IRIS UniCatt

Ricciardi, Stefania
 Distribuzione geografica
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Continente #
NA - Nord America 588
EU - Europa 459
AS - Asia 342
SA - Sud America 68
AF - Africa 12
OC - Oceania 2
Totale 1.471
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Nazione #
US - Stati Uniti d'America 570
DE - Germania 170
SG - Singapore 151
CN - Cina 95
SE - Svezia 58
BR - Brasile 54
IT - Italia 45
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
AR - Argentina 6
BD - Bangladesh 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
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 1.471
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Città #
Chandler 83
Singapore 73
Ashburn 60
San Jose 38
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
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
Changsha 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
Chicago 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
Addis Ababa 1
Totale 785
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Nome #
Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder 239
Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome 195
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 163
Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients 163
The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria 152
Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4 147
CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases 126
"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 1.493
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Categoria #
all - tutte 5.283
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 5.283
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202113 0 0 0 0 0 0 0 0 0 0 12 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
2025/2026445 77 12 13 66 99 24 73 15 22 44 0 0
Totale 1.493