PROVENZANO, ALDESIA
 Distribuzione geografica
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Continente #
EU - Europa 4.924
NA - Nord America 4.221
AS - Asia 1.701
SA - Sud America 186
AF - Africa 44
OC - Oceania 25
Continente sconosciuto - Info sul continente non disponibili 1
Totale 11.102
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Nazione #
US - Stati Uniti d'America 4.154
IT - Italia 2.059
RU - Federazione Russa 965
PL - Polonia 709
SG - Singapore 491
CN - Cina 425
HK - Hong Kong 276
IE - Irlanda 233
NL - Olanda 195
SE - Svezia 176
VN - Vietnam 157
BR - Brasile 145
KR - Corea 120
FR - Francia 115
DE - Germania 111
FI - Finlandia 104
GB - Regno Unito 66
UA - Ucraina 56
IN - India 42
CH - Svizzera 41
BD - Bangladesh 39
CA - Canada 39
JP - Giappone 30
ES - Italia 27
AU - Australia 25
JO - Giordania 22
AR - Argentina 19
ID - Indonesia 18
IQ - Iraq 17
BE - Belgio 16
MX - Messico 16
BG - Bulgaria 11
CI - Costa d'Avorio 10
PK - Pakistan 10
TR - Turchia 8
PT - Portogallo 7
RO - Romania 7
ZA - Sudafrica 7
CL - Cile 6
CZ - Repubblica Ceca 6
GR - Grecia 6
NP - Nepal 6
PH - Filippine 6
EC - Ecuador 5
EG - Egitto 5
KE - Kenya 5
NG - Nigeria 5
AT - Austria 4
UZ - Uzbekistan 4
VE - Venezuela 4
BY - Bielorussia 3
CO - Colombia 3
DZ - Algeria 3
IR - Iran 3
LT - Lituania 3
MA - Marocco 3
NI - Nicaragua 3
OM - Oman 3
SA - Arabia Saudita 3
TN - Tunisia 3
UY - Uruguay 3
AM - Armenia 2
AZ - Azerbaigian 2
CR - Costa Rica 2
HN - Honduras 2
IL - Israele 2
KZ - Kazakistan 2
LK - Sri Lanka 2
QA - Qatar 2
TH - Thailandia 2
TT - Trinidad e Tobago 2
AE - Emirati Arabi Uniti 1
AL - Albania 1
BJ - Benin 1
CG - Congo 1
DO - Repubblica Dominicana 1
EU - Europa 1
GT - Guatemala 1
HU - Ungheria 1
JM - Giamaica 1
KH - Cambogia 1
LB - Libano 1
MK - Macedonia 1
MN - Mongolia 1
MY - Malesia 1
PE - Perù 1
RS - Serbia 1
SC - Seychelles 1
TL - Timor Orientale 1
TW - Taiwan 1
Totale 11.102
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Città #
Santa Clara 990
Warsaw 700
Ashburn 524
Singapore 350
Dublin 230
Hong Kong 224
Fairfield 217
Chandler 216
San Jose 202
Beijing 135
Woodbridge 133
Milan 126
Seoul 120
Florence 113
Houston 100
Seattle 99
Rome 93
Ann Arbor 92
Cambridge 85
Buffalo 74
Wilmington 67
Princeton 66
Altamura 57
Lawrence 57
Los Angeles 53
Munich 53
Dallas 50
The Dalles 50
Ho Chi Minh City 44
Boston 43
Lauterbourg 42
Moscow 41
Helsinki 39
Council Bluffs 36
Shanghai 36
Bern 34
Bologna 32
Bari 31
New York 30
Hanoi 29
Tokyo 29
Cagliari 28
Turin 27
Melbourne 25
Boardman 23
San Diego 23
São Paulo 23
Paris 22
Clifton 21
Mumbai 21
Naples 21
Dearborn 20
Genoa 19
Turku 19
Medford 18
Dong Ket 17
Frankfurt am Main 16
Hefei 16
Jacksonville 16
Jakarta 16
Kent 15
Norwalk 15
Trento 14
Bremen 13
Brussels 13
Napoli 13
Padova 13
Redondo Beach 13
Toronto 13
Manchester 12
Chicago 11
Palermo 11
Sofia 11
Abidjan 10
Barcelona 10
Catania 10
London 10
Tianjin 10
Andover 8
Baghdad 8
Brooklyn 8
Foggia 8
Poplar 8
Torino 8
Verona 8
Atlanta 7
Brescia 7
Denver 7
Giugliano in Campania 7
Mexico City 7
Montreal 7
Orem 7
Pavia 7
Phoenix 7
Pisa 7
Prato 7
Trieste 7
Yubileyny 7
Amsterdam 6
Elk Grove Village 6
Totale 6.509
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Nome #
