PROVENZANO, ALDESIA
 Distribuzione geografica
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Continente #
EU - Europa 4.133
NA - Nord America 3.163
AS - Asia 735
SA - Sud America 101
OC - Oceania 25
AF - Africa 21
Continente sconosciuto - Info sul continente non disponibili 1
Totale 8.179
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Nazione #
US - Stati Uniti d'America 3.135
IT - Italia 1.702
RU - Federazione Russa 779
PL - Polonia 693
IE - Irlanda 233
HK - Hong Kong 232
SG - Singapore 228
SE - Svezia 173
CN - Cina 153
NL - Olanda 144
BR - Brasile 93
DE - Germania 90
FI - Finlandia 73
FR - Francia 53
UA - Ucraina 53
CH - Svizzera 40
GB - Regno Unito 32
AU - Australia 25
IN - India 24
JO - Giordania 21
VN - Vietnam 21
CA - Canada 18
ES - Italia 16
ID - Indonesia 16
BE - Belgio 14
BG - Bulgaria 11
CI - Costa d'Avorio 10
BD - Bangladesh 6
CZ - Repubblica Ceca 6
GR - Grecia 6
IQ - Iraq 6
MX - Messico 6
RO - Romania 5
AT - Austria 4
KR - Corea 4
PT - Portogallo 4
TR - Turchia 4
EC - Ecuador 3
IR - Iran 3
KE - Kenya 3
UZ - Uzbekistan 3
AM - Armenia 2
BY - Bielorussia 2
CO - Colombia 2
KZ - Kazakistan 2
LK - Sri Lanka 2
MA - Marocco 2
NG - Nigeria 2
NI - Nicaragua 2
PK - Pakistan 2
AE - Emirati Arabi Uniti 1
AR - Argentina 1
AZ - Azerbaigian 1
DO - Repubblica Dominicana 1
DZ - Algeria 1
EG - Egitto 1
EU - Europa 1
HN - Honduras 1
JP - Giappone 1
NP - Nepal 1
PH - Filippine 1
SA - Arabia Saudita 1
SC - Seychelles 1
TN - Tunisia 1
UY - Uruguay 1
VE - Venezuela 1
Totale 8.179
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Città #
Santa Clara 977
Warsaw 691
Dublin 230
Fairfield 217
Chandler 216
Hong Kong 183
Ashburn 140
Woodbridge 133
Singapore 124
Florence 107
Seattle 99
Houston 97
Milan 95
Ann Arbor 91
Cambridge 85
Rome 80
Wilmington 67
Princeton 66
Altamura 57
Lawrence 57
Beijing 55
Munich 53
Buffalo 52
Boston 41
Moscow 35
Bern 34
Shanghai 33
Bari 29
Cagliari 27
Bologna 25
Melbourne 25
Boardman 23
San Diego 23
Paris 22
Helsinki 21
Dearborn 20
Genoa 19
Los Angeles 19
Medford 18
Naples 18
Turin 18
Dong Ket 17
Jacksonville 16
Jakarta 15
Mumbai 15
Norwalk 15
Kent 14
Trento 14
Bremen 13
Brussels 13
Napoli 13
Padova 13
São Paulo 12
Sofia 11
Abidjan 10
Barcelona 10
Toronto 9
Turku 9
Andover 8
Foggia 8
Torino 8
Verona 8
Brescia 7
Catania 7
Giugliano in Campania 7
New York 7
Pavia 7
Prato 7
Trieste 7
Yubileyny 7
Frankfurt am Main 6
Palermo 6
Redwood City 6
Rubano 6
Dallas 5
Hillsboro 5
Messina 5
Monza 5
Pescara 5
Pisa 5
Taranto 5
Bergamo 4
Campi Bisenzio 4
Grumo Appula 4
Guangzhou 4
Hefei 4
Isola della Scala 4
Ladispoli 4
Lerici 4
Lucca 4
Mexico City 4
Perugia 4
Salvador 4
Sassari 4
Seoul 4
Sestu 4
Treviso 4
Vienna 4
Amman 3
Amsterdam 3
Totale 4.862
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Nome #
Cromotripsi un nuovo meccanismo alla base di riarrangiamenti genomici complessi 1.667
NF2 mutation screening by denaturing high-performance liquid chromatography and high-resolution melting analysis 298
Comprehensive investigation in patients affected by sperm macrocephaly and globozoospermia 297
SLMSuite: a suite of algorithms for segmenting genomic profiles 253
PROFILO CLINICO E MOLECOLARE DI PAZIENTI AFFETTI DA ACIDOSI TUBULARE RENALE DISTALE 199
Bicuspid Aortic Valve: Role of Multiple Gene Variants in Influencing the Clinical Phenotype 184
Genome-wide copy number analysis in pediatric glioblastoma multiforme. 169
Michelangelo’s David: triumph of perfection or perfect combination of variation and disproportions? A human perspective. 168
The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis 161
NEXT GENERATION SEQUENCING: IMPLICAZIONI NELLA PRATICA CLINICA E NELLA DIAGNOSI DELLA SINDROME NEFROSICA STEROIDO-RESISTENTE 159
Reverse phenotyping after whole-Exome sequencing in steroid-resistant nephrotic syndrome 159
NGS e malattie renali: aspetti clinici e molecolari delle acidosi tubulari renali 158
De novo unbalanced translocations have a complex history/aetiology 158
Small supernumerary marker chromosomes: A legacy of trisomy rescue? 153
Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin remodeling genes 148
Heterogeneous genetic alterations in sporadic nephrotic syndrome associate with resistance to immunosuppression 141
Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutation 140
Human urine-derived renal progenitors for personalized modeling of genetic kidney disorders 139
