MINARDI, RAFFAELLA
 Distribuzione geografica
Continente #
NA - Nord America 591
EU - Europa 512
AS - Asia 222
AF - Africa 33
Continente sconosciuto - Info sul continente non disponibili 1
Totale 1.359
Nazione #
US - Stati Uniti d'America 590
IT - Italia 164
SE - Svezia 119
SG - Singapore 69
VN - Vietnam 62
DE - Germania 51
GB - Regno Unito 49
IE - Irlanda 35
CN - Cina 27
IN - India 23
BG - Bulgaria 22
FI - Finlandia 19
JO - Giordania 18
CI - Costa d'Avorio 12
CH - Svizzera 11
RU - Federazione Russa 11
TG - Togo 11
HK - Hong Kong 10
FR - Francia 9
NG - Nigeria 5
PK - Pakistan 3
RS - Serbia 3
TR - Turchia 3
UA - Ucraina 3
EE - Estonia 2
ES - Italia 2
GR - Grecia 2
HR - Croazia 2
IR - Iran 2
NL - Olanda 2
PH - Filippine 2
SK - Slovacchia (Repubblica Slovacca) 2
ZA - Sudafrica 2
BE - Belgio 1
BN - Brunei Darussalam 1
BT - Bhutan 1
CA - Canada 1
DK - Danimarca 1
EG - Egitto 1
EU - Europa 1
PL - Polonia 1
RO - Romania 1
SN - Senegal 1
UG - Uganda 1
UZ - Uzbekistan 1
Totale 1.359
Città #
Chandler 103
Singapore 61
Fairfield 46
Ashburn 42
Southend 41
Dublin 35
Bologna 29
Redmond 26
Dong Ket 24
Princeton 24
Sofia 22
Ann Arbor 20
Wilmington 19
Amman 18
Florence 18
Woodbridge 17
Houston 16
Turin 16
Cambridge 15
Lappeenranta 15
Abidjan 12
Lomé 11
Falls Church 10
Hong Kong 10
Seattle 10
Bern 9
Santa Clara 9
New York 8
Rimini 8
Beijing 6
Desenzano del Garda 6
Abeokuta 5
Los Angeles 5
San Diego 5
Boydton 4
Brighton 4
Bühl 4
Ferrara 4
Helsinki 4
Mülheim 4
Rocca Di Papa 4
Storm Lake 4
Belgrade 3
Berlin 3
Boardman 3
Dortmund 3
Islamabad 3
Jinan 3
Medford 3
Mersin 3
Milan 3
Nanjing 3
Reggio Emilia 3
Rome 3
Saint Petersburg 3
Sant Angelo 3
Westminster 3
Bratislava 2
Casoria 2
Catania 2
Cesena 2
Como 2
Des Moines 2
Genoa 2
Giulianova 2
Haikou 2
Jacksonville 2
Kashan 2
Kuban 2
Leawood 2
London 2
Marzabotto 2
Monzuno 2
Norcia 2
Perugia 2
Sassari 2
Sava 2
Shenzhen 2
Sorrento 2
Tappahannock 2
Wuhan 2
Amsterdam 1
Athens 1
Bandar Seri Begawan 1
Bardolino 1
Barletta 1
Bremen 1
Brussels 1
Bucharest 1
Buonabitacolo 1
Cairo 1
Castellamonte 1
Cernusco sul Naviglio 1
Clearwater 1
Davao City 1
Edmonton 1
Etten 1
Fremont 1
Hangzhou 1
Hebei 1
Totale 865
Nome #
Contribution of ultrarare variants in mTOR pathway genes to sporadic focal epilepsies 164
Accurate Detection of Hot-Spot MTOR Somatic Mutations in Archival Surgical Specimens of Focal Cortical Dysplasia by Molecular Inversion Probes 143
Gene Panel Analysis in a Large Cohort of Patients With Autosomal Dominant Polycystic Kidney Disease Allows the Identification of 80 Potentially Causative Novel Variants and the Characterization of a Complex Genetic Architecture in a Subset of Families 120
DNA VIRAL INFECTIONS ASSAY IN KIDNEY TRANSPLANT RECIPIENTS BY A NEW HIGH THROUGHPUT MASS SPECTROMETRY METHOD 118
Epilepsy with auditory features: Contribution of known genes in 112 patients 117
Autosomal dominant lateral temporal lobe epilepsy associated with a novel reelin mutation 99
Epilepsy in MT-ATP6 - related mils/NARP: correlation of elettroclinical features with heteroplasmy 99
Polygenic burden in focal and generalized epilepsies 89
Epilepsy With Auditory Features: From Etiology to Treatment 73
Whole-exome sequencing in adult patients with developmental and epileptic encephalopathy: It is never too late 72
Epilepsy with eyelid myoclonias and Sotos syndrome features in a patient with compound heterozygous missense variants in APC2 gene 68
Complete Agenesis of Corpus Callosum in KCNQ2-Related Neonatal Epileptic Encephalopathy 40
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals 37
Epilepsy and inborn errors of metabolism in adults: The diagnostic odyssey of a young woman with medium-chain acyl-coenzyme A dehydrogenase deficiency 32
Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants 27
TWNK in Parkinson's Disease: A Movement Disorder and Mitochondrial Disease Center Perspective Study 21
Biallelic pathogenic variants of PARS2 cause developmental and epileptic encephalopathy with spike-and-wave activation in sleep 18
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals 18
Genome-wide meta-analysis of over 29,000 people with epilepsy reveals 26 loci and subtype-specific genetic architecture 17
Prognostic value of pathogenic variants in Lafora Disease: systematic review and meta-analysis of patient-level data 15
The Degree of Cardiovascular Autonomic Dysfunction is not Different in GBA-Related and Idiopathic Parkinson's Disease Patients: A Case-Control Instrumental Evaluation 14
Mild neurological phenotype in a family carrying a novel N-terminal null GRIN2A variant 14
Reply to: No Association between Rare TWNK Variants and Parkinson's Disease in European Cohorts 11
Totale 1.426
Categoria #
all - tutte 4.911
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 4.911


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/202059 0 0 0 3 4 5 12 7 11 9 5 3
2020/2021248 38 11 0 4 26 22 6 28 35 13 8 57
2021/2022317 27 4 15 26 26 15 4 30 17 46 73 34
2022/2023450 31 39 17 51 39 35 18 26 96 22 61 15
2023/2024199 14 28 9 20 8 25 13 26 12 19 15 10
2024/2025122 26 83 13 0 0 0 0 0 0 0 0 0
Totale 1.426