IRIS UniCatt

Ricciardi, Stefania
 Distribuzione geografica
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Continente #
NA - Nord America 601
EU - Europa 463
AS - Asia 346
SA - Sud America 68
AF - Africa 12
OC - Oceania 2
Totale 1.492
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Nazione #
US - Stati Uniti d'America 583
DE - Germania 170
SG - Singapore 152
CN - Cina 97
SE - Svezia 58
BR - Brasile 54
IT - Italia 48
UA - Ucraina 45
FR - Francia 39
VN - Vietnam 28
GB - Regno Unito 24
IE - Irlanda 17
IN - India 16
FI - Finlandia 15
ID - Indonesia 11
PL - Polonia 10
CA - Canada 9
JP - Giappone 9
RU - Federazione Russa 9
BD - Bangladesh 7
AR - Argentina 6
ZA - Sudafrica 6
ES - Italia 5
MX - Messico 5
NL - Olanda 5
BE - Belgio 4
AE - Emirati Arabi Uniti 2
AT - Austria 2
CH - Svizzera 2
CL - Cile 2
CO - Colombia 2
CY - Cipro 2
IR - Iran 2
JO - Giordania 2
KE - Kenya 2
KZ - Kazakistan 2
LT - Lituania 2
LV - Lettonia 2
SA - Arabia Saudita 2
TR - Turchia 2
UZ - Uzbekistan 2
AM - Armenia 1
BB - Barbados 1
DK - Danimarca 1
EC - Ecuador 1
EG - Egitto 1
ET - Etiopia 1
GR - Grecia 1
HN - Honduras 1
HU - Ungheria 1
IL - Israele 1
IQ - Iraq 1
IS - Islanda 1
KR - Corea 1
MA - Marocco 1
MD - Moldavia 1
MN - Mongolia 1
MQ - Martinica 1
NP - Nepal 1
NZ - Nuova Zelanda 1
OM - Oman 1
PG - Papua Nuova Guinea 1
PH - Filippine 1
PK - Pakistan 1
PY - Paraguay 1
RO - Romania 1
SV - El Salvador 1
TH - Thailandia 1
TN - Tunisia 1
UY - Uruguay 1
VE - Venezuela 1
Totale 1.492
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Città #
Chandler 83
Singapore 74
Ashburn 63
San Jose 41
New York 36
Jacksonville 28
Los Angeles 22
Beijing 18
Dublin 16
Nanjing 16
San Mateo 15
Ann Arbor 11
Dearborn 11
Frankfurt am Main 11
Marseille 11
Nürnberg 11
Fairfield 10
Ho Chi Minh City 10
Houston 10
Wilmington 10
Jakarta 9
Nanchang 9
Tokyo 9
Cattolica 8
Lawrence 8
Lauterbourg 7
Milan 7
Moscow 7
Woodbridge 7
Boston 6
Mountain View 6
Norwalk 6
Rome 6
Atlanta 5
Helsinki 5
Munich 5
São Paulo 5
The Dalles 5
Warsaw 5
Boardman 4
Brasília 4
Bremen 4
Changsha 4
Denver 4
Fremont 4
Lancaster 4
Morlupo 4
Phoenix 4
Redwood City 4
San Diego 4
Santa Clara 4
Stockholm 4
Toronto 4
University Park 4
Waanrode 4
Brescia 3
Brooklyn 3
Buffalo 3
Chicago 3
Hanoi 3
Johannesburg 3
London 3
Nuremberg 3
Shenyang 3
Tianjin 3
Amman 2
Bari 2
Bexley 2
Boulder 2
Charlotte 2
Chennai 2
Dallas 2
Düsseldorf 2
Falkenstein 2
Hefei 2
Kansas City 2
Kish 2
Mexico City 2
Mumbai 2
Nairobi 2
Nicosia 2
North Bergen 2
Porto Alegre 2
Portsmouth 2
Pune 2
Redmond 2
Riga 2
Romainville 2
Roubaix 2
San Giuliano Milanese 2
Seattle 2
Serra 2
Simi Valley 2
Tashkent 2
Turku 2
Vienna 2
Vĩnh Long 2
Wroclaw 2
Zhengzhou 2
Aberdare 1
Totale 795
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Nome #
Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder 242
Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome 198
Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder 182
Proposal of a clinical score for the molecular test for Pitt-Hopkins syndrome 168
Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients 166
The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria 154
Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4 150
CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases 128
"CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases" American Journal of Medical Genetics Part A. 164:2557-2566, 2014 126
Totale 1.514
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Categoria #
all - tutte 5.491
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 5.491
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/20211 0 0 0 0 0 0 0 0 0 0 0 1
2021/202286 7 8 0 7 3 7 1 17 6 5 10 15
2022/2023207 29 32 12 39 8 25 14 15 16 2 6 9
2023/2024105 5 25 2 16 3 26 1 0 0 1 8 18
2024/2025195 4 5 9 11 21 7 1 16 38 16 35 32
2025/2026466 77 12 13 66 99 24 73 15 22 44 10 11
Totale 1.514