PROVENZANO, ALDESIA
 Distribuzione geografica
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Continente #
EU - Europa 3.561
NA - Nord America 2.683
AS - Asia 441
AF - Africa 12
SA - Sud America 3
Continente sconosciuto - Info sul continente non disponibili 1
Totale 6.701
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Nazione #
US - Stati Uniti d'America 2.673
IT - Italia 1.447
RU - Federazione Russa 726
PL - Polonia 692
IE - Irlanda 228
SE - Svezia 171
SG - Singapore 126
CN - Cina 123
HK - Hong Kong 119
FI - Finlandia 55
UA - Ucraina 47
CH - Svizzera 40
FR - Francia 28
DE - Germania 26
NL - Olanda 25
GB - Regno Unito 23
IN - India 20
VN - Vietnam 19
JO - Giordania 18
ES - Italia 13
BE - Belgio 11
BG - Bulgaria 11
CI - Costa d'Avorio 10
CA - Canada 9
GR - Grecia 5
AT - Austria 4
KR - Corea 4
RO - