IRIS
GALLI, LUCIA
 Distribuzione geografica
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Continente #
NA - Nord America 2.578
EU - Europa 1.686
AS - Asia 313
SA - Sud America 44
AF - Africa 3
OC - Oceania 3
Totale 4.627
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Nazione #
US - Stati Uniti d'America 2.568
GB - Regno Unito 435
IE - Irlanda 285
IT - Italia 191
DE - Germania 171
CN - Cina 170
SE - Svezia 151
UA - Ucraina 131
RU - Federazione Russa 107
SG - Singapore 100
FI - Finlandia 75
FR - Francia 72
BR - Brasile 35
ES - Italia 22
BE - Belgio 17
NL - Olanda 12
VN - Vietnam 10
CA - Canada 9
TR - Turchia 8
AR - Argentina 5
HK - Hong Kong 4
RO - Romania 4
AU - Australia 3
IN - India 3
IR - Iran 3
JP - Giappone 3
LV - Lettonia 3
AL - Albania 2
EC - Ecuador 2
LT - Lituania 2
OM - Oman 2
PK - Pakistan 2
AM - Armenia 1
AT - Austria 1
BD - Bangladesh 1
BG - Bulgaria 1
CH - Svizzera 1
CI - Costa d'Avorio 1
CL - Cile 1
GE - Georgia 1
JO - Giordania 1
KG - Kirghizistan 1
MA - Marocco 1
MX - Messico 1
MY - Malesia 1
PL - Polonia 1
PT - Portogallo 1
PY - Paraguay 1
SK - Slovacchia (Repubblica Slovacca) 1
TW - Taiwan 1
UZ - Uzbekistan 1
ZA - Sudafrica 1
Totale 4.627
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Città #
Fairfield 450
Southend 387
Dublin 281
Ashburn 252
Woodbridge 203
Chandler 176
Seattle 168
Cambridge 162
Wilmington 159
Houston 149
Ann Arbor 140
Jacksonville 104
Munich 95
Santa Clara 93
Siena 92
Menlo Park 74
Helsinki 48
Princeton 42
Singapore 39
Nanjing 37
Beijing 36
New York 35
Málaga 21
San Diego 19
Boardman 17
London 17
Lancaster 15
Washington 13
Council Bluffs 12
Moscow 12
Brussels 11
Tianjin 11
Dearborn 10
Dong Ket 10
Nanchang 10
San Mateo 10
Shenyang 9
Sovicille 9
Shanghai 8
Izmir 7
Los Angeles 7
Redwood City 7
Toronto 7
Hebei 6
Waanrode 6
Hangzhou 5
Jiaxing 5
Jinan 5
Nuremberg 5
São Paulo 5
The Dalles 5
Zhengzhou 5
Buenos Aires 4
Changsha 4
Düsseldorf 4
Frankfurt am Main 4
Jyväskylä 4
Kunming 4
Sinalunga 4
Bari 3
Campi Bisenzio 3
Guangzhou 3
Hong Kong 3
Milan 3
Norwalk 3
Riga 3
Rome 3
Venezia 3
Zanjan 3
Aix-en-provence 2
Arezzo 2
Berlin 2
Bonndorf 2
Cagnes-sur-mer 2
Cascina 2
Chicago 2
Chieti 2
Como 2
Falkenstein 2
Florence 2
Kilburn 2
La Jolla 2
Lanzhou 2
Lozzolo 2
Manaus 2
Mestrino 2
Ningbo 2
Ottawa 2
Padova 2
Perugia 2
Roccascalegna 2
Sacramento 2
Saint Petersburg 2
San Francisco 2
San Genesio Ed Uniti 2
Abbottabad 1
Abidjan 1
Acton 1
Adelaide 1
Ambrolauri 1
Totale 3.626
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Nome #
Identification and characterization of three novel mutations in the CASQ1 gene in four patients with tubular aggregate myopathy 368
Resequencing the G6PT1 gene reveals a novel splicing mutation in a patient with glycogen storage disease type 1b 294
Prevalence of acquired resistance mutations in a large cohort of perinatally infected HIV-1 patients 263
Muscle biopsy and in vitro contracture test in subjects with idiopathic HyperCKemia 225
Attention-deficit/hyperactivity disorder (ADHD) and variable clinical expression of Aarskog-Scott syndrome due to a novel FGD1 gene mutation (R408Q) 224
Novel PTEN mutations in neurodevelopmental disorders and macrocephaly 213
Inheritance of a novel RYR1 mutation in a family with myotonic dystrophy type 1 204
SCN1A mutation associated with atypical Panayiotopoulos syndrome 201
SCN1A (2528delG) novel truncating mutation with benign outcome of severe myoclonic epilepsy of infancy 193
Phenotypic and molecular characterisation of the Aarskog-Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients 190
A truncation in the RYR1 gene associated with central core lesions in skeletal muscle fibres 189
Adult onset multi/minicore myopathy associated with a mutation in the RYR1 gene 188
Functional electrical stimulation: A possible strategy to improve muscle function in central core disease? 185
Late-onset Lennox-Gastaut syndrome in a patient with 15q11.2-q13.1 duplication 184
A mutation in the CASQ1 gene causes a vacuolar myopathy with accumulation of sarcoplasmic reticulum protein aggregates 183
Mutational analysis of the SCN1A, SCN1B and GABRG2 genes in 150 Italian patients with idiopathic childhood epilepsies 163
MECP2 mutation in male patients with non-specific X-linked mental retardation 163
Mutations in the glucose-6-phosphate transporter (G6PT) gene in patients with glycogen storage diseases type 1b and 1c 163
Polymorphism of cytochrome P450 2D6 and its clinical significance in a sample of 73 consecutive patients 153
Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene 146
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 144
Frequency and localization of mutations in the 106 exons of the RYR1 gene in 50 individuals with malignant hyperthermia 139
Unusually severe expression of craniofacial features in Aarskog-Scott syndrome due to a novel truncating mutation of the FGD1 gene 118
Simplification to High Genetic Barrier 2-Drug Regimens in People Living With HIV Harboring 4-Class Resistance Enrolled in the PRESTIGIO Registry 88
Ryanodine receptor 1 (RYR1) mutations in two patients with tubular aggregate myopathy 74
Totale 4.655
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Categoria #
all - tutte 14.414
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 14.414
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/202065 0 0 0 0 0 0 0 0 0 0 21 44
2020/2021750 31 115 42 94 53 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
2024/2025585 15 34 83 54 99 64 46 61 103 19 7 0
Totale 4.655