IRIS
DE MARCO, PATRIZIA
 Distribuzione geografica
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Continente #
EU - Europa 408
Totale 408
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Nazione #
IT - Italia 408
Totale 408
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Città #
Genova 166
Genoa 123
Rapallo 112
Bordighera 7
Totale 408
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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 57
L1CAM variants cause two distinct imaging phenotypes on fetal MRI 37
RNF213 variant in a patient with Legius syndrome associated with moyamoya syndrome 33
Dyslipidemia in Children Treated with a BRAF Inhibitor for Low-Grade Gliomas: A New Side Effect? 28
Genotype-phenotype correlations in neurofibromatosis type 1: A single-center cohort study 26
FZD6 is a novel gene for human neural tube defects 24
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease 20
Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of RNF213 11
Clinical and genetic analysis of patients with segmental overgrowth features and somatic mammalian target of rapamycin (mTOR) pathway disruption: Possible novel clinical issues 11
Somatic Double Inactivation of NF1 Associated with NF1-Related Pectus Excavatum Deformity 9
Case report: Revascularization failure in NF1-related moyamoya syndrome after selumetinib: A possible pathophysiological correlation? 8
Expanding the phenotype associated with biallelic SLC20A2 variants 7
Sinus pericranii, skull defects, and structural brain anomalies in TRAF7-related disorder 6
Natural history of familial cerebral cavernous malformation syndrome in children: a multicenter cohort study 5
Spinal involvement in pediatric familial cavernous malformation syndrome 3
Totale 425
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Categoria #
all - tutte 2.516
article - articoli 2.516
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 5.032
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/20199 0 0 0 0 0 0 0 0 0 0 5 4
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
2023/2024115 9 12 5 26 8 20 4 15 9 7 0 0
Totale 425