MINARDI, RAFFAELLA
 Distribuzione geografica
Continente #
NA - Nord America 647
EU - Europa 561
AS - Asia 322
AF - Africa 33
Continente sconosciuto - Info sul continente non disponibili 1
Totale 1.564
Nazione #
US - Stati Uniti d'America 644
IT - Italia 194
SE - Svezia 119
SG - Singapore 112
CN - Cina 75
VN - Vietnam 62
DE - Germania 59
GB - Regno Unito 49
IE - Irlanda 35
IN - India 23
BG - Bulgaria 22
FI - Finlandia 22
JO - Giordania 18
RU - Federazione Russa 13
CI - Costa d'Avorio 12
CH - Svizzera 11
HK - Hong Kong 11
TG - Togo 11
FR - Francia 9
ID - Indonesia 8
NG - Nigeria 5
NL - Olanda 5
CA - Canada 3
PK - Pakistan 3
RS - Serbia 3
TR - Turchia 3
UA - Ucraina 3
AT - Austria 2
BE - Belgio 2
EE - Estonia 2
ES - Italia 2
GR - Grecia 2
HR - Croazia 2
IR - Iran 2
PH - Filippine 2
SK - Slovacchia (Repubblica Slovacca) 2
ZA - Sudafrica 2
BN - Brunei Darussalam 1
BT - Bhutan 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 1.564
Città #
Chandler 103
Singapore 97
Fairfield 46
Ashburn 42
Southend 41
Bologna 36
Dublin 35
Santa Clara 28
Boardman 26
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
Jakarta 8
New York 8
Rimini 8
Helsinki 7
Beijing 6
Desenzano del Garda 6
Abeokuta 5
Los Angeles 5
Naples 5
Rome 5
San Diego 5
Boydton 4
Brighton 4
Bühl 4
Ferrara 4
Hangzhou 4
Mülheim 4
Nuremberg 4
Rocca Di Papa 4
Sant'Elpidio a Mare 4
Shanghai 4
Shenzhen 4
Storm Lake 4
Belgrade 3
Berlin 3
Dortmund 3
Islamabad 3
Jinan 3
Medford 3
Mersin 3
Milan 3
Nanjing 3
Reggio Emilia 3
Saint Petersburg 3
Sant Angelo 3
Westminster 3
Bratislava 2
Brussels 2
Casoria 2
Catania 2
Cesena 2
Changsha 2
Como 2
Des Moines 2
Falkenstein 2
Fort Worth 2
Genoa 2
Giulianova 2
Haikou 2
Harbin 2
Jacksonville 2
Kashan 2
Kuban 2
Leawood 2
London 2
Marzabotto 2
Monzuno 2
Munich 2
Norcia 2
Perugia 2
Sassari 2
Sava 2
Shijiazhuang 2
Sorrento 2
Tappahannock 2
Toronto 2
Wuhan 2
Xi'an 2
Amsterdam 1
Athens 1
Bandar Seri Begawan 1
Baoding 1
Totale 989
Nome #
Contribution of ultrarare variants in mTOR pathway genes to sporadic focal epilepsies 180
Accurate Detection of Hot-Spot MTOR Somatic Mutations in Archival Surgical Specimens of Focal Cortical Dysplasia by Molecular Inversion Probes 148
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 129
DNA VIRAL INFECTIONS ASSAY IN KIDNEY TRANSPLANT RECIPIENTS BY A NEW HIGH THROUGHPUT MASS SPECTROMETRY METHOD 127
Epilepsy with auditory features: Contribution of known genes in 112 patients 125
Autosomal dominant lateral temporal lobe epilepsy associated with a novel reelin mutation 105
Epilepsy in MT-ATP6 - related mils/NARP: correlation of elettroclinical features with heteroplasmy 104
Polygenic burden in focal and generalized epilepsies 96
Epilepsy With Auditory Features: From Etiology to Treatment 86
Whole-exome sequencing in adult patients with developmental and epileptic encephalopathy: It is never too late 79
Epilepsy with eyelid myoclonias and Sotos syndrome features in a patient with compound heterozygous missense variants in APC2 gene 74
Complete Agenesis of Corpus Callosum in KCNQ2-Related Neonatal Epileptic Encephalopathy 48
Epilepsy and inborn errors of metabolism in adults: The diagnostic odyssey of a young woman with medium-chain acyl-coenzyme A dehydrogenase deficiency 44
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals 42
Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants 35
The Degree of Cardiovascular Autonomic Dysfunction is not Different in GBA-Related and Idiopathic Parkinson's Disease Patients: A Case-Control Instrumental Evaluation 32
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals 31
Biallelic pathogenic variants of PARS2 cause developmental and epileptic encephalopathy with spike-and-wave activation in sleep 30
TWNK in Parkinson's Disease: A Movement Disorder and Mitochondrial Disease Center Perspective Study 28
Prognostic value of pathogenic variants in Lafora Disease: systematic review and meta-analysis of patient-level data 26
Genome-wide meta-analysis of over 29,000 people with epilepsy reveals 26 loci and subtype-specific genetic architecture 26
Reply to: No Association between Rare TWNK Variants and Parkinson's Disease in European Cohorts 20
Mild neurological phenotype in a family carrying a novel N-terminal null GRIN2A variant 17
Totale 1.632
Categoria #
all - tutte 5.856
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 5.856


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/202047 0 0 0 0 0 0 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
2024/2025328 26 83 63 47 71 34 4 0 0 0 0 0
Totale 1.632