IRIS
GANA, SIMONE
 Distribuzione geografica
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Continente #
NA - Nord America 248
EU - Europa 194
AS - Asia 74
Totale 516
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Nazione #
US - Stati Uniti d'America 246
IE - Irlanda 106
CN - Cina 48
IT - Italia 36
FI - Finlandia 25
SG - Singapore 18
DE - Germania 15
JP - Giappone 6
GB - Regno Unito 4
CA - Canada 2
IN - India 2
SE - Svezia 2
AT - Austria 1
CZ - Repubblica Ceca 1
ES - Italia 1
FR - Francia 1
RU - Federazione Russa 1
UA - Ucraina 1
Totale 516
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Città #
Dublin 103
Chandler 70
Ashburn 27
Helsinki 22
Boardman 19
Shanghai 14
Singapore 14
Princeton 11
Lawrence 10
Medford 9
Wilmington 9
Beijing 7
Nanjing 6
New York 6
Pavia 6
Jacksonville 5
Tokyo 5
Los Angeles 4
Milan 4
Chicago 3
Fairfield 3
Falkenstein 3
Hebei 3
Washington 3
Ann Arbor 2
Berlin 2
Brescia 2
Houston 2
Jiaxing 2
Pune 2
Rome 2
Changsha 1
Chieti 1
Des Moines 1
Desio 1
Florence 1
Frankfurt am Main 1
Guangzhou 1
Hangzhou 1
Hefei 1
Ibi 1
Innsbruck 1
Jinan 1
Lanzhou 1
Legnano 1
Livorno 1
London 1
Mainz 1
Meina 1
Meizhou 1
Munich 1
Nanchang 1
Newark 1
Olomouc 1
Piscataway 1
Pognana Lario 1
Prato 1
Seattle 1
Shenyang 1
Taizhou 1
Toronto 1
Vancouver 1
Wenzhou 1
Yunfu 1
Zhengzhou 1
Totale 414
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Nome #
Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association 60
Loss-of-function FANCL mutations associate with severe fanconi anemia overlapping the VACTERL association 57
RFC1 expansions are a common cause of idiopathic sensory neuropathy 51
PSEN1 Compound Heterozygous Mutations Associated with Cerebral Amyloid Angiopathy and Cognitive Decline Phenotype 51
Alazami syndrome: Phenotypic expansion and clinical resemblance to Smith–Lemli–Opitz syndrome 50
Histologic heterogeneity and syndromic associations of non-ampullary duodenal polyps and superficial mucosal lesions 41
PUS3-related disorder: Report of a novel patient and delineation of the phenotypic spectrum 40
Relationship between adverse effects of antiepileptic drugs, number of coprescribed drugs, and drug load in a large cohort of consecutive patients with drug-refractory epilepsy 37
A novel variant in NEUROD2 in a patient with Rett-like phenotype points to Glu130 codon as a mutational hotspot 36
Mutation in RNF170 causes sensory ataxic neuropathy with vestibular areflexia: a CANVAS mimic 35
Movement Disorders in Genetic Pediatric Ataxias 30
Genotype-phenotype correlates in Joubert syndrome: A review 22
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome 10
PGAP2-Related Hyperphosphatasia-Mental Retardation Syndrome: Report of a Novel Patient, Toward a Broadening of Phenotypic Spectrum and Therapeutic Perspectives 9
National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy 4
Electroclinical Improvement in a Patient with Ring Chromosome 20 Syndrome Treated with Zonisamide: A Case Report 4
Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome 3
Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genes 1
Totale 541
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Categoria #
all - tutte 3.165
article - articoli 0
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 3.165
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/202018 0 0 0 0 0 0 4 0 0 3 4 7
2020/202118 0 0 0 1 1 2 0 5 0 8 0 1
2021/202251 1 0 0 0 1 1 0 8 1 1 9 29
2022/2023234 20 18 8 10 15 20 1 11 120 2 5 4
2023/2024115 14 17 4 3 7 21 3 12 3 6 9 16
2024/202573 10 13 5 9 4 32 0 0 0 0 0 0
Totale 541