IRIS
DE MARCO, PATRIZIA
 Distribuzione geografica
Salva come PNG Salva come JPEG
Continente #
EU - Europa 516
Totale 516
Salva come PNG Salva come JPEG
Nazione #
IT - Italia 516
Totale 516
Salva come PNG Salva come JPEG
Città #
Genova 157
Vado Ligure 134
Genoa 123
Rapallo 99
Bordighera 3
Totale 516
Salva come PNG Salva come JPEG
Nome #
Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration 89
No evidence of a major locus for benign familial infantile convulsions on chromosome 19q12-q13.1 72
Benign familial infantile convulsions: Mapping of a novel locus on chromosome 2q24 and evidence for genetic heterogeneity 64
L1CAM variants cause two distinct imaging phenotypes on fetal MRI 45
Genotype-phenotype correlations in neurofibromatosis type 1: A single-center cohort study 41
Dyslipidemia in Children Treated with a BRAF Inhibitor for Low-Grade Gliomas: A New Side Effect? 40
FZD6 is a novel gene for human neural tube defects 34
Expanding the phenotype associated with biallelic SLC20A2 variants 28
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease 28
Clinical and genetic analysis of patients with segmental overgrowth features and somatic mammalian target of rapamycin (mTOR) pathway disruption: Possible novel clinical issues 22
Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of RNF213 21
Case report: Revascularization failure in NF1-related moyamoya syndrome after selumetinib: A possible pathophysiological correlation? 16
Natural history of familial cerebral cavernous malformation syndrome in children: a multicenter cohort study 13
Spinal involvement in pediatric familial cavernous malformation syndrome 11
Multiple Tumors in a Patient with Interleukin-2-Inducible T-Cell Kinase Deficiency: A Case Report 6
Novel causative variants in Legius syndrome: SPRED1 Genotype spectrum expansion 5
Totale 535
Salva come PNG Salva come JPEG
Categoria #
all - tutte 3.290
article - articoli 3.290
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 6.580
Salva come PNG Salva come JPEG


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/202028 0 0 0 0 0 6 8 3 4 4 2 1
2020/202148 0 1 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
2024/2025146 12 19 5 34 36 40 0 0 0 0 0 0
Totale 535