IRIS
VETRO, ANNALISA
 Distribuzione geografica
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Continente #
NA - Nord America 1.960
AS - Asia 1.383
EU - Europa 1.242
SA - Sud America 158
AF - Africa 16
OC - Oceania 6
Totale 4.765
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Nazione #
US - Stati Uniti d'America 1.918
CN - Cina 786
IE - Irlanda 337
SG - Singapore 282
FI - Finlandia 156
HK - Hong Kong 156
DE - Germania 147
RU - Federazione Russa 140
UA - Ucraina 128
BR - Brasile 124
IT - Italia 115
VN - Vietnam 66
GB - Regno Unito 58
SE - Svezia 57
CZ - Repubblica Ceca 24
JP - Giappone 21
CA - Canada 19
FR - Francia 19
IN - India 19
AR - Argentina 17
MX - Messico 17
BE - Belgio 15
BD - Bangladesh 11
ES - Italia 8
IQ - Iraq 8
NL - Olanda 8
TR - Turchia 8
EC - Ecuador 7
PL - Polonia 6
SA - Arabia Saudita 6
AE - Emirati Arabi Uniti 5
ZA - Sudafrica 5
AU - Australia 4
AL - Albania 3
AT - Austria 3
ID - Indonesia 3
LT - Lituania 3
RO - Romania 3
TN - Tunisia 3
AZ - Azerbaigian 2
CL - Cile 2
CO - Colombia 2
CR - Costa Rica 2
EE - Estonia 2
EG - Egitto 2
JO - Giordania 2
LV - Lettonia 2
MA - Marocco 2
NZ - Nuova Zelanda 2
PY - Paraguay 2
SK - Slovacchia (Repubblica Slovacca) 2
VE - Venezuela 2
BA - Bosnia-Erzegovina 1
BO - Bolivia 1
CH - Svizzera 1
ET - Etiopia 1
GT - Guatemala 1
HR - Croazia 1
IM - Isola di Man 1
IR - Iran 1
JM - Giamaica 1
KG - Kirghizistan 1
KW - Kuwait 1
LA - Repubblica Popolare Democratica del Laos 1
LU - Lussemburgo 1
MN - Mongolia 1
MU - Mauritius 1
NG - Nigeria 1
NI - Nicaragua 1
PS - Palestinian Territory 1
PT - Portogallo 1
RE - Reunion 1
TJ - Tagikistan 1
TT - Trinidad e Tobago 1
UY - Uruguay 1
UZ - Uzbekistan 1
Totale 4.765
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Città #
Dublin 337
Chandler 269
Jacksonville 200
Dallas 197
Ashburn 178
Nanjing 176
Hong Kong 155
Beijing 153
Singapore 149
Boardman 91
Ann Arbor 73
Nanchang 71
New York 69
Shenyang 64
Helsinki 55
Lawrence 52
Medford 52
Princeton 52
Wilmington 49
Changsha 46
Hebei 45
Jiaxing 45
Pavia 44
Los Angeles 36
Munich 32
Shanghai 30
Ho Chi Minh City 24
Tianjin 24
Brno 22
Moscow 21
Hangzhou 20
Tokyo 20
Woodbridge 20
Redondo Beach 18
Hanoi 17
Turku 17
Buffalo 16
Brussels 15
The Dalles 15
Milan 13
Fairfield 11
Santa Clara 11
Norwalk 10
São Paulo 10
Houston 9
Orem 9
Stockholm 9
Jinan 8
Phoenix 8
Brooklyn 7
Denver 7
Des Moines 7
London 7
Toronto 7
Boston 6
Chennai 6
Dearborn 6
Falkenstein 6
Kunming 6
Mexico City 6
Mumbai 6
Nuremberg 6
San Francisco 6
Warsaw 6
Baghdad 5
Chicago 5
Florence 5
Quito 5
Riyadh 5
Ankara 4
Atlanta 4
Belo Horizonte 4
Biên Hòa 4
Manchester 4
Montreal 4
Ningbo 4
Poplar 4
Pune 4
Querétaro 4
Rio de Janeiro 4
Zhengzhou 4
Brasília 3
Capiago Intimiano 3
Charlotte 3
Columbus 3
Frankfurt am Main 3
Johannesburg 3
Lanzhou 3
Ribeirão das Neves 3
Rome 3
Salvador 3
Santo André 3
Taizhou 3
Tappahannock 3
Verona 3
Amsterdam 2
Auburn Hills 2
Baku 2
Berlin 2
Brasov 2
Totale 3.287
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Nome #
A prenatal case of duplication with terminal deletion of 5p not identified by conventional cytogenetics. 148
A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea. 135
A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea. 134
A Data Fusion Approach to Enhance Association Study in Epilepsy 130
SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type 127
A novel mutation in COL4A1 gene: A possible cause of early postnatal cerebrovascular events 124
Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 cases. 124
Cortical dysplasia of the left temporal lobe might explain severe expressive-language delay in patients with duplication of the Williams-Beuren locus 119
Constitutive activation of PKA catalytic subunit in adrenal Cushing's syndrome 119
Lower motor neuron disease with respiratory failure caused by a novel MAPT mutation. 117
Next generation sequencing for systematic assessment of genetics of small-vessel disease and lacunar stroke 116
Sox9 Duplications Are a Relevant Cause of Sry-Negative XX Sex Reversal Dogs 115
