IRIS
PAPA, FILOMENA TIZIANA
 Distribuzione geografica
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Continente #
NA - Nord America 1.546
EU - Europa 1.292
AS - Asia 229
OC - Oceania 4
SA - Sud America 4
AF - Africa 2
Totale 3.077
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Nazione #
US - Stati Uniti d'America 1.543
GB - Regno Unito 296
IT - Italia 221
IE - Irlanda 214
CN - Cina 153
SE - Svezia 110
RU - Federazione Russa 95
DE - Germania 91
UA - Ucraina 90
FR - Francia 65
FI - Finlandia 46
SG - Singapore 45
BE - Belgio 19
ES - Italia 17
TR - Turchia 14
CZ - Repubblica Ceca 9
VN - Vietnam 8
NL - Olanda 7
AU - Australia 4
CA - Canada 3
CL - Cile 3
GR - Grecia 3
IN - India 3
PL - Polonia 3
LV - Lettonia 2
AE - Emirati Arabi Uniti 1
AL - Albania 1
AT - Austria 1
AZ - Azerbaigian 1
BR - Brasile 1
CI - Costa d'Avorio 1
HK - Hong Kong 1
HU - Ungheria 1
JP - Giappone 1
KZ - Kazakistan 1
MA - Marocco 1
RO - Romania 1
UZ - Uzbekistan 1
Totale 3.077
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Città #
Southend 274
Fairfield 234
Dublin 213
Ashburn 136
Chandler 133
Woodbridge 133
Ann Arbor 106
Houston 90
Wilmington 90
Seattle 88
Cambridge 81
Santa Clara 80
Jacksonville 74
Siena 42
Beijing 37
Singapore 35
New York 34
Princeton 34
Helsinki 32
Nanjing 30
Shanghai 21
Milan 16
Málaga 16
Brussels 15
Boardman 13
Padova 12
Izmir 11
Dearborn 10
San Diego 10
Menlo Park 9
Munich 9
Rome 9
San Mateo 9
Brno 8
Dong Ket 7
Nanchang 7
Naples 7
Tianjin 7
Ferrara 6
Moscow 6
Shenyang 6
Jiaxing 5
Los Angeles 5
Phoenix 5
Florence 4
Hebei 4
Jinan 4
Kunming 4
Norwalk 4
Taizhou 4
Venice 4
Waanrode 4
Bologna 3
Bolzano 3
Cassino 3
Cossato 3
Farra di Soligo 3
Frankfurt am Main 3
Guangzhou 3
Lancaster 3
Lentate sul Seveso 3
London 3
Modica 3
Washington 3
Aachen 2
Bracciano 2
Canberra 2
Cesena 2
Changsha 2
Conversano 2
Dallas 2
Düsseldorf 2
Falkenstein 2
Fuzhou 2
Grottaglie 2
Jena 2
Lanzhou 2
Leawood 2
Meldola 2
Mestre 2
Montevarchi 2
Palermo 2
Quartu Sant'Elena 2
Riga 2
Rimini 2
Russi 2
Toronto 2
Trento 2
Turin 2
Vicenza 2
Warsaw 2
Zhengzhou 2
Abidjan 1
Acton 1
Alghero 1
Almaty 1
Atlanta 1
Baku 1
Bangalore 1
Bari 1
Totale 2.337
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Nome #
MEIS2 gene is responsible for intellectual disability, cardiac defects and a distinct facial phenotype 344
Low-level TP53 mutational load antecedes clonal expansion in chronic lymphocytic leukaemia 207
Array comparative genomic hybridization in retinoma and retinoblastoma tissues. 189
Analysis of the Phenotypes in the Rett Networked Database 188
Personalized therapy in a GRIN1 mutated girl with intellectual disability and epilepsy 182
A 2.6 Mb deletion of 6q24.3-25.1 in a patient with growth failure, cardiac septal defect, thin upperlip and asymmetric dysmorphic ears 178
Private inherited microdeletion/microduplications: implications in clinical practice 172
Delineation of the phenotype associated with 7q36.1q36.2 deletion: long QT syndrome, renal hypoplasia and mental retardation 171
A 9.3 Mb microdeletion of 3q27.3q29 associated with psychomotor and growth delay, tricuspid valve dysplasia and bifid thumb 165
Is HSD17B1 a new sex reversal gene in human? 163
A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features 161
Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation 154
Expanding the phenotype of 22q11 deletion syndrome: the MURCS association 152
Association between primary open-angle glaucoma (POAG) and WDR36 sequence variance in Italian families affected by POAG. 147
Clinical and molecular characterization of Italian patients affected by Cohen syndrome 147
Investigation of modifier genes within copy number variations in Rett syndrome 143
null 126
13q Deletion Syndrome Involving RB1: Characterization of a New Minimal Critical Region for Psychomotor Delay 58
Corrigendum: Exome Sequencing in BRCA1-2 Candidate Familias: The Contribution of Other Cancer Susceptibility Genes (Front. Oncol., (2021), 11, 10.3389/fonc.2021.649435) 57
FOXG1 variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language development 26
Syndromic mental retardation with thrombocytopenia due to 21q22.11q22.12 deletion: Report of three patients 8
Totale 3.138
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Categoria #
all - tutte 9.896
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 9.896
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020313 0 0 0 0 0 0 66 78 61 48 21 39
2020/2021452 19 36 24 55 21 36 44 67 36 52 33 29
2021/2022309 24 57 16 30 5 5 21 14 12 28 25 72
2022/2023401 23 58 42 57 43 65 13 26 30 18 15 11
2023/2024430 12 12 60 36 9 108 120 8 12 24 4 25
2024/2025345 13 50 114 47 94 27 0 0 0 0 0 0
Totale 3.138