IRIS
LERONE, MARGHERITA
 Distribuzione geografica
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Continente #
EU - Europa 580
Totale 580
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Nazione #
IT - Italia 580
Totale 580
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Città #
Genova 347
Genoa 131
Rapallo 97
Bordighera 5
Totale 580
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Nome #
Intragenic duplication of KCNQ5 gene results in aberrant splicing leading to a premature termination codon in a patient with intellectual disability 117
Diagnostic Criteria of Pediatric Intestinal Myopathies 114
A spectrum of LMX1B mutations in Nail-Patella syndrome: New point mutations, deletion, and evidence of mosaicism in unaffected parents 102
Consensus based recommendations for diagnosis and medical management of Poland syndrome (sequence) 86
P63 modulates the expression of the WDFY2 gene which is implicated in cancer regulation and limb development 47
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 44
Neurodevelopmental Disorders in Patients With Complex Phenotypes and Potential Complex Genetic Basis Involving Non-Coding Genes, and Double CNVs 44
Novel ACTG2 variants disclose allelic heterogeneity and bi‐allelic inheritance in pediatric chronic intestinal pseudo‐obstruction 35
Novel SYNGAP1 Variant in an Adult Individual Affected by Intellectual Disability and Epilepsy: A Cold Case Solved through Whole-Exome Sequencing 10
Diagnostic and therapeutic approach to multiple endocrine neoplasia type 2B in pediatric patients 7
Exclusion of the Sonic Hedgehog gene as responsible for Currarino syndrome and anorectal malformations with sacral hypodevelopment 5
Dextrocardia in patients with Poland syndrome: Phenotypic characterization provides insight into the pathogenesis 3
Response to Klinger and Merlob re: Case description with review of the literature. Am J Med Genet Part A 149A:1597-1602, 2009 2
Totale 616
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Categoria #
all - tutte 2.560
article - articoli 2.560
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 5.120
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020116 8 2 5 9 12 14 15 11 15 14 8 3
2020/2021109 2 22 18 7 14 2 4 10 4 11 2 13
2021/202288 4 3 4 9 3 9 5 21 5 12 2 11
2022/2023129 12 12 4 7 17 11 5 9 22 1 24 5
2023/2024113 4 6 1 11 6 14 12 14 7 7 5 26
Totale 616