SIRCHIA, Fabio
 Distribuzione geografica
Continente #
NA - Nord America 1.357
EU - Europa 874
AS - Asia 422
OC - Oceania 39
SA - Sud America 36
Totale 2.728
Nazione #
US - Stati Uniti d'America 1.313
IT - Italia 281
CN - Cina 216
IE - Irlanda 87
SE - Svezia 86
DE - Germania 81
GB - Regno Unito 80
FR - Francia 74
SG - Singapore 61
ES - Italia 37
CA - Canada 32
AU - Australia 28
BR - Brasile 23
VN - Vietnam 21
JP - Giappone 19
ID - Indonesia 18
HK - Hong Kong 17
NL - Olanda 17
IN - India 16
PL - Polonia 16
UA - Ucraina 16
BE - Belgio 13
FI - Finlandia 12
MX - Messico 12
NZ - Nuova Zelanda 11
TR - Turchia 11
CH - Svizzera 10
DK - Danimarca 10
AT - Austria 9
AR - Argentina 8
IL - Israele 8
TW - Taiwan 8
RU - Federazione Russa 7
CZ - Repubblica Ceca 6
GR - Grecia 6
KR - Corea 6
PT - Portogallo 6
SA - Arabia Saudita 6
CY - Cipro 5
PK - Pakistan 5
HU - Ungheria 4
RO - Romania 4
CL - Cile 3
NO - Norvegia 3
PH - Filippine 3
CO - Colombia 2
LV - Lettonia 2
RS - Serbia 2
BG - Bulgaria 1
IR - Iran 1
IS - Islanda 1
MD - Moldavia 1
MY - Malesia 1
SI - Slovenia 1
SK - Slovacchia (Repubblica Slovacca) 1
Totale 2.728
Città #
Chandler 172
Dublin 84
Torino 72
Fairfield 71
Ann Arbor 63
Redwood City 63
Ashburn 57
Beijing 55
Houston 54
Singapore 52
Woodbridge 43
Wilmington 38
Cambridge 28
Nyköping 26
Santa Clara 25
Medford 24
Seattle 24
Turin 23
Columbus 21
Princeton 18
Milan 17
New York 17
Dong Ket 16
Pisa 16
Shanghai 16
Dearborn 14
Jakarta 14
London 14
Rome 14
Villeurbanne 14
Guangzhou 13
Paris 12
Fremont 11
Munich 11
Nanjing 11
Chicago 10
Jacksonville 10
Warsaw 10
Buffalo 9
Pavia 9
Berlin 8
Hong Kong 8
Wuhan 8
Barcelona 7
Boston 7
Dallas 7
Hangzhou 7
Helsinki 7
Los Angeles 7
Upper Marlboro 7
Boardman 6
Chengdu 6
Christchurch 6
Hefei 6
Jinan 6
Leeds 6
Riverton 6
San Diego 6
San Fernando 6
Silver Spring 6
Arosio 5
Auckland 5
New Haven 5
Norwalk 5
Rochester 5
Saint Louis 5
Strasbourg 5
São Paulo 5
Tokyo 5
Toronto 5
Tübingen 5
Vienna 5
Baltimore 4
Belfast 4
Birmingham 4
Blackpool 4
Brescia 4
Brussels 4
Castuera 4
Chatsworth 4
Chongqing 4
Edinburgh 4
Florianópolis 4
Frankfurt am Main 4
Harbin 4
Hyderabad 4
Lyndhurst 4
Madrid 4
Manchester 4
Melbourne 4
Montreal 4
Multan 4
Netherby 4
Oxford 4
Philadelphia 4
Rio De Janeiro 4
Rottofreno 4
San Francisco 4
Shenzhen 4
Taipei 4
Totale 1.576
Nome #
Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy 497
A case of Feingold type 2 syndrome associated with keratoconus refines keratoconus type 7 locus on chromosome 13q 446
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 253
Design of a multiplex ligation-dependent probe amplification assay for SLC20A2: identification of two novel deletions in primary familial brain calcification 240
A novel case of Greenberg dysplasia and genotype-phenotype correlation analysis for LBR pathogenic variants: An instructive example of one gene-multiple phenotypes 203
A syndromic extreme insulin resistance caused by biallelic POC1A mutations in exon 10 192
Novel mutation of PPOX gene in a patient with abdominal pain and syndrome of inappropriate antidiuresis. 175
ISL1 is a major susceptibility gene for classic bladder exstrophy and a regulator of urinary tract development 157
Characteristics of a nationwide cohort of patients presenting with isolated hypogonadotropic hypogonadism (IHH) 123
Novel LRPPRC compound heterozygous mutation in a child with early-onset Leigh syndrome French-Canadian type: Case report of an Italian patient 102
Wilms tumour occurring in a patient with osteopathia striata with cranial sclerosis: A still unsolved biological question 69
Dental anomalies as a possible clue of 1p36 deletion syndrome due to germline mosaicism: A case report 55
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy 51
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 50
Tregs and Th17 lymphocytes in human DYRK1A haploinsufficiency 45
A Girl with Delayed Puberty and Bumpy Lips 43
Recontacting or not recontacting? A survey of current practices in clinical genetics centres in Europe 39
Clinical and molecular characterization of patients affected by Beckwith-Wiedemann spectrum conceived through assisted reproduction techniques 37
When Long-Lasting Food Selectivity Leads to an Unusual Genetic Diagnosis: A Case Report 36
Totale 2.813
Categoria #
all - tutte 7.542
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 7.542


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020275 0 0 0 0 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
2023/2024381 42 47 31 24 26 35 15 23 12 32 49 45
2024/2025218 30 34 36 60 58 0 0 0 0 0 0 0
Totale 2.813