IRIS
ERRICHIELLO, EDOARDO
 Distribuzione geografica
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Continente #
NA - Nord America 1.718
AS - Asia 1.435
EU - Europa 1.182
SA - Sud America 232
AF - Africa 47
Continente sconosciuto - Info sul continente non disponibili 3
OC - Oceania 2
Totale 4.619
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Nazione #
US - Stati Uniti d'America 1.677
CN - Cina 537
SG - Singapore 383
IE - Irlanda 324
DE - Germania 201
HK - Hong Kong 199
BR - Brasile 170
RU - Federazione Russa 144
VN - Vietnam 137
FI - Finlandia 136
IT - Italia 128
FR - Francia 64
IN - India 47
GB - Regno Unito 46
SE - Svezia 35
AR - Argentina 28
CA - Canada 24
ZA - Sudafrica 24
BD - Bangladesh 22
JP - Giappone 18
IQ - Iraq 15
PL - Polonia 13
TR - Turchia 13
BE - Belgio 12
ES - Italia 12
MX - Messico 12
AT - Austria 11
EC - Ecuador 11
MA - Marocco 8
NL - Olanda 8
UA - Ucraina 8
PH - Filippine 7
SA - Arabia Saudita 7
AZ - Azerbaigian 6
CH - Svizzera 5
CO - Colombia 5
CZ - Repubblica Ceca 5
LT - Lituania 5
PE - Perù 5
PK - Pakistan 5
TN - Tunisia 5
UZ - Uzbekistan 5
AE - Emirati Arabi Uniti 4
CL - Cile 4
EG - Egitto 4
MY - Malesia 4
PT - Portogallo 4
RO - Romania 4
ID - Indonesia 3
LB - Libano 3
LV - Lettonia 3
PY - Paraguay 3
VE - Venezuela 3
CR - Costa Rica 2
DK - Danimarca 2
GR - Grecia 2
IL - Israele 2
KG - Kirghizistan 2
KR - Corea 2
KZ - Kazakistan 2
LA - Repubblica Popolare Democratica del Laos 2
NP - Nepal 2
RS - Serbia 2
SN - Senegal 2
TH - Thailandia 2
UY - Uruguay 2
XK - ???statistics.table.value.countryCode.XK??? 2
AL - Albania 1
BO - Bolivia 1
CI - Costa d'Avorio 1
DO - Repubblica Dominicana 1
DZ - Algeria 1
EE - Estonia 1
EU - Europa 1
GE - Georgia 1
HR - Croazia 1
HU - Ungheria 1
IR - Iran 1
JO - Giordania 1
KE - Kenya 1
KH - Cambogia 1
MD - Moldavia 1
MT - Malta 1
NG - Nigeria 1
NI - Nicaragua 1
NO - Norvegia 1
NZ - Nuova Zelanda 1
PS - Palestinian Territory 1
SK - Slovacchia (Repubblica Slovacca) 1
SV - El Salvador 1
TM - Turkmenistan 1
TO - Tonga 1
Totale 4.619
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Città #
Dublin 324
Singapore 212
Hong Kong 193
Ashburn 184
San Jose 183
Chandler 173
Beijing 145
Dallas 138
Munich 127
Helsinki 95
Boardman 93
New York 69
Nanjing 58
Ho Chi Minh City 55
Los Angeles 54
Lauterbourg 53
Lawrence 38
Medford 38
Princeton 38
Wilmington 35
Ann Arbor 34
Turku 32
Shanghai 31
Shenyang 27
Hanoi 26
Moscow 26
Nanchang 26
Redondo Beach 25
Jacksonville 24
São Paulo 22
Johannesburg 20
Buffalo 19
Pavia 19
Jiaxing 18
Seattle 16
The Dalles 16
Tokyo 16
Changsha 13
Hebei 13
Brussels 12
Cagliari 12
Milan 12
Nuremberg 12
Columbus 11
Montreal 11
Santa Clara 11
Tianjin 11
Chennai 10
Chicago 10
Houston 10
Orem 10
Stockholm 10
Warsaw 10
Falls Church 9
Guangzhou 9
Hangzhou 9
London 9
Rio de Janeiro 9
Falkenstein 8
Haiphong 8
Mexico City 8
Brooklyn 7
Denver 7
Frankfurt am Main 7
Norwalk 7
Telgate 7
Ankara 6
Baghdad 6
Dhaka 6
Phoenix 6
Poplar 6
Rome 6
San Francisco 6
Woodbridge 6
Baku 5
Biên Hòa 5
Casablanca 5
Goiânia 5
Mumbai 5
Piscataway 5
Pune 5
Tashkent 5
Amsterdam 4
Atlanta 4
Boston 4
Charlotte 4
Council Bluffs 4
Florence 4
Guayaquil 4
Jinan 4
Jyväskylä 4
Lisbon 4
Ninh Bình 4
Ottawa 4
Quito 4
Suzhou 4
Toronto 4
Vienna 4
Washington 4
Zurich 4
Totale 3.144
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Nome #
Dissection of partial 21q monosomy in different phenotypes: clinical and molecular characterization of five cases and review of the literature 270
A Data Fusion Approach to Enhance Association Study in Epilepsy 150
SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type 148
Patologia ereditaria da gain of function 140
