IRIS
DE MARCO, PATRIZIA
 Distribuzione geografica
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Continente #
EU - Europa 424
Totale 424
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Nazione #
IT - Italia 424
Totale 424
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Città #
Genova 166
Genoa 137
Rapallo 112
Vado Ligure 6
Bordighera 3
Totale 424
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Nome #
Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration 79
No evidence of a major locus for benign familial infantile convulsions on chromosome 19q12-q13.1 61
Benign familial infantile convulsions: Mapping of a novel locus on chromosome 2q24 and evidence for genetic heterogeneity 59
L1CAM variants cause two distinct imaging phenotypes on fetal MRI 38
RNF213 variant in a patient with Legius syndrome associated with moyamoya syndrome 34
Dyslipidemia in Children Treated with a BRAF Inhibitor for Low-Grade Gliomas: A New Side Effect? 31
Genotype-phenotype correlations in neurofibromatosis type 1: A single-center cohort study 30
FZD6 is a novel gene for human neural tube defects 24
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease 22
Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of RNF213 13
Clinical and genetic analysis of patients with segmental overgrowth features and somatic mammalian target of rapamycin (mTOR) pathway disruption: Possible novel clinical issues 12
Case report: Revascularization failure in NF1-related moyamoya syndrome after selumetinib: A possible pathophysiological correlation? 10
Expanding the phenotype associated with biallelic SLC20A2 variants 10
Sinus pericranii, skull defects, and structural brain anomalies in TRAF7-related disorder 7
Natural history of familial cerebral cavernous malformation syndrome in children: a multicenter cohort study 6
Spinal involvement in pediatric familial cavernous malformation syndrome 4
Totale 440
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Categoria #
all - tutte 2.744
article - articoli 2.744
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 5.488
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/202040 2 1 1 1 7 6 8 3 4 4 2 1
2020/202148 0 1 0 30 6 0 0 5 0 5 1 0
2021/202275 4 2 7 1 5 3 2 11 7 16 4 13
2022/2023135 7 10 3 9 29 14 0 19 12 1 25 6
2023/2024119 9 12 5 26 8 20 3 7 9 7 2 11
2024/202511 11 0 0 0 0 0 0 0 0 0 0 0
Totale 440