LA NUOVA ERA NELLA DIAGNOSI CLINICO-GENETICA DEL DIABETE MONOFATTORIALE E DIABETE TIPO 2: SCREENING MEDIANTE NEXT GENERATION SEQUENCING 138
Prenatal diagnosis of X-linked adrenoleukodystrophy associated with isolated pericardial effusion 137
Molecular characterization of paediatric glioneuronal tumours with neuropil-like islands: a genome-wide copy number analysis. 131
Lessons from genetics: is it time to revise the therapeutic approach to children with steroid-resistant nephrotic syndrome? 128
Therapeutic implications of novel mutations of the RFX6 gene associated with early-onset diabetes 127
NF2 mutation screening by denaturing high-performance liquid chromatography and high-resolution melting analysis. 126
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 121
Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomalies 118
Noninvasive Prenatal Diagnosis in a Family at Risk for Fraser Syndrome 114
Transient hyperoxaluria in a patient with inherited distal renal tubular acidosis 113
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 113
A DNA resequencing array for genes involved in MODY/Type 2 Diabetes: a new era in clinical and molecular diagnosis 110
Next generation sequencing and functional analysis of patient urine renal progenitor-derived podocytes to unravel the diagnosis underlying refractory lupus nephritis 109
Disseminated Mycobacterium xenopi in an Adult with IL-12Rβ1 Deficiency 107
Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas. 103
Heterogeneous Genetic Alterations Predict Resistance To Immunosuppressive Treatments In Sporadic Steroid-resistant Nephrotic Syndrome. 102
CARATTERIZZAZIONE CLINICA, MOLECOLARE E FUNZIONALE DI SOGGETTI CON ACIDOSI TUBULARE RENALE DISTALE 99
Ruxolitinib is an effective treatment for CALR-positive patients with myelofibrosis 99
High throughput sequencing in sporadic forms of steroid-resistant nephrotic syndrome in children frequently identifies heterogeneous genetic alterations that predict resistance to immunosuppressive treatments 98
Identification and characterization of a new candidate gene for steroid resistant nephrotic syndrome 97
Novel Sources of Biodiversity and Biomolecules from Bacteria Isolated from a High Middle Ages Soil Sample in Palermo (Sicily, Italy) 95
Severe Obesity Associated with Severe Hyperinsulinism and T2D in a Family with Mutation in SH2B1 Gene 95
Novel Germline PHD2 Variant in a Metastatic Pheochromocytoma and Chronic Myeloid Leukemia, but in the Absence of Polycythemia 94
The promise and challenge of high throughput sequencing to discover genes involved in Medullary Sponge Kidney disease 86
Variants Disrupting CD40L Transmembrane Domain and Atypical X-Linked Hyper-IgM Syndrome: A Case Report With Leishmaniasis and Review of the Literature 84
URINE-DERIVED HUMAN RENAL PROGENITOR CULTURES FOR MODELING OF GENETIC KIDNEY DISORDERS 80
High Throughput Sequencing Approach Identify MAFA as the fourteenth MODY gene 79
High throughput sequencing in sporadic forms of steroid-resistant nephrotic syndrome: heterogeneous genetic alterations can predict resistance to treatments 76
TOWARD THE GENETIC BASIS OF OESOPHAGEAL ATRESIA: CLINICAL AND MOLECULAR STUDY BY NEXT GENERATION SEQUENCING 76
STUDIO CLINICO, GENETICO E MOLECOLARE DI FAMIGLIE ITALIANE AFFETTE DA MODY 74
Urine-derived human renal progenitor cultures for modeling of genetic kidney disorders in subject studied by Next Generation Sequencing 68
Neurocutaneous Melanosis Is Not Always a Benign Disease 66
NEXT GENERATION SEQUENCING: IMPLICATIONS IN CLINICAL PRACTICE AND DIAGNOSIS OF STEROID-RESISTANT NEPHROTIC SYNDROME 55
MODY/Type 2 Diabetes: molecular analysis of a large cohort of patients by Next Generation Sequencing 51
Targeted sequencing experiments for rare disease alleles: implications in clinical practice and diagnosis of steroid-resistant nephrotic syndrome 51
Next generation sequencing in renal disorders: molecular and clinical aspects of renal tubular acidosis 51
Targeted resequencing for analysis of gene mutations in pediatric Glioblastoma Multiforme 49
Totale 8.271
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Categoria #
all - tutte 20.892
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 20.892
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021707 50 64 26 95 52 80 46 53 58 100 46 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
2025/2026106 106 0 0 0 0 0 0 0 0 0 0 0
Totale 8.271