Cromotripsi un nuovo meccanismo alla base di riarrangiamenti genomici complessi 2.160
Comprehensive investigation in patients affected by sperm macrocephaly and globozoospermia 375
NF2 mutation screening by denaturing high-performance liquid chromatography and high-resolution melting analysis 354
SLMSuite: a suite of algorithms for segmenting genomic profiles 286
Bicuspid Aortic Valve: Role of Multiple Gene Variants in Influencing the Clinical Phenotype 251
Reverse phenotyping after whole-Exome sequencing in steroid-resistant nephrotic syndrome 232
Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin remodeling genes 231
PROFILO CLINICO E MOLECOLARE DI PAZIENTI AFFETTI DA ACIDOSI TUBULARE RENALE DISTALE 229
Genome-wide copy number analysis in pediatric glioblastoma multiforme. 223
Michelangelo’s David: triumph of perfection or perfect combination of variation and disproportions? A human perspective. 212
NGS e malattie renali: aspetti clinici e molecolari delle acidosi tubulari renali 210
De novo unbalanced translocations have a complex history/aetiology 208
NEXT GENERATION SEQUENCING: IMPLICAZIONI NELLA PRATICA CLINICA E NELLA DIAGNOSI DELLA SINDROME NEFROSICA STEROIDO-RESISTENTE 207
The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis 203
Small supernumerary marker chromosomes: A legacy of trisomy rescue? 203
Novel Sources of Biodiversity and Biomolecules from Bacteria Isolated from a High Middle Ages Soil Sample in Palermo (Sicily, Italy) 189
Human urine-derived renal progenitors for personalized modeling of genetic kidney disorders 188
Heterogeneous genetic alterations in sporadic nephrotic syndrome associate with resistance to immunosuppression 186
Therapeutic implications of novel mutations of the RFX6 gene associated with early-onset diabetes 183
Molecular characterization of paediatric glioneuronal tumours with neuropil-like islands: a genome-wide copy number analysis. 180
Calreticulin Mutation Is Associated with Milder Disease in Patients with Post Essential Thrombocythemia Myelofibrosis (PET-MF) Compared with JAK2V617F Mutation: A Study from the AGIMM Group 177
Lessons from genetics: is it time to revise the therapeutic approach to children with steroid-resistant nephrotic syndrome? 177
Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutation 176
A DNA resequencing array for genes involved in MODY/Type 2 Diabetes: a new era in clinical and molecular diagnosis 175
Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomalies 172
NF2 mutation screening by denaturing high-performance liquid chromatography and high-resolution melting analysis. 167
LA NUOVA ERA NELLA DIAGNOSI CLINICO-GENETICA DEL DIABETE MONOFATTORIALE E DIABETE TIPO 2: SCREENING MEDIANTE NEXT GENERATION SEQUENCING 161
Noninvasive Prenatal Diagnosis in a Family at Risk for Fraser Syndrome 157
Prenatal diagnosis of X-linked adrenoleukodystrophy associated with isolated pericardial effusion 157
Calreticulin Mutation Is Associated with Milder Disease in Patients with Post Essential Thrombocythemia Myelofibrosis (PET-MF) Compared with JAK2V617F Mutation: A Study from the AGIMM Group 157
Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas. 156
Novel Germline PHD2 Variant in a Metastatic Pheochromocytoma and Chronic Myeloid Leukemia, but in the Absence of Polycythemia 154