Disseminated Mycobacterium Avium Infection in a Child with Complete Interferon-γ Receptor 1 Deficiency due to Compound Heterozygosis of IFNGR1 for a Subpolymorphic Copy Number Variation and a Novel Splice-Site Variant 119
KCTD17-related myoclonus-dystonia syndrome: clinical and electrophysiological findings of a patient with atypical late onset 117
An additional piece in the TBX6 gene dosage model: A novel nonsense variant in a fetus with severe spondylocostal dysostosis 117
Confini e medicina di precisione in coppie consanguinee di migranti: la ricezione della consulenza genetica successiva all'identificazione di patologie fetali 115
A novel variant in NEUROD2 in a patient with Rett-like phenotype points to Glu130 codon as a mutational hotspot 111
Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD) 111
Acute megakaryoblastic leukemia with a novel GATA1 mutation in a second trimester stillborn fetus with trisomy 21 103
Ex vivo-expanded bone marrow CD34(+) for acute myocardial infarction treatment: in vitro and in vivo studies 102
Discovering a familial Xp11.4 microduplication: Does the mother matter? 100
Histologic heterogeneity and syndromic associations of non-ampullary duodenal polyps and superficial mucosal lesions 99
A genome-wide association study of myasthenia gravis 98
Mitochondrial DNA variations in tumours: Drivers or passengers? 92
Oxidative DNA damage drives carcinogenesis in MUTYH-associated-polyposis by specific mutations of mitochondrial and MAPK genes. 92
Novel molecular, structural and clinical findings in an Italian cohort of congenital cataract 91
De novo unbalanced translocations have a complex history/aetiology 89
PIEZO1 Hypomorphic Variants in Congenital Lymphatic Dysplasia Cause Shape and Hydration Alterations of Red Blood Cells 88
Characterization of a novel loss-of-function variant in TDP2 in two adult patients with spinocerebellar ataxia autosomal recessive 23 (SCAR23) 88
Chromothripsis and ring chromosome 22: a paradigm of genomic complexity in the Phelan-McDermid syndrome (22q13 deletion syndrome) 87
Small supernumerary marker chromosomes: A legacy of trisomy rescue? 84
Mitochondrial DNA variants in colorectal carcinogenesis: Drivers or passengers? 83
FANCA, TP53, and del(5q)/RPS14 alterations in a patient with T-cell non-Hodgkin lymphoma and concomitant Fanconi anemia and Li-Fraumeni syndrome 82
Improving the phenotype description of Basel-Vanagaite-Smirin-Yosef syndrome, MED25-related: polymicrogyria as a distinctive neuroradiological finding 81
Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage 79
Whole exome sequencing in the differential diagnosis of Diamond-Blackfan anemia: Clinical and molecular study of three patients with novel RPL5 and mosaic RPS19 mutations 79
A donor splice site mutation in CISD2 generates multiple truncated, non-functional isoforms in Wolfram syndrome type 2 patients 79
Myogenic potential of whole bone marrow mesenchymal stem cells in vitro and in vivo for usage in urinary incontinence 76
SOX2: Not always eye malformations. Severe genital but no major ocular anomalies in a female patient with the recurrent c.70del20 variant 71
Low penetrance COL5A1 variants in a young patient with intracranial aneurysm and very mild signs of Ehlers-Danlos syndrome 71
Chromothriptic events in healthy people: pay attention to "innocent" insertional translocations 70
Systemic AA amyloidosis as a unique manifestation of a combined mutation of TNFRSF1A and MEFV genes 70
Movement disorders in a family carrying ATP7A variant 69
Commentary on “Craniofacial Syndromes and class III phenotype: common genotype fingerprints? A scoping review and meta-analysis” 69
