CRIS Current Research Information System

PALOMBO, FLAVIA
 Distribuzione geografica
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Continente #
NA - Nord America 1.286
EU - Europa 934
AS - Asia 880
AF - Africa 75
SA - Sud America 44
OC - Oceania 2
Totale 3.221
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Nazione #
US - Stati Uniti d'America 1.272
IT - Italia 344
SG - Singapore 297
CN - Cina 233
VN - Vietnam 149
GB - Regno Unito 114
DE - Germania 101
SE - Svezia 97
HK - Hong Kong 66
IN - India 55
IE - Irlanda 45
NL - Olanda 41
RU - Federazione Russa 40
CI - Costa d'Avorio 31
FI - Finlandia 31
FR - Francia 31
BR - Brasile 30
KR - Corea 27
TG - Togo 20
JO - Giordania 17
UA - Ucraina 13
AT - Austria 12
ID - Indonesia 11
SC - Seychelles 11
BE - Belgio 10
PL - Polonia 9
ZA - Sudafrica 9
BG - Bulgaria 8
CA - Canada 8
AR - Argentina 7
CH - Svizzera 7
EE - Estonia 7
CZ - Repubblica Ceca 6
ES - Italia 5
HR - Croazia 4
JP - Giappone 4
MX - Messico 4
TR - Turchia 4
CO - Colombia 3
EC - Ecuador 3
AZ - Azerbaigian 2
BD - Bangladesh 2
GR - Grecia 2
IR - Iran 2
LT - Lituania 2
LV - Lettonia 2
MY - Malesia 2
NG - Nigeria 2
AE - Emirati Arabi Uniti 1
AL - Albania 1
AU - Australia 1
CL - Cile 1
DM - Dominica 1
DZ - Algeria 1
IL - Israele 1
IQ - Iraq 1
KG - Kirghizistan 1
KZ - Kazakistan 1
LK - Sri Lanka 1
MA - Marocco 1
MD - Moldavia 1
NZ - Nuova Zelanda 1
OM - Oman 1
PA - Panama 1
PK - Pakistan 1
SK - Slovacchia (Repubblica Slovacca) 1
UZ - Uzbekistan 1
Totale 3.221
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Città #
Singapore 185
Ashburn 163
Chandler 148
Bologna 116
Fairfield 103
Southend 92
Hong Kong 66
Dallas 58
Hefei 57
Ann Arbor 44
Dublin 44
Redmond 43
Houston 41
Santa Clara 37
Seattle 37
Woodbridge 33
Cambridge 32
Princeton 32
Abidjan 31
Beijing 31
Boardman 29
Seoul 27
Helsinki 26
New York 25
Wilmington 25
Milan 23
Lomé 20
Florence 19
Los Angeles 19
Ho Chi Minh City 18
Amman 17
Boydton 16
Hanoi 15
Berlin 13
Turin 12
Padova 11
Jakarta 10
Nuremberg 10
Westminster 10
Brussels 9
Warsaw 9
Buffalo 8
Sofia 8
Bengaluru 7
Frankfurt am Main 7
Hebei 7
San Diego 7
Stockholm 7
Vienna 7
Chicago 6
London 6
Munich 6
Nanjing 6
Redondo Beach 6
Bern 5
Brno 5
Changsha 5
Des Moines 5
Fornovo di Taro 5
Rome 5
Shanghai 5
Tianjin 5
Brescia 4
Denver 4
Falkenstein 4
Haiphong 4
Lappeenranta 4
Medford 4
Parma 4
Pune 4
Ravenna 4
Tokyo 4
Ancona 3
Ankara 3
Cesena 3
Da Nang 3
Desenzano del Garda 3
Ferrara 3
Kuban 3
Mexico City 3
Modena 3
Moscow 3
New Delhi 3
Ottawa 3
Pavia 3
Phoenix 3
Qingdao 3
Shenzhen 3
São Paulo 3
Taizhou 3
Thái Nguyên 3
Atlanta 2
Baku 2
Bari 2
Bremen 2
Brooklyn 2
Castel Maggiore 2
Cesenatico 2
Charlotte 2
Chennai 2
Totale 1.999
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Nome #
An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorder. 312
Mitochondrial DNA influences the susceptibility to Autism Spectrum Disorders and the severity of the clinical phenotype 251
Association of rs3027178 polymorphism in the circadian clock gene PER1 with susceptibility to Alzheimer's disease and longevity in an Italian population 195
Somatic APC mosaicism and oligogenic inheritance in genetically unsolved colorectal adenomatous polyposis patients 188
Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East 178
Clinical and pathogenetic features of ETV6 related thrombocytopenia with predisposition to acute lymphoblastic leukemia 175
Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup 168
Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts 165
Mutations of RUNX1 in families with inherited thrombocytopenia 163
Prenatal diagnosis of Simpson–Golabi–Behmel syndrome 159
A novel founder MYO15A frameshift duplication is the major cause of genetic hearing loss in Oman 158
SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder 155
SLFN14-related thrombocytopenia: Identification within a large series of patients with inherited thrombocytopenia 152
AUDACITY: A comprehensive approach for the detection and classification of Runs of Homozygosity in medical and population genomics 151
A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy. 150
Dissecting the multifaceted contribution of the mitochondrial genome to autism spectrum disorder 133
Loss of function mutations in CCDC32 cause a congenital syndrome characterized by craniofacial, cardiac and neurodevelopmental anomalies 103
Missense PDSS1 mutations in CoenzymeQ10 synthesis cause optic atrophy and sensorineural deafness 99
Effectiveness and Impact of Transcript Analysis in Clinical Genetics Daily Practice 97
Combined Optic Atrophy and Rod-Cone Dystrophy Expands the RTN4IP1 (Optic Atrophy 10) Phenotype 75
Two more families supporting the existence of monogenic spinocerebellar ataxia 48 60
De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy 39
Clinical study of ferredoxin-reductase-related mitochondriopathy: Genotype-phenotype correlation and proposal of ancestry-based carrier screening in the Mexican population 8
null 2
Totale 3.336
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Categoria #
all - tutte 9.547
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 9.547
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021301 0 0 0 0 0 1 8 30 96 22 13 131
2021/2022362 15 16 29 17 36 21 9 38 15 28 92 46
2022/2023616 42 78 20 57 74 102 38 37 89 14 47 18
2023/2024237 9 42 23 17 13 60 16 14 12 10 11 10
2024/2025651 39 92 52 50 57 35 70 29 22 67 55 83
2025/2026751 147 129 139 123 144 69 0 0 0 0 0 0
Totale 3.336