IRIS
GALLI, LUCIA
 Distribuzione geografica
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Continente #
NA - Nord America 3.237
EU - Europa 2.106
AS - Asia 770
SA - Sud America 102
AF - Africa 18
OC - Oceania 3
Totale 6.236
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Nazione #
US - Stati Uniti d'America 3.201
RU - Federazione Russa 459
GB - Regno Unito 447
CN - Cina 308
IE - Irlanda 285
SG - Singapore 266
IT - Italia 203
DE - Germania 190
SE - Svezia 154
UA - Ucraina 132
BR - Brasile 83
FI - Finlandia 81
FR - Francia 75
HK - Hong Kong 64
KR - Corea 42
VN - Vietnam 34
ES - Italia 26
CA - Canada 24
BE - Belgio 17
NL - Olanda 13
IN - India 11
TR - Turchia 9
AR - Argentina 8
ZA - Sudafrica 8
JP - Giappone 7
MX - Messico 7
BD - Bangladesh 6
LT - Lituania 4
RO - Romania 4
AT - Austria 3
AU - Australia 3
CO - Colombia 3
EC - Ecuador 3
IR - Iran 3
LV - Lettonia 3
MA - Marocco 3
PK - Pakistan 3
PL - Polonia 3
AE - Emirati Arabi Uniti 2
AL - Albania 2
EG - Egitto 2
ET - Etiopia 2
JO - Giordania 2
OM - Oman 2
PY - Paraguay 2
TN - Tunisia 2
AM - Armenia 1
BB - Barbados 1
BG - Bulgaria 1
BY - Bielorussia 1
CH - Svizzera 1
CI - Costa d'Avorio 1
CL - Cile 1
GE - Georgia 1
GT - Guatemala 1
HN - Honduras 1
IQ - Iraq 1
KG - Kirghizistan 1
MY - Malesia 1
NI - Nicaragua 1
PE - Perù 1
PH - Filippine 1
PS - Palestinian Territory 1
PT - Portogallo 1
SA - Arabia Saudita 1
SK - Slovacchia (Repubblica Slovacca) 1
SY - Repubblica araba siriana 1
TT - Trinidad e Tobago 1
TW - Taiwan 1
UY - Uruguay 1
UZ - Uzbekistan 1
Totale 6.236
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Città #
Fairfield 450
Southend 387
Dallas 378
Ashburn 294
Dublin 281
Woodbridge 203
Chandler 176
Seattle 171
Cambridge 162
Wilmington 159
Houston 155
Singapore 147
Ann Arbor 140
Moscow 117
Munich 112
Jacksonville 104
Santa Clara 100
Beijing 92
Siena 92
Menlo Park 74
Hong Kong 63
New York 52
Helsinki 48
Princeton 42
Seoul 42
Nanjing 37
Hefei 32
Los Angeles 29
Málaga 21
London 19
San Diego 19
Boardman 17
The Dalles 16
Lancaster 15
Washington 14
Buffalo 12
Council Bluffs 12
Tianjin 12
Brussels 11
Columbus 11
Ho Chi Minh City 11
Toronto 11
Atlanta 10
Dearborn 10
Dong Ket 10
Nanchang 10
San Mateo 10
Shenyang 9
Sovicille 9
São Paulo 9
Denver 8
Rome 8
Shanghai 8
Izmir 7
Redwood City 7
Turku 7
Brooklyn 6
Hebei 6
Nuremberg 6
San Jose 6
Waanrode 6
Chicago 5
Frankfurt am Main 5
Hangzhou 5
Jiaxing 5
Jinan 5
Johannesburg 5
Phoenix 5
Tokyo 5
Zhengzhou 5
Boston 4
Buenos Aires 4
Changsha 4
Düsseldorf 4
Florence 4
Guangzhou 4
Hanoi 4
Jyväskylä 4
Kunming 4
Milan 4
Montreal 4
Redondo Beach 4
Sinalunga 4
Bari 3
Campi Bisenzio 3
Chennai 3
Norwalk 3
Poplar 3
Riga 3
San Francisco 3
Stockholm 3
Venezia 3
Zanjan 3
Addis Ababa 2
Aix-en-provence 2
Alexandria 2
Amman 2
Arezzo 2
Belo Horizonte 2
Bengaluru 2
Totale 4.633
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Nome #
Identification and characterization of three novel mutations in the CASQ1 gene in four patients with tubular aggregate myopathy 429
Resequencing the G6PT1 gene reveals a novel splicing mutation in a patient with glycogen storage disease type 1b 339
Attention-deficit/hyperactivity disorder (ADHD) and variable clinical expression of Aarskog-Scott syndrome due to a novel FGD1 gene mutation (R408Q) 320
Prevalence of acquired resistance mutations in a large cohort of perinatally infected HIV-1 patients 306
Muscle biopsy and in vitro contracture test in subjects with idiopathic HyperCKemia 297
Novel PTEN mutations in neurodevelopmental disorders and macrocephaly 287
A truncation in the RYR1 gene associated with central core lesions in skeletal muscle fibres 275
A mutation in the CASQ1 gene causes a vacuolar myopathy with accumulation of sarcoplasmic reticulum protein aggregates 272
Late-onset Lennox-Gastaut syndrome in a patient with 15q11.2-q13.1 duplication 266
SCN1A (2528delG) novel truncating mutation with benign outcome of severe myoclonic epilepsy of infancy 266
Phenotypic and molecular characterisation of the Aarskog-Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients 262
Inheritance of a novel RYR1 mutation in a family with myotonic dystrophy type 1 258
Adult onset multi/minicore myopathy associated with a mutation in the RYR1 gene 257
Functional electrical stimulation: A possible strategy to improve muscle function in central core disease? 249
MECP2 mutation in male patients with non-specific X-linked mental retardation 241
Mutational analysis of the SCN1A, SCN1B and GABRG2 genes in 150 Italian patients with idiopathic childhood epilepsies 235
SCN1A mutation associated with atypical Panayiotopoulos syndrome 227
Polymorphism of cytochrome P450 2D6 and its clinical significance in a sample of 73 consecutive patients 226
Mutations in the glucose-6-phosphate transporter (G6PT) gene in patients with glycogen storage diseases type 1b and 1c 221
Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene 220
Mutations in the RYR1 gene in Italian patients at risk for malignant hyperthermia: evidence for a cluster of novel mutations in the C-terminal region 207
Frequency and localization of mutations in the 106 exons of the RYR1 gene in 50 individuals with malignant hyperthermia 202
Unusually severe expression of craniofacial features in Aarskog-Scott syndrome due to a novel truncating mutation of the FGD1 gene 141
Ryanodine receptor 1 (RYR1) mutations in two patients with tubular aggregate myopathy 138
Simplification to High Genetic Barrier 2-Drug Regimens in People Living With HIV Harboring 4-Class Resistance Enrolled in the PRESTIGIO Registry 123
Totale 6.264
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Categoria #
all - tutte 17.795
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 17.795
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021415 0 0 0 0 0 61 42 77 74 60 53 48
2021/2022407 23 60 16 23 22 8 26 44 20 28 39 98
2022/2023579 32 63 89 69 57 95 14 52 55 22 19 12
2023/2024462 13 6 35 20 16 172 164 5 4 5 2 20
2024/2025818 15 34 83 54 99 64 46 61 103 19 79 161
2025/20261.376 133 266 286 280 379 32 0 0 0 0 0 0
Totale 6.264