Chromothripsis: evolution of de novo small supernumerary marker chromosomes from trisomies 67
TBK1 is associated with ALS and ALS-FTD in Sardinian patients. 66
Insertional translocation involving an additional nonchromothriptic chromosome in constitutional chromothripsis: Rule or exception? 66
Further evidence supporting the role of GTDC1 in glycine metabolism and neurodevelopmental disorders 60
Non-response to vaccines: still an enigma? B-cell transcription factor POU2F2/OCT2 is a potential candidate 57
Prematurity, ventricular septal defect and dysmorphisms are independent predictors of pathogenic copy number variants: a retrospective study on array-CGH results and phenotypical features of 293 children with neurodevelopmental disorders and/or multiple congenital anomalies 56
Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genes 54
Mitochondrial variants in MT-CO2 and D-loop instability are involved in MUTYH-associated polyposis 54
RB1CC1 duplication and aberrant overexpression in a patient with schizophrenia: further phenotype delineation and proposal of a pathogenetic mechanism 54
Prominent and elongated coccyx, a new manifestation of KBG syndrome associated with novel mutation in ANKRD11 49
Phenotypic Expansion in Nasu-Hakola Disease: Immunological Findings in Three Patients and Proposal of a Unifying Pathogenic Hypothesis 48
SCN2A and arrhythmia: A potential correlation? A case report and literature review 47
Ex vivo expanded bone marrow CD34+ for acute myocardial infarction treatment: in vitro and in vivo studies 47
Paroxysmal Dystonic Posturing Mimicking Nocturnal Leg Cramps as a Presenting Sign in an Infant with DCC Mutation, Callosal Agenesis and Mirror Movements 46
NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain 45
Improving the phenotype description of Basel-Vanagaite-Smirin-Yosef syndrome, MED25-related: the relevance of neuroimaging findings 44
Case Report: Decrypting an interchromosomal insertion associated with Marfan's syndrome: how optical genome mapping emphasizes the morbid burden of copy-neutral variants 43
Transcutaneous electrical stimulation therapy and genetic analysis in Dercum’s disease A pilot study 39
Identification of bi-allelic LFNG variants in three patients and further clinical and molecular refinement of spondylocostal dysostosis 3 38
Potential and immuno-modulant proprieties of mesenchymal stem cells from amniotic fluid 37
MESENCHYMAL STEM CELLS EXPANSION BY PLATING WHOLE BONE MARROW AT LOW CELLULAR DENSITY: A MORE ADVANTAGEOUS METHOD FOR CLINICAL USE 35
NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain 20
Further Delineation of the AUTS2 HX Repeat Domain‐Related Phenotype 18
NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain 14
CTLA4 Alteration and Neurologic Manifestations: A New Family with Large Phenotypic Variability and Literature Review 13
Mitochondrial DNA analysis in a cohort of stillbirths with brainstem and cardiac conduction system abnormalities 12
Large familial chromosomal duplications without apparent disease phenotypes: how to deal with them in prenatal diagnosis? 11
null 8
Totale 4.738
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Categoria #
all - tutte 20.563
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 20.563
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202115 0 0 0 0 0 0 0 0 0 7 6 2
2021/2022196 5 3 2 5 7 13 4 10 16 4 23 104
2022/2023723 76 53 12 28 32 53 46 31 350 8 24 10
2023/2024403 35 66 13 20 20 106 14 30 5 13 33 48
2024/20251.006 23 73 32 13 13 83 103 83 238 39 115 191
2025/20261.973 169 158 244 267 246 83 395 98 191 122 0 0
Totale 4.738