IRIS
GALLI, LUCIA
 Distribuzione geografica
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Continente #
NA - Nord America 3.471
EU - Europa 2.281
AS - Asia 932
SA - Sud America 115
AF - Africa 39
OC - Oceania 4
Totale 6.842
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Nazione #
US - Stati Uniti d'America 3.422
RU - Federazione Russa 459
GB - Regno Unito 455
CN - Cina 326
SG - Singapore 314
IT - Italia 313
IE - Irlanda 285
DE - Germania 193
SE - Svezia 154
UA - Ucraina 133
FR - Francia 99
FI - Finlandia 97
BR - Brasile 88
VN - Vietnam 85
HK - Hong Kong 66
KR - Corea 42
CA - Canada 31
ES - Italia 29
ZA - Sudafrica 25
BD - Bangladesh 20
IN - India 19
NL - Olanda 18
BE - Belgio 17
TR - Turchia 13
AR - Argentina 10
MX - Messico 8
JP - Giappone 7
PK - Pakistan 7
PL - Polonia 7
AU - Australia 4
CO - Colombia 4
EC - Ecuador 4
IQ - Iraq 4
LT - Lituania 4
NG - Nigeria 4
RO - Romania 4
AT - Austria 3
IR - Iran 3
JO - Giordania 3
LV - Lettonia 3
MA - Marocco 3
PY - Paraguay 3
SA - Arabia Saudita 3
AE - Emirati Arabi Uniti 2
AL - Albania 2
AZ - Azerbaigian 2
CH - Svizzera 2
CL - Cile 2
EG - Egitto 2
ET - Etiopia 2
GD - Grenada 2
JM - Giamaica 2
NI - Nicaragua 2
OM - Oman 2
SY - Repubblica araba siriana 2
TN - Tunisia 2
TW - Taiwan 2
UZ - Uzbekistan 2
VE - Venezuela 2
AM - Armenia 1
BB - Barbados 1
BG - Bulgaria 1
BY - Bielorussia 1
CI - Costa d'Avorio 1
GE - Georgia 1
GT - Guatemala 1
HN - Honduras 1
KG - Kirghizistan 1
MM - Myanmar 1
MY - Malesia 1
NP - Nepal 1
PE - Perù 1
PH - Filippine 1
PS - Palestinian Territory 1
PT - Portogallo 1
SK - Slovacchia (Repubblica Slovacca) 1
TT - Trinidad e Tobago 1
UY - Uruguay 1
Totale 6.842
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Città #
Fairfield 450
Southend 387
Dallas 380
Ashburn 315
Dublin 281
Woodbridge 203
Chandler 176
Singapore 176
Seattle 172
Cambridge 162
Wilmington 159
Houston 155
Ann Arbor 140
Moscow 117
Munich 112
Santa Clara 109
Jacksonville 105
Beijing 92
Siena 92
Menlo Park 74
San Jose 72
Hong Kong 65
Helsinki 63
Milan 61
New York 55
Princeton 42
Seoul 42
Council Bluffs 40
Hefei 40
Nanjing 37
Los Angeles 33
Rome 33
Ho Chi Minh City 32
The Dalles 26
Johannesburg 21
Málaga 21
London 20
San Diego 20
Lauterbourg 19
Boardman 17
Hanoi 15
Lancaster 15
Washington 15
Buffalo 13
Atlanta 12
Columbus 12
Orem 12
Tianjin 12
Toronto 12
Brussels 11
Dearborn 10
Dong Ket 10
Nanchang 10
San Mateo 10
Denver 9
Shenyang 9
Sovicille 9
São Paulo 9
Shanghai 8
Brooklyn 7
Izmir 7
Redwood City 7
Turku 7
Chennai 6
Frankfurt am Main 6
Hebei 6
Nuremberg 6
Phoenix 6
Waanrode 6
Chicago 5
Florence 5
Hangzhou 5
Jiaxing 5
Jinan 5
Montreal 5
Tokyo 5
Warsaw 5
Zhengzhou 5
Abuja 4
Amsterdam 4
Boston 4
Buenos Aires 4
Changsha 4
Düsseldorf 4
Guangzhou 4
Haiphong 4
Jyväskylä 4
Kunming 4
Redondo Beach 4
San Francisco 4
Sinalunga 4
Amman 3
Bari 3
Bexley 3
Calgary 3
Campi Bisenzio 3
Da Nang 3
Figino 3
Fisciano 3
Mumbai 3
Totale 5.017
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Nome #
Identification and characterization of three novel mutations in the CASQ1 gene in four patients with tubular aggregate myopathy 473
Resequencing the G6PT1 gene reveals a novel splicing mutation in a patient with glycogen storage disease type 1b 356
Attention-deficit/hyperactivity disorder (ADHD) and variable clinical expression of Aarskog-Scott syndrome due to a novel FGD1 gene mutation (R408Q) 337
Prevalence of acquired resistance mutations in a large cohort of perinatally infected HIV-1 patients 332
Muscle biopsy and in vitro contracture test in subjects with idiopathic HyperCKemia 328
Novel PTEN mutations in neurodevelopmental disorders and macrocephaly 306
A mutation in the CASQ1 gene causes a vacuolar myopathy with accumulation of sarcoplasmic reticulum protein aggregates 296
SCN1A (2528delG) novel truncating mutation with benign outcome of severe myoclonic epilepsy of infancy 293
A truncation in the RYR1 gene associated with central core lesions in skeletal muscle fibres 292
Late-onset Lennox-Gastaut syndrome in a patient with 15q11.2-q13.1 duplication 289
Functional electrical stimulation: A possible strategy to improve muscle function in central core disease? 289
Phenotypic and molecular characterisation of the Aarskog-Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients 282
Adult onset multi/minicore myopathy associated with a mutation in the RYR1 gene 277
Inheritance of a novel RYR1 mutation in a family with myotonic dystrophy type 1 271
MECP2 mutation in male patients with non-specific X-linked mental retardation 268
Mutational analysis of the SCN1A, SCN1B and GABRG2 genes in 150 Italian patients with idiopathic childhood epilepsies 250
SCN1A mutation associated with atypical Panayiotopoulos syndrome 244
Mutations in the glucose-6-phosphate transporter (G6PT) gene in patients with glycogen storage diseases type 1b and 1c 242
Polymorphism of cytochrome P450 2D6 and its clinical significance in a sample of 73 consecutive patients 241
Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene 238
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 232
Frequency and localization of mutations in the 106 exons of the RYR1 gene in 50 individuals with malignant hyperthermia 213
Ryanodine receptor 1 (RYR1) mutations in two patients with tubular aggregate myopathy 178
Unusually severe expression of craniofacial features in Aarskog-Scott syndrome due to a novel truncating mutation of the FGD1 gene 156
Simplification to High Genetic Barrier 2-Drug Regimens in People Living With HIV Harboring 4-Class Resistance Enrolled in the PRESTIGIO Registry 143
Identification of novel potentially causative RYR1 variants in individuals with malignant hyperthermia susceptibility 47
Totale 6.873
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Categoria #
all - tutte 19.696
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 19.696
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
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
2025/20261.935 133 266 286 280 379 57 156 55 65 87 50 121
2026/202750 50 0 0 0 0 0 0 0 0 0 0 0
Totale 6.873