in Legius syndrome: SPRED1 Genotype spectrum expansion 37
Natural history of familial cerebral cavernous malformation syndrome in children: a multicenter cohort study 37
Case report: Revascularization failure in NF1-related moyamoya syndrome after selumetinib: A possible pathophysiological correlation? 36
Multiple Tumors in a Patient with Interleukin-2-Inducible T-Cell Kinase Deficiency: A Case Report 34
Spinal involvement in pediatric familial cavernous malformation syndrome 24
Arteriovenous cerebral high-flow shunts: genetic analysis of patients from a pediatric tertiary care center 11
Targeted Re-Sequencing of Neural Tube Defects Patients and Families Identifies Rare Variants in Genes Candidate From Animal Models 1
Biallelic loss-of-function variants of SLC12A9 cause lysosome dysfunction and a syndromic neurodevelopmental disorder 1
Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals 1
Totale 992
Salva come PNG Salva come JPEG
Categoria #
all - tutte 4.913
article - articoli 4.913
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 9.826
Salva come PNG Salva come JPEG


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202147 0 0 0 30 6 0 0 5 0 5 1 0
2021/202265 4 0 5 1 5 3 1 9 7 15 3 12
2022/2023119 6 8 3 8 27 12 0 15 12 1 21 6
2023/2024105 8 9 4 23 8 17 3 7 8 6 2 10
2024/2025392 12 19 5 34 36 44 21 70 35 19 54 43
2025/2026211 83 7 63 58 0 0 0 0 0 0 0 0
Totale 992