Transient hyperoxaluria in a patient with inherited distal renal tubular acidosis 153
High throughput sequencing in sporadic forms of steroid-resistant nephrotic syndrome in children frequently identifies heterogeneous genetic alterations that predict resistance to immunosuppressive treatments 153
Disseminated Mycobacterium xenopi in an Adult with IL-12Rβ1 Deficiency 151
Next generation sequencing and functional analysis of patient urine renal progenitor-derived podocytes to unravel the diagnosis underlying refractory lupus nephritis 146
Heterogeneous Genetic Alterations Predict Resistance To Immunosuppressive Treatments In Sporadic Steroid-resistant Nephrotic Syndrome. 144
Severe Obesity Associated with Severe Hyperinsulinism and T2D in a Family with Mutation in SH2B1 Gene 138
The promise and challenge of high throughput sequencing to discover genes involved in Medullary Sponge Kidney disease 133
Identification and characterization of a new candidate gene for steroid resistant nephrotic syndrome 131
CARATTERIZZAZIONE CLINICA, MOLECOLARE E FUNZIONALE DI SOGGETTI CON ACIDOSI TUBULARE RENALE DISTALE 129
Ruxolitinib is an effective treatment for CALR-positive patients with myelofibrosis 127
Variants Disrupting CD40L Transmembrane Domain and Atypical X-Linked Hyper-IgM Syndrome: A Case Report With Leishmaniasis and Review of the Literature 127
High Throughput Sequencing Approach Identify MAFA as the fourteenth MODY gene 120
High throughput sequencing in sporadic forms of steroid-resistant nephrotic syndrome: heterogeneous genetic alterations can predict resistance to treatments 119
URINE-DERIVED HUMAN RENAL PROGENITOR CULTURES FOR MODELING OF GENETIC KIDNEY DISORDERS 113
TOWARD THE GENETIC BASIS OF OESOPHAGEAL ATRESIA: CLINICAL AND MOLECULAR STUDY BY NEXT GENERATION SEQUENCING 107
STUDIO CLINICO, GENETICO E MOLECOLARE DI FAMIGLIE ITALIANE AFFETTE DA MODY 106
Neurocutaneous Melanosis Is Not Always a Benign Disease 99
Urine-derived human renal progenitor cultures for modeling of genetic kidney disorders in subject studied by Next Generation Sequencing 98
NEXT GENERATION SEQUENCING: IMPLICATIONS IN CLINICAL PRACTICE AND DIAGNOSIS OF STEROID-RESISTANT NEPHROTIC SYNDROME 97
Next generation sequencing in renal disorders: molecular and clinical aspects of renal tubular acidosis 84
Targeted resequencing for analysis of gene mutations in pediatric Glioblastoma Multiforme 76
Targeted sequencing experiments for rare disease alleles: implications in clinical practice and diagnosis of steroid-resistant nephrotic syndrome 74
MODY/Type 2 Diabetes: molecular analysis of a large cohort of patients by Next Generation Sequencing 73
Totale 11.194
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Categoria #
all - tutte 27.473
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 27.473
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202137 0 0 0 0 0 0 0 0 0 0 0 37
2021/2022514 19 46 47 27 16 37 33 23 25 31 86 124
2022/20231.289 117 192 58 89 103 195 159 87 129 24 63 73
2023/2024844 44 58 102 51 63 73 126 117 26 65 63 56
2024/20253.149 124 271 147 473 901 418 93 187 196 100 124 115
2025/20263.029 372 370 177 243 403 166 486 184 223 225 125 55
Totale 11.194