IRIS
GALLI, LUCIA
 Distribuzione geografica
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Continente #
NA - Nord America 2.431
EU - Europa 1.395
AS - Asia 184
SA - Sud America 5
AF - Africa 1
OC - Oceania 1
Totale 4.017
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Nazione #
US - Stati Uniti d'America 2.426
GB - Regno Unito 427
IE - Irlanda 285
IT - Italia 173
CN - Cina 153
SE - Svezia 151
UA - Ucraina 129
FR - Francia 72
DE - Germania 62
FI - Finlandia 39
ES - Italia 21
BE - Belgio 14
NL - Olanda 11
VN - Vietnam 10
TR - Turchia 8
CA - Canada 5
RO - Romania 4
IR - Iran 3
JP - Giappone 3
AR - Argentina 2
BR - Brasile 2
IN - India 2
RU - Federazione Russa 2
AL - Albania 1
AM - Armenia 1
AU - Australia 1
BG - Bulgaria 1
CL - Cile 1
HK - Hong Kong 1
LV - Lettonia 1
MA - Marocco 1
OM - Oman 1
PK - Pakistan 1
PL - Polonia 1
SK - Slovacchia (Repubblica Slovacca) 1
TW - Taiwan 1
Totale 4.017
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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
Siena 90
Menlo Park 74
Princeton 42
Nanjing 37
Beijing 36
New York 35
Málaga 21
San Diego 19
Helsinki 18
Boardman 15
Lancaster 15
Washington 13
London 11
Tianjin 11
Dearborn 10
Dong Ket 10
Nanchang 10
San Mateo 10
Shenyang 9
Sovicille 9
Brussels 8
Izmir 7
Redwood City 7
Hebei 6
Waanrode 6
Hangzhou 5
Jiaxing 5
Shanghai 5
Toronto 5
Changsha 4
Jinan 4
Sinalunga 4
Zhengzhou 4
Campi Bisenzio 3
Düsseldorf 3
Guangzhou 3
Norwalk 3
Venezia 3
Zanjan 3
Aix-en-provence 2
Arezzo 2
Bonndorf 2
Buenos Aires 2
Cagnes-sur-mer 2
Chieti 2
Como 2
Kilburn 2
Kunming 2
La Jolla 2
Lanzhou 2
Los Angeles 2
Mestrino 2
Milan 2
Ningbo 2
Padova 2
Rome 2
Sacramento 2
Saint Petersburg 2
San Francisco 2
San Genesio Ed Uniti 2
São Paulo 2
Acton 1
Amsterdam 1
Bengaluru 1
Berlin 1
Bratislava 1
Castiglione D'orcia 1
Chengdu 1
Chicago 1
Denver 1
Florence 1
Fremont 1
Fuzhou 1
Haikou 1
Henderson 1
Hounslow 1
Islamabad 1
Langfang 1
Lappeenranta 1
Leawood 1
Leeds 1
Marshalltown 1
Melbourne 1
Miami 1
Paris 1
Phoenix 1
Pisa 1
Riga 1
Totale 3.285
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Nome #
Identification and characterization of three novel mutations in the CASQ1 gene in four patients with tubular aggregate myopathy 343
Resequencing the G6PT1 gene reveals a novel splicing mutation in a patient with glycogen storage disease type 1b 274
Attention-deficit/hyperactivity disorder (ADHD) and variable clinical expression of Aarskog-Scott syndrome due to a novel FGD1 gene mutation (R408Q) 204
Muscle biopsy and in vitro contracture test in subjects with idiopathic HyperCKemia 200
Novel PTEN mutations in neurodevelopmental disorders and macrocephaly 195
SCN1A mutation associated with atypical Panayiotopoulos syndrome 187
Inheritance of a novel RYR1 mutation in a family with myotonic dystrophy type 1 184
SCN1A (2528delG) novel truncating mutation with benign outcome of severe myoclonic epilepsy of infancy 177
Adult onset multi/minicore myopathy associated with a mutation in the RYR1 gene 172
Phenotypic and molecular characterisation of the Aarskog-Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients 167
Late-onset Lennox-Gastaut syndrome in a patient with 15q11.2-q13.1 duplication 165
Functional electrical stimulation: A possible strategy to improve muscle function in central core disease? 164
A mutation in the CASQ1 gene causes a vacuolar myopathy with accumulation of sarcoplasmic reticulum protein aggregates 161
A truncation in the RYR1 gene associated with central core lesions in skeletal muscle fibres 159
Mutational analysis of the SCN1A, SCN1B and GABRG2 genes in 150 Italian patients with idiopathic childhood epilepsies 148
MECP2 mutation in male patients with non-specific X-linked mental retardation 142
Mutations in the glucose-6-phosphate transporter (G6PT) gene in patients with glycogen storage diseases type 1b and 1c 142
Polymorphism of cytochrome P450 2D6 and its clinical significance in a sample of 73 consecutive patients 137
Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene 130
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 127
Prevalence of acquired resistance mutations in a large cohort of perinatally infected HIV-1 patients 125
Frequency and localization of mutations in the 106 exons of the RYR1 gene in 50 individuals with malignant hyperthermia 120
Unusually severe expression of craniofacial features in Aarskog-Scott syndrome due to a novel truncating mutation of the FGD1 gene 105
Simplification to High Genetic Barrier 2-Drug Regimens in People Living With HIV Harboring 4-Class Resistance Enrolled in the PRESTIGIO Registry 70
Ryanodine receptor 1 (RYR1) mutations in two patients with tubular aggregate myopathy 47
Totale 4.045
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Categoria #
all - tutte 10.793
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 10.793
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/2019378 0 0 0 0 0 0 0 0 0 79 159 140
2019/2020925 98 36 85 147 82 78 90 108 87 49 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
2023/2024437 13 6 35 20 16 172 164 5 4 2 0 0
Totale 4.045