PROVENZANO, ALDESIA
 Distribuzione geografica
Continente #
EU - Europa 3.417
NA - Nord America 1.988
AS - Asia 402
AF - Africa 12
SA - Sud America 2
Continente sconosciuto - Info sul continente non disponibili 1
Totale 5.822
Nazione #
US - Stati Uniti d'America 1.978
IT - Italia 1.388
PL - Polonia 692
RU - Federazione Russa 660
IE - Irlanda 232
SE - Svezia 172
HK - Hong Kong 120
CN - Cina 113
SG - Singapore 99
FI - Finlandia 52
UA - Ucraina 47
CH - Svizzera 40
FR - Francia 28
DE - Germania 26
GB - Regno Unito 25
IN - India 20
VN - Vietnam 19
JO - Giordania 18
ES - Italia 12
BE - Belgio 11
BG - Bulgaria 10
CI - Costa d'Avorio 10
CA - Canada 9
GR - Grecia 5
NL - Olanda 5
AT - Austria 4
KR - Corea 4
TR - Turchia 4
IR - Iran 3
RO - Romania 3
BR - Brasile 2
CZ - Repubblica Ceca 2
PT - Portogallo 2
BY - Bielorussia 1
EU - Europa 1
ID - Indonesia 1
KE - Kenya 1
MX - Messico 1
PK - Pakistan 1
SC - Seychelles 1
Totale 5.822
Città #
Warsaw 690
Dublin 229
Fairfield 217
Chandler 216
Ashburn 133
Woodbridge 133
Florence 102
Seattle 98
Houston 97
Ann Arbor 91
Cambridge 85
Milan 77
Singapore 76
Hong Kong 71
Princeton 66
Wilmington 66
Rome 65
Altamura 57
Lawrence 57
Buffalo 52
Beijing 49
Boston 41
Bern 34
Shanghai 31
Cagliari 24
Boardman 23
San Diego 23
Bari 21
Bologna 20
Dearborn 20
Moscow 20
Medford 18
Dong Ket 17
Genoa 17
Jacksonville 16
Naples 16
Santa Clara 16
Mumbai 15
Norwalk 15
Kent 14
Trento 14
Bremen 13
Los Angeles 13
Napoli 13
Padova 13
Helsinki 11
Turin 11
Abidjan 10
Barcelona 10
Brussels 10
Sofia 10
Andover 8
Foggia 8
Torino 8
Toronto 8
Catania 7
Giugliano in Campania 7
Prato 7
New York 6
Palermo 6
Redwood City 6
Rubano 6
Hillsboro 5
Messina 5
Pisa 5
Taranto 5
Trieste 5
Verona 5
Bergamo 4
Brescia 4
Campi Bisenzio 4
Grumo Appula 4
Isola della Scala 4
Monza 4
Paris 4
Sassari 4
Seoul 4
Sestu 4
Vienna 4
Avigliano Umbro 3
Bolzano 3
Casoria 3
Castellina In Chianti 3
Chicago 3
Como 3
Cosenza 3
Dallas 3
Laurel 3
L’Aquila 3
Marnate 3
Modena 3
Pavia 3
Pescara 3
Phoenix 3
Poggio a Caiano 3
Ravenna 3
Siena 3
Tappahannock 3
Treviso 3
Vercelli 3
Totale 3.470
Nome #
Cromotripsi un nuovo meccanismo alla base di riarrangiamenti genomici complessi 1.192
NF2 mutation screening by denaturing high-performance liquid chromatography and high-resolution melting analysis 262
Comprehensive investigation in patients affected by sperm macrocephaly and globozoospermia 262
SLMSuite: a suite of algorithms for segmenting genomic profiles 208
PROFILO CLINICO E MOLECOLARE DI PAZIENTI AFFETTI DA ACIDOSI TUBULARE RENALE DISTALE 176
Genome-wide copy number analysis in pediatric glioblastoma multiforme. 141
NEXT GENERATION SEQUENCING: IMPLICAZIONI NELLA PRATICA CLINICA E NELLA DIAGNOSI DELLA SINDROME NEFROSICA STEROIDO-RESISTENTE 135
Bicuspid Aortic Valve: Role of Multiple Gene Variants in Influencing the Clinical Phenotype 135
Michelangelo’s David: triumph of perfection or perfect combination of variation and disproportions? A human perspective. 126
The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis 124
NGS e malattie renali: aspetti clinici e molecolari delle acidosi tubulari renali 123
Reverse phenotyping after whole-Exome sequencing in steroid-resistant nephrotic syndrome 120
LA NUOVA ERA NELLA DIAGNOSI CLINICO-GENETICA DEL DIABETE MONOFATTORIALE E DIABETE TIPO 2: SCREENING MEDIANTE NEXT GENERATION SEQUENCING 112
Prenatal diagnosis of X-linked adrenoleukodystrophy associated with isolated pericardial effusion 112
Heterogeneous genetic alterations in sporadic nephrotic syndrome associate with resistance to immunosuppression 109
De novo unbalanced translocations have a complex history/aetiology 109
Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutation 107
Small supernumerary marker chromosomes: A legacy of trisomy rescue? 107
Human urine-derived renal progenitors for personalized modeling of genetic kidney disorders 103
Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin remodeling genes 99
Lessons from genetics: is it time to revise the therapeutic approach to children with steroid-resistant nephrotic syndrome? 96
