CINECA IRIS Institutional Research Information System

SIRCHIA, Fabio
 Distribuzione geografica
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Continente #
NA - Nord America 1.264
EU - Europa 780
AS - Asia 306
SA - Sud America 36
OC - Oceania 31
Totale 2.417
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Nazione #
US - Stati Uniti d'America 1.225
IT - Italia 253
CN - Cina 188
SE - Svezia 86
IE - Irlanda 85
FR - Francia 68
GB - Regno Unito 64
DE - Germania 58
ES - Italia 35
CA - Canada 29
AU - Australia 24
BR - Brasile 23
VN - Vietnam 21
JP - Giappone 17
IN - India 16
UA - Ucraina 16
NL - Olanda 15
PL - Polonia 14
HK - Hong Kong 13
BE - Belgio 11
DK - Danimarca 10
FI - Finlandia 10
MX - Messico 10
TR - Turchia 10
AR - Argentina 8
CH - Svizzera 7
NZ - Nuova Zelanda 7
AT - Austria 6
GR - Grecia 6
KR - Corea 6
PT - Portogallo 6
RU - Federazione Russa 6
SA - Arabia Saudita 6
CY - Cipro 5
CZ - Repubblica Ceca 5
TW - Taiwan 5
HU - Ungheria 4
ID - Indonesia 4
IL - Israele 4
PK - Pakistan 4
RO - Romania 4
CL - Cile 3
NO - Norvegia 3
SG - Singapore 3
CO - Colombia 2
LV - Lettonia 2
PH - Filippine 2
RS - Serbia 2
BG - Bulgaria 1
IR - Iran 1
IS - Islanda 1
MY - Malesia 1
SI - Slovenia 1
SK - Slovacchia (Repubblica Slovacca) 1
Totale 2.417
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Città #
Chandler 172
Dublin 82
Torino 72
Fairfield 71
Ann Arbor 63
Redwood City 63
Ashburn 56
Beijing 55
Houston 54
Woodbridge 43
Wilmington 38
Cambridge 28
Nyköping 26
Medford 24
Seattle 24
Princeton 18
New York 17
Dong Ket 16
Pisa 16
Turin 15
Dearborn 14
Shanghai 14
Villeurbanne 14
Rome 13
Paris 12
Fremont 11
Jacksonville 10
Nanjing 10
Warsaw 10
Buffalo 9
Chicago 9
London 9
Pavia 9
Berlin 8
Guangzhou 8
Dallas 7
Hangzhou 7
Hong Kong 7
Milan 7
Upper Marlboro 7
Barcelona 6
Chengdu 6
Christchurch 6
Hefei 6
Jinan 6
Leeds 6
Los Angeles 6
Riverton 6
San Diego 6
San Fernando 6
Silver Spring 6
Arosio 5
Boston 5
Columbus 5
Helsinki 5
New Haven 5
Norwalk 5
Rochester 5
Saint Louis 5
Strasbourg 5
São Paulo 5
Tokyo 5
Toronto 5
Vienna 5
Wuhan 5
Baltimore 4
Birmingham 4
Blackpool 4
Brescia 4
Brussels 4
Castuera 4
Chatsworth 4
Florianópolis 4
Hyderabad 4
Lyndhurst 4
Manchester 4
Montreal 4
Multan 4
Munich 4
Netherby 4
Oxford 4
Philadelphia 4
Rio De Janeiro 4
Rottofreno 4
San Francisco 4
Santa Clara 4
Taipei 4
Tübingen 4
Valencia 4
Ziebice 4
Ankara 3
Bisceglie 3
Bologna 3
Budapest 3
Buenos Aires 3
Central District 3
Changsha 3
Charlestown 3
Chicoutimi 3
Chongqing 3
Totale 1.414
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Nome #
A case of Feingold type 2 syndrome associated with keratoconus refines keratoconus type 7 locus on chromosome 13q 423
Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy 410
Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes 238
Design of a multiplex ligation-dependent probe amplification assay for SLC20A2: identification of two novel deletions in primary familial brain calcification 219
A novel case of Greenberg dysplasia and genotype-phenotype correlation analysis for LBR pathogenic variants: An instructive example of one gene-multiple phenotypes 188
A syndromic extreme insulin resistance caused by biallelic POC1A mutations in exon 10 166
Novel mutation of PPOX gene in a patient with abdominal pain and syndrome of inappropriate antidiuresis. 154
ISL1 is a major susceptibility gene for classic bladder exstrophy and a regulator of urinary tract development 146
Characteristics of a nationwide cohort of patients presenting with isolated hypogonadotropic hypogonadism (IHH) 110
Novel LRPPRC compound heterozygous mutation in a child with early-onset Leigh syndrome French-Canadian type: Case report of an Italian patient 94
Wilms tumour occurring in a patient with osteopathia striata with cranial sclerosis: A still unsolved biological question 57
Genomic studies in a large cohort of hearing impaired italian patients revealed several new alleles, a rare case of uniparental disomy (Upd) and the importance to search for copy number variations 46
Dental anomalies as a possible clue of 1p36 deletion syndrome due to germline mosaicism: A case report 44
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy 42
Tregs and Th17 lymphocytes in human DYRK1A haploinsufficiency 37
A Girl with Delayed Puberty and Bumpy Lips 37
Recontacting or not recontacting? A survey of current practices in clinical genetics centres in Europe 34
When Long-Lasting Food Selectivity Leads to an Unusual Genetic Diagnosis: A Case Report 32
Clinical and molecular characterization of patients affected by Beckwith-Wiedemann spectrum conceived through assisted reproduction techniques 24
Totale 2.501
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Categoria #
all - tutte 6.275
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 6.275
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/201956 0 0 0 0 0 0 0 0 0 0 40 16
2019/2020392 19 22 25 51 28 30 38 42 30 58 18 31
2020/2021403 14 37 48 58 42 25 33 19 27 25 21 54
2021/2022415 23 20 24 65 26 29 17 24 30 20 86 51
2022/2023590 34 44 35 45 33 111 37 45 91 30 42 43
2023/2024287 42 47 31 24 26 35 15 23 12 32 0 0
Totale 2.501