High resolution genome-wide array-comparative genomic hybridization in splenic marginal zone B-cell lymphoma 109
Current controversies in prenatal diagnosis 3: is conventional chromosome analysis necessary in the post-array CGH era? 108
Unexpected results in the constitution of small supernumerary marker chromosomes. 106
Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association 104
A novel APC promoter 1B deletion shows a founder effect in Italian patients with classical familial adenomatous polyposis phenotype 101
De novo 15.5-Mb Interstitial Deletion in 5p in a Male Ascertained by Oligospermia. 100
Deletion 2q31.2-q31.3 in a 4 year old girl with microcephaly and severe mental retardation 98
A patient with partial trisomy 21 and 7q deletion expresses mild Down syndrome phenotype 98
APC rearrangements in familial adenomatous polyposis: heterogeneity of deletion lengths and breakpoint sequences underlies similar phenotypes 96
Loss-of-function FANCL mutations associate with severe fanconi anemia overlapping the VACTERL association 96
Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1. 93
A newborn with ambiguous genitalia and a complex X;Y rearrangement. 92
Combined 22q11.1-q11.21 deletion with 15q11.2-q13.3 duplication identified by array-CGH in a 6 years old boy. 91
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform 90
Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH 89
A fetus with ring chromosome 21 characterized by aCGH shows no clinical findings after birth. 88
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 88
PRKACB and Carney complex 86
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform 86
MCM5: A new actor in the link between DNA replication and Meier-Gorlin syndrome 82
An interstitial 4q31.21q31.22 microdeletion associated with developmental delay: case report and literature review. 82
XX males SRY negative: a confirmed cause of infertility 80
Array technology in prenatal diagnosis 79
Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure. 78
The phenotype of recurrent 10q22q23 deletions and duplications. 77
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform 77
Prenatal diagnosis of two de novo 4q35-qter deletions characterized by array-CGH. 76
PIEZO1 Hypomorphic Variants in Congenital Lymphatic Dysplasia Cause Shape and Hydration Alterations of Red Blood Cells 76
First trimester diagnosis of 13q-syndrome associated with increased fetal nuchal translucency thickness. Clinical findings and systematic review. 73
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 72
Identification of de novo mutations and rare variants in hypoplastic left heart syndrome. 71
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. 71
Deletions of the PRKAR1A locus at 17q24.2-q24.3 in Carney complex: genotype-phenotype correlations and implications for genetic testing. 71
Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3 71
Severe growth hormone deficiency and pituitary malformation in a patient with chromosome 2p25 duplication and 2q37 deletion 70
The introduction of arrays in prenatal diagnosis: a special challenge. 70
Proximal 10q duplication in a child with severe central hypotonia characterized by array-comparative genomic hybridization: a case report and review of the literature. 63
Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome. 61
Prenatal diagnosis of Wolf-Hirschhorn syndrome confirmed by comparative genomic hybridization array: report of two cases and review of the literature. 54
Multiple joint dislocations: an additional skeletal finding in Lowry-Wood syndrome? 49
Totale 4.830
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Categoria #
all - tutte 20.244
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 20.244
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021187 0 0 0 0 0 30 3 51 19 42 36 6
2021/2022249 3 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
2025/20261.196 163 184 235 268 267 79 0 0 0 0 0 0
Totale 4.830