Molecular characterization of paediatric glioneuronal tumours with neuropil-like islands: a genome-wide copy number analysis. 95
NF2 mutation screening by denaturing high-performance liquid chromatography and high-resolution melting analysis. 92
Therapeutic implications of novel mutations of the RFX6 gene associated with early-onset diabetes 87
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 84
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 83
Transient hyperoxaluria in a patient with inherited distal renal tubular acidosis 82
A DNA resequencing array for genes involved in MODY/Type 2 Diabetes: a new era in clinical and molecular diagnosis 75
Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomalies 73
Next generation sequencing and functional analysis of patient urine renal progenitor-derived podocytes to unravel the diagnosis underlying refractory lupus nephritis 73
Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas. 72
Disseminated Mycobacterium xenopi in an Adult with IL-12Rβ1 Deficiency 72
High throughput sequencing in sporadic forms of steroid-resistant nephrotic syndrome in children frequently identifies heterogeneous genetic alterations that predict resistance to immunosuppressive treatments 68
Noninvasive Prenatal Diagnosis in a Family at Risk for Fraser Syndrome 67
Identification and characterization of a new candidate gene for steroid resistant nephrotic syndrome 64
CARATTERIZZAZIONE CLINICA, MOLECOLARE E FUNZIONALE DI SOGGETTI CON ACIDOSI TUBULARE RENALE DISTALE 63
Ruxolitinib is an effective treatment for CALR-positive patients with myelofibrosis 59
Severe Obesity Associated with Severe Hyperinsulinism and T2D in a Family with Mutation in SH2B1 Gene 59
Heterogeneous Genetic Alterations Predict Resistance To Immunosuppressive Treatments In Sporadic Steroid-resistant Nephrotic Syndrome. 56
Novel Germline PHD2 Variant in a Metastatic Pheochromocytoma and Chronic Myeloid Leukemia, but in the Absence of Polycythemia 53
URINE-DERIVED HUMAN RENAL PROGENITOR CULTURES FOR MODELING OF GENETIC KIDNEY DISORDERS 51
STUDIO CLINICO, GENETICO E MOLECOLARE DI FAMIGLIE ITALIANE AFFETTE DA MODY 50
High Throughput Sequencing Approach Identify MAFA as the fourteenth MODY gene 47
Urine-derived human renal progenitor cultures for modeling of genetic kidney disorders in subject studied by Next Generation Sequencing 47
TOWARD THE GENETIC BASIS OF OESOPHAGEAL ATRESIA: CLINICAL AND MOLECULAR STUDY BY NEXT GENERATION SEQUENCING 44
High throughput sequencing in sporadic forms of steroid-resistant nephrotic syndrome: heterogeneous genetic alterations can predict resistance to treatments 43
Neurocutaneous Melanosis Is Not Always a Benign Disease 42
The promise and challenge of high throughput sequencing to discover genes involved in Medullary Sponge Kidney disease 41
Novel Sources of Biodiversity and Biomolecules from Bacteria Isolated from a High Middle Ages Soil Sample in Palermo (Sicily, Italy) 38
Variants Disrupting CD40L Transmembrane Domain and Atypical X-Linked Hyper-IgM Syndrome: A Case Report With Leishmaniasis and Review of the Literature 38
NEXT GENERATION SEQUENCING: IMPLICATIONS IN CLINICAL PRACTICE AND DIAGNOSIS OF STEROID-RESISTANT NEPHROTIC SYNDROME 33
Targeted sequencing experiments for rare disease alleles: implications in clinical practice and diagnosis of steroid-resistant nephrotic syndrome 28
MODY/Type 2 Diabetes: molecular analysis of a large cohort of patients by Next Generation Sequencing 27
Next generation sequencing in renal disorders: molecular and clinical aspects of renal tubular acidosis 27
Targeted resequencing for analysis of gene mutations in pediatric Glioblastoma Multiforme 22
Totale 5.913
Categoria #
all - tutte 15.575
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 15.575


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020615 0 0 0 45 82 89 69 85 77 70 71 27
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
2024/2025897 124 271 147 355 0 0 0 0 0 0 0 0
Totale 5.913