IRIS
VETRO, ANNALISA
 Distribuzione geografica
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Continente #
NA - Nord America 2.337
AS - Asia 1.661
EU - Europa 1.332
SA - Sud America 213
Continente sconosciuto - Info sul continente non disponibili 66
AF - Africa 61
OC - Oceania 6
Totale 5.676
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Nazione #
US - Stati Uniti d'America 2.281
CN - Cina 824
SG - Singapore 354
IE - Irlanda 338
HK - Hong Kong 173
FI - Finlandia 156
DE - Germania 154
VN - Vietnam 149
BR - Brasile 143
RU - Federazione Russa 142
UA - Ucraina 129
IT - Italia 125
FR - Francia 71
GB - Regno Unito 64
SE - Svezia 58
ZA - Sudafrica 40
AR - Argentina 30
IN - India 30
JP - Giappone 26
CZ - Repubblica Ceca 24
CA - Canada 23
BD - Bangladesh 22
MX - Messico 20
BE - Belgio 16
TR - Turchia 13
IQ - Iraq 11
EC - Ecuador 10
NL - Olanda 10
ES - Italia 9
PK - Pakistan 8
SA - Arabia Saudita 7
CO - Colombia 6
PL - Polonia 6
RO - Romania 6
AE - Emirati Arabi Uniti 5
CL - Cile 5
ID - Indonesia 5
MY - Malesia 5
PE - Perù 5
VE - Venezuela 5
AU - Australia 4
AZ - Azerbaigian 4
JO - Giordania 4
MA - Marocco 4
PH - Filippine 4
PY - Paraguay 4
TN - Tunisia 4
AL - Albania 3
AT - Austria 3
CR - Costa Rica 3
KE - Kenya 3
LT - Lituania 3
OM - Oman 3
UY - Uruguay 3
UZ - Uzbekistan 3
BA - Bosnia-Erzegovina 2
BO - Bolivia 2
EE - Estonia 2
EG - Egitto 2
ET - Etiopia 2
GT - Guatemala 2
KG - Kirghizistan 2
KW - Kuwait 2
LV - Lettonia 2
MU - Mauritius 2
NI - Nicaragua 2
NZ - Nuova Zelanda 2
SK - Slovacchia (Repubblica Slovacca) 2
BY - Bielorussia 1
CH - Svizzera 1
CI - Costa d'Avorio 1
CM - Camerun 1
DM - Dominica 1
DO - Repubblica Dominicana 1
HN - Honduras 1
HR - Croazia 1
IL - Israele 1
IM - Isola di Man 1
IR - Iran 1
JM - Giamaica 1
LA - Repubblica Popolare Democratica del Laos 1
LU - Lussemburgo 1
MN - Mongolia 1
NG - Nigeria 1
NP - Nepal 1
PA - Panama 1
PS - Palestinian Territory 1
PT - Portogallo 1
RE - Reunion 1
SI - Slovenia 1
TJ - Tagikistan 1
TT - Trinidad e Tobago 1
XK - ???statistics.table.value.countryCode.XK??? 1
Totale 5.611
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Città #
Dublin 338
Chandler 269
Ashburn 225
Singapore 202
Jacksonville 200
Dallas 198
San Jose 194
Nanjing 176
Hong Kong 169
Beijing 157
Boardman 94
Ann Arbor 74
Nanchang 71
New York 70
Shenyang 64
Helsinki 55
Ho Chi Minh City 53
Lawrence 52
Medford 52
Princeton 52
Wilmington 49
Lauterbourg 48
Changsha 46
Hebei 45
Jiaxing 45
Pavia 44
Council Bluffs 41
Los Angeles 41
Hanoi 40
Munich 32
Johannesburg 31
Shanghai 31
Tianjin 24
Tokyo 24
Brno 22
Moscow 21
Hangzhou 20
Santa Clara 20
Woodbridge 20
Redondo Beach 18
Buffalo 17
Turku 17
Brussels 16
The Dalles 15
Milan 13
Orem 12
Phoenix 12
São Paulo 12
Fairfield 11
Houston 10
Norwalk 10
Chennai 9
London 9
Stockholm 9
Toronto 9
Brooklyn 8
Frankfurt am Main 8
Jinan 8
Mexico City 8
San Francisco 8
Atlanta 7
Baghdad 7
Chicago 7
Denver 7
Des Moines 7
Boston 6
Da Nang 6
Dearborn 6
Falkenstein 6
Kunming 6
Mumbai 6
Nuremberg 6
Quito 6
Riyadh 6
Warsaw 6
Ankara 5
Florence 5
Haiphong 5
Manchester 5
Montreal 5
Amsterdam 4
Baku 4
Belo Horizonte 4
Biên Hòa 4
Buenos Aires 4
Fortaleza 4
Ningbo 4
Poplar 4
Pune 4
Querétaro 4
Rio de Janeiro 4
Zhengzhou 4
Amman 3
Berlin 3
Brasília 3
Bắc Giang 3
Capiago Intimiano 3
Casablanca 3
Charlotte 3
Columbus 3
Totale 3.840
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Nome #
A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea. 169
A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea. 168
A prenatal case of duplication with terminal deletion of 5p not identified by conventional cytogenetics. 164
A Data Fusion Approach to Enhance Association Study in Epilepsy 153
SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type 151
A novel mutation in COL4A1 gene: A possible cause of early postnatal cerebrovascular events 150
Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 cases. 145
Cortical dysplasia of the left temporal lobe might explain severe expressive-language delay in patients with duplication of the Williams-Beuren locus 139
Lower motor neuron disease with respiratory failure caused by a novel MAPT mutation. 137
Next generation sequencing for systematic assessment of genetics of small-vessel disease and lacunar stroke 132
Constitutive activation of PKA catalytic subunit in adrenal Cushing's syndrome 129
Sox9 Duplications Are a Relevant Cause of Sry-Negative XX Sex Reversal Dogs 128
