MONTOMOLI, MARTINO
 Distribuzione geografica
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Continente #
NA - Nord America 1.754
EU - Europa 1.220
AS - Asia 993
SA - Sud America 240
Continente sconosciuto - Info sul continente non disponibili 35
AF - Africa 30
OC - Oceania 26
Totale 4.298
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Nazione #
US - Stati Uniti d'America 1.706
RU - Federazione Russa 454
IT - Italia 340
SG - Singapore 271
CN - Cina 222
BR - Brasile 188
HK - Hong Kong 151
VN - Vietnam 137
PL - Polonia 95
IE - Irlanda 82
KR - Corea 79
FI - Finlandia 52
DE - Germania 46
FR - Francia 37
SE - Svezia 36
CA - Canada 27
IN - India 27
AU - Australia 25
BD - Bangladesh 22
NL - Olanda 19
JO - Giordania 17
GB - Regno Unito 16
ID - Indonesia 16
CH - Svizzera 15
AR - Argentina 14
EC - Ecuador 11
PY - Paraguay 10
ZA - Sudafrica 10
IQ - Iraq 8
JP - Giappone 8
AT - Austria 7
CI - Costa d'Avorio 6
CO - Colombia 5
HN - Honduras 5
MX - Messico 5
MY - Malesia 5
PK - Pakistan 5
UA - Ucraina 5
UZ - Uzbekistan 5
CL - Cile 4
VE - Venezuela 4
AE - Emirati Arabi Uniti 3
BE - Belgio 3
ES - Italia 3
GR - Grecia 3
MA - Marocco 3
SA - Arabia Saudita 3
TN - Tunisia 3
DO - Repubblica Dominicana 2
EG - Egitto 2
HU - Ungheria 2
IR - Iran 2
JM - Giamaica 2
KZ - Kazakistan 2
LB - Libano 2
NP - Nepal 2
PE - Perù 2
PH - Filippine 2
PR - Porto Rico 2
PS - Palestinian Territory 2
AZ - Azerbaigian 1
BJ - Benin 1
BO - Bolivia 1
BQ - ???statistics.table.value.countryCode.BQ??? 1
BS - Bahamas 1
CR - Costa Rica 1
CZ - Repubblica Ceca 1
DK - Danimarca 1
ET - Etiopia 1
GA - Gabon 1
HT - Haiti 1
KE - Kenya 1
LA - Repubblica Popolare Democratica del Laos 1
LT - Lituania 1
MD - Moldavia 1
NG - Nigeria 1
NZ - Nuova Zelanda 1
PA - Panama 1
SI - Slovenia 1
SN - Senegal 1
UY - Uruguay 1
VG - Isole Vergini Britanniche 1
XK - ???statistics.table.value.countryCode.XK??? 1
Totale 4.265
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Città #
Santa Clara 501
Singapore 213
Ashburn 212
Hong Kong 135
Fairfield 103
Warsaw 95
Dublin 82
Seoul 79
Milan 64
San Jose 53
Ho Chi Minh City 49
Hefei 47
Seattle 46
Rome 42
Beijing 40
Council Bluffs 39
Los Angeles 38
Helsinki 37
Cambridge 34
Florence 33
Lawrence 32
Houston 31
The Dalles 31
Wilmington 31
Woodbridge 29
Altamura 26
Moscow 26
Hanoi 25
Melbourne 24
Dallas 23
Princeton 22
Chandler 21
Lauterbourg 21
Mumbai 17
Boston 16
Buffalo 16
New York 16
Kent 13
Munich 13
São Paulo 13
Ann Arbor 12
Bern 12
San Diego 12
Shanghai 12
Medford 11
Phoenix 11
Bologna 10
Clifton 10
Frankfurt am Main 10
Haiphong 10
Jakarta 10
Lappeenranta 10
Boardman 9
Paris 9
Naples 8
Rio de Janeiro 8
Brasília 7
Medicina 7
Orem 7
Abidjan 6
Bari 6
Chicago 6
Johannesburg 6
Nuremberg 6
Tianjin 6
Toronto 6
Biên Hòa 5
Brooklyn 5
Falls Church 5
Guayaquil 5
San Francisco 5
Tashkent 5
Tokyo 5
Turku 5
Yubileyny 5
Asunción 4
Atlanta 4
Belo Horizonte 4
Cesano Boscone 4
Curitiba 4
Denver 4
Dong Ket 4
Redondo Beach 4
Ribeirão Preto 4
Verona 4
Amsterdam 3
Andover 3
Baghdad 3
Basra 3
Bengaluru 3
Can Tho 3
Caracas 3
Charlotte 3
Dhaka 3
Goiânia 3
Guarulhos 3
Kuala Lumpur 3
London 3
Maceió 3
Mikagenakamachi 3
Totale 2.745
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Nome #
Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS - like clinical syndrome 241
A novel SLC5A6 homozygous variant in a family with multivitamin-dependent neurometabolic disorder: Phenotype expansion and long-term follow-up 238
Multiorgan manifestations of COL4A1 and COL4A2 variants and proposal for a clinical management protocol 210
NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns 199
Delineating SPTAN1 associated phenotypes : from isolated epilepsy to encephalopathy with progressive brain atrophy 194
Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes 193
Epilepsy surgery of "low grade epilepsy associated neuroepithelial tumors" 190
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals 173
The Diagnostic Approach to Mitochondrial Disorders in Children in the Era of Next-Generation Sequencing: A 4-Year Cohort Study 171
Deciphering the premature mortality in PIGA-CDG - An untold story 158
GNAO1 encephalopathy : broadening the phenotype and evaluating treatment and outcome. 154
Basal Ganglia Dysmorphism in Patients With Aicardi Syndrome 154
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)) 153
Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome 152
The phenotype of SCN8A developmental and epileptic encephalopathy 144
Real-life survey of pitfalls and successes of precision medicine in genetic epilepsies 142
Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17458 subjects 139
Biochemical data from the characterization of a new pathogenic mutation of human pyridoxine-5'-phosphate oxidase (PNPO). 138
Polygenic burden in focal and generalized epilepsies 137
GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture 134
Whole exome sequencing in a cohort of 48 trios with neurodevelopmental disorders 129
Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals 129
Neuroimaging in mitochondrial disorders 127
Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental andepileptic encephalopathies: 27 new patients and overview of the literature 126
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes 120
Pyridoxine - 5'-phosphate oxidase (Pnpo) deficiency : clinical and biochemical alterations associated with the C.347g>A(P:Arg116gln) mutation" 114
Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9 95
Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome 23
Lessons learned from 40 novel PIGA patients and a review of the literature 21
Totale 4.298
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Categoria #
all - tutte 13.286
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 13.286
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022118 0 0 10 4 3 2 0 25 16 4 12 42
2022/2023283 31 63 15 9 2 47 49 9 32 2 11 13
2023/2024171 6 16 25 15 13 16 5 42 1 16 12 4
2024/20251.394 72 125 78 215 392 214 24 87 43 40 50 54
2025/20261.675 177 234 178 241 170 65 137 79 86 107 47 154
2026/2027231 139 56 36 0 0 0 0 0 0 0 0 0
Totale 4.298