IRIS
CERMINARA, MARIA
 Distribuzione geografica
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Continente #
EU - Europa 476
Totale 476
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Nazione #
IT - Italia 476
Totale 476
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Città #
Genoa 188
Genova 148
Rapallo 135
Bordighera 5
Totale 476
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Nome #
Genetic inactivation of mGlu5 receptor improves motor coordination in the Grm1crv4 mouse model of SCAR13 ataxia 141
Studio di meccanismi oligogenici alla base di patologie complesse dello sviluppo: disturbi del neurosviluppo e sindrome di Poland. 55
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 42
Neurodevelopmental Disorders in Patients With Complex Phenotypes and Potential Complex Genetic Basis Involving Non-Coding Genes, and Double CNVs 40
In-vitro and in-vivo studies depict metabotropic glutamate receptor 5 as a potential pharmacological target to modulate disease progression in ALS 37
Phenotypic spectrum overview of patients with neurodevelopmental disorders sharing one recurrent copy number variant (CNV) and carrying different additional CNVs 35
Whole exome sequencing (WES) and functional analyses suggest synergistic effects of deleterious variants in two candidate genes for Poland Syndrome 34
An example of parenchymal renal sparing in the context of complex malformations due to a novel mutation in the PBX1 gene 30
Complex cases with Autism Spectrum Disorder (ASD), developmental delay, hyperactivity and sleep disturbance explained by oligogenic mechanisms 23
Relevance of double-hit mechanisms in patients with Neurodevelopmental Disorders (NDDs): a re-evaluation of 526 patients with non-benign copy number variants (CNVs). 23
Phenotypic Spectrum revealed by two hits model mechanism in Neurodevelopmental Disorder patients with Syndromic and Recurrent CNVs. 21
Genetic Downregulation of the Metabotropic Glutamate Receptor Type 5 Dampens the Reactive and Neurotoxic Phenotype of Adult ALS Astrocytes 17
Novel SYNGAP1 Variant in an Adult Individual Affected by Intellectual Disability and Epilepsy: A Cold Case Solved through Whole-Exome Sequencing 7
Partial deletion of mGluR5 affects microglia inflammatory phenotype, bioenergetic characteristics, and red-ox state during ALS progression in SOD1G93A mice 7
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Totale 518
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Categoria #
all - tutte 2.280
article - articoli 1.113
book - libri 0
conference - conferenze 929
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 4.322
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/201910 0 0 0 0 0 0 0 0 0 0 5 5
2019/202048 8 1 2 2 2 4 6 9 5 5 4 0
2020/202119 2 0 3 0 0 2 0 5 5 1 1 0
2021/202283 0 1 1 4 0 2 8 13 1 12 13 28
2022/2023177 17 14 7 11 16 24 6 11 27 3 35 6
2023/2024157 1 19 4 20 12 44 16 16 9 16 0 0
Totale 518