High resolution genome-wide array-comparative genomic hybridization in splenic marginal zone B-cell lymphoma 125
Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association 124
A novel APC promoter 1B deletion shows a founder effect in Italian patients with classical familial adenomatous polyposis phenotype 124
Current controversies in prenatal diagnosis 3: is conventional chromosome analysis necessary in the post-array CGH era? 121
Unexpected results in the constitution of small supernumerary marker chromosomes. 119
Loss-of-function FANCL mutations associate with severe fanconi anemia overlapping the VACTERL association 117
Deletion 2q31.2-q31.3 in a 4 year old girl with microcephaly and severe mental retardation 115
A patient with partial trisomy 21 and 7q deletion expresses mild Down syndrome phenotype 114
APC rearrangements in familial adenomatous polyposis: heterogeneity of deletion lengths and breakpoint sequences underlies similar phenotypes 112
De novo 15.5-Mb Interstitial Deletion in 5p in a Male Ascertained by Oligospermia. 111
Combined 22q11.1-q11.21 deletion with 15q11.2-q13.3 duplication identified by array-CGH in a 6 years old boy. 110
A newborn with ambiguous genitalia and a complex X;Y rearrangement. 107
An interstitial 4q31.21q31.22 microdeletion associated with developmental delay: case report and literature review. 105
Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1. 104
Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH 104
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform 104
A fetus with ring chromosome 21 characterized by aCGH shows no clinical findings after birth. 103
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform 102
Complex rearrangement involving three chromosomes, four breakpoints and a 2.7-Mb deletion in the 18q segment observed in a girl with mild learning difficulties 101
MCM5: A new actor in the link between DNA replication and Meier-Gorlin syndrome 98
XX males SRY negative: a confirmed cause of infertility 97
Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3 96
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform 95
Array technology in prenatal diagnosis 92
PRKACB and Carney complex 92
Prenatal diagnosis of two de novo 4q35-qter deletions characterized by array-CGH. 91
The phenotype of recurrent 10q22q23 deletions and duplications. 90
PIEZO1 Hypomorphic Variants in Congenital Lymphatic Dysplasia Cause Shape and Hydration Alterations of Red Blood Cells 90
Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure. 88
Deletions of the PRKAR1A locus at 17q24.2-q24.3 in Carney complex: genotype-phenotype correlations and implications for genetic testing. 86
Identification of de novo mutations and rare variants in hypoplastic left heart syndrome. 85
First trimester diagnosis of 13q-syndrome associated with increased fetal nuchal translucency thickness. Clinical findings and systematic review. 83
Partial trisomy 2p and partial monosomy 2q arising from a paternal intrachromosomal 2q-into-2p between-arm insertion and paracentric inversion: molecular cytogenetic characterization of a four-break rearrangement. 82
The introduction of arrays in prenatal diagnosis: a special challenge. 81
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 80
Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome. 78
Proximal 10q duplication in a child with severe central hypotonia characterized by array-comparative genomic hybridization: a case report and review of the literature. 77
Severe growth hormone deficiency and pituitary malformation in a patient with chromosome 2p25 duplication and 2q37 deletion 77
Prenatal diagnosis of Wolf-Hirschhorn syndrome confirmed by comparative genomic hybridization array: report of two cases and review of the literature. 67
Multiple joint dislocations: an additional skeletal finding in Lowry-Wood syndrome? 64
Totale 5.676
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Categoria #
all - tutte 23.744
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 23.744
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022246 0 4 2 3 8 9 14 20 15 6 26 139
2022/2023907 124 78 7 46 76 77 10 46 408 5 16 14
2023/2024363 44 61 6 17 21 86 0 61 5 6 9 47
2024/2025735 17 64 24 16 13 41 23 47 194 22 95 179
2025/20261.960 163 184 235 268 267 80 336 70 157 124 34 42
2026/202782 25 57 0 0 0 0 0 0 0 0 0 0
Totale 5.676