CRIS Current Research Information System

MINARDI, RAFFAELLA
 Distribuzione geografica
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Continente #
AS - Asia 1.436
NA - Nord America 894
EU - Europa 787
AF - Africa 76
SA - Sud America 61
Continente sconosciuto - Info sul continente non disponibili 1
Totale 3.255
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Nazione #
US - Stati Uniti d'America 883
VN - Vietnam 405
SG - Singapore 390
CN - Cina 358
IT - Italia 248
SE - Svezia 120
HK - Hong Kong 117
DE - Germania 95
KR - Corea 68
GB - Regno Unito 60
NL - Olanda 56
BR - Brasile 46
IE - Irlanda 38
IN - India 35
RU - Federazione Russa 35
CI - Costa d'Avorio 32
FI - Finlandia 31
FR - Francia 25
BG - Bulgaria 22
JO - Giordania 18
SC - Seychelles 13
CH - Svizzera 11
TG - Togo 11
JP - Giappone 10
AT - Austria 9
ID - Indonesia 9
CA - Canada 8
PL - Polonia 8
AR - Argentina 7
ZA - Sudafrica 7
NG - Nigeria 6
BE - Belgio 5
BD - Bangladesh 4
ES - Italia 4
RS - Serbia 4
CO - Colombia 3
EC - Ecuador 3
IQ - Iraq 3
PK - Pakistan 3
TR - Turchia 3
UA - Ucraina 3
EE - Estonia 2
GR - Grecia 2
HR - Croazia 2
IR - Iran 2
KZ - Kazakistan 2
MX - Messico 2
PH - Filippine 2
SK - Slovacchia (Repubblica Slovacca) 2
UZ - Uzbekistan 2
AD - Andorra 1
BA - Bosnia-Erzegovina 1
BH - Bahrain 1
BN - Brunei Darussalam 1
BT - Bhutan 1
DK - Danimarca 1
DZ - Algeria 1
EG - Egitto 1
EU - Europa 1
GH - Ghana 1
IL - Israele 1
KE - Kenya 1
LT - Lituania 1
PA - Panama 1
PY - Paraguay 1
RO - Romania 1
SA - Arabia Saudita 1
SN - Senegal 1
TN - Tunisia 1
UG - Uganda 1
VE - Venezuela 1
Totale 3.255
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Città #
Singapore 277
Hefei 161
Ashburn 148
Hong Kong 116
Chandler 103
Ho Chi Minh City 99
Hanoi 93
Seoul 68
Bologna 56
Fairfield 46
Southend 41
Beijing 40
Dublin 38
Santa Clara 33
Abidjan 32
Boardman 30
Redmond 26
Dong Ket 24
Los Angeles 24
Princeton 24
Sofia 22
Ann Arbor 20
Florence 19
Lappeenranta 19
Wilmington 19
Amman 18
Houston 17
Woodbridge 17
Haiphong 16
Munich 16
New York 16
Turin 16
Cambridge 15
Dallas 14
Redondo Beach 13
Bengaluru 12
Lomé 11
Nuremberg 11
Falls Church 10
Ha Long 10
Seattle 10
Tokyo 10
Bern 9
Biên Hòa 9
Milan 9
Quận Bình Thạnh 9
Da Nang 8
Helsinki 8
Jakarta 8
Rimini 8
Amsterdam 7
Frankfurt am Main 7
Modena 7
Vũng Tàu 7
Warsaw 7
Điện Bàn 7
Desenzano del Garda 6
Hải Dương 6
Rome 6
Abeokuta 5
Buffalo 5
Bắc Ninh 5
Falkenstein 5
Naples 5
San Diego 5
Tongling 5
Boydton 4
Brighton 4
Brussels 4
Bühl 4
Düsseldorf 4
Ferrara 4
Genoa 4
Hangzhou 4
Johannesburg 4
Manchester 4
Mülheim 4
Nam Định 4
Quận Phú Nhuận 4
Rocca Di Papa 4
Sant'Elpidio a Mare 4
Shanghai 4
Shenzhen 4
Storm Lake 4
Thái Nguyên 4
Belgrade 3
Berlin 3
Boston 3
Brooklyn 3
Bạc Liêu 3
Bắc Giang 3
Cesena 3
Dortmund 3
Islamabad 3
Jinan 3
London 3
Medellín 3
Medford 3
Mersin 3
Nanjing 3
Totale 2.094
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Nome #
Prognostic value of pathogenic variants in Lafora Disease: systematic review and meta-analysis of patient-level data 335
Contribution of ultrarare variants in mTOR pathway genes to sporadic focal epilepsies 225
Accurate Detection of Hot-Spot MTOR Somatic Mutations in Archival Surgical Specimens of Focal Cortical Dysplasia by Molecular Inversion Probes 198
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 171
Epilepsy with auditory features: Contribution of known genes in 112 patients 171
DNA VIRAL INFECTIONS ASSAY IN KIDNEY TRANSPLANT RECIPIENTS BY A NEW HIGH THROUGHPUT MASS SPECTROMETRY METHOD 166
Epilepsy in MT-ATP6 - related mils/NARP: correlation of elettroclinical features with heteroplasmy 144
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals 143
Autosomal dominant lateral temporal lobe epilepsy associated with a novel reelin mutation 133
Epilepsy With Auditory Features: From Etiology to Treatment 133
Whole-exome sequencing in adult patients with developmental and epileptic encephalopathy: It is never too late 129
Biallelic pathogenic variants of PARS2 cause developmental and epileptic encephalopathy with spike-and-wave activation in sleep 128
Epilepsy and inborn errors of metabolism in adults: The diagnostic odyssey of a young woman with medium-chain acyl-coenzyme A dehydrogenase deficiency 128
Polygenic burden in focal and generalized epilepsies 125
Erratum: Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals (The American Journal of Human Genetics (2021) 108(6) (965–982), (S0002929721001403), (10.1016/j.ajhg.2021.04.009)) 118
Complete Agenesis of Corpus Callosum in KCNQ2-Related Neonatal Epileptic Encephalopathy 117
TWNK in Parkinson's Disease: A Movement Disorder and Mitochondrial Disease Center Perspective Study 116
The Degree of Cardiovascular Autonomic Dysfunction is not Different in GBA-Related and Idiopathic Parkinson's Disease Patients: A Case-Control Instrumental Evaluation 116
Epilepsy with eyelid myoclonias and Sotos syndrome features in a patient with compound heterozygous missense variants in APC2 gene 107
Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants 106
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals 79
Genome-wide meta-analysis of over 29,000 people with epilepsy reveals 26 loci and subtype-specific genetic architecture 62
RAB32 mutation in Parkinson's disease 59
Mild neurological phenotype in a family carrying a novel N-terminal null GRIN2A variant 56
Reply to: No Association between Rare TWNK Variants and Parkinson's Disease in European Cohorts 44
Long-Term Motor and Cognitive Outcome of Deep Brain Stimulation in Patients With Parkinson Disease With a GBA1 Pathogenic Variant 26
Totale 3.335
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Categoria #
all - tutte 9.677
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 9.677
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021169 0 0 0 0 0 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
2024/2025752 26 83 63 47 71 34 44 25 13 69 88 189
2025/20261.279 419 269 161 162 197 71 0 0 0 0 0 0
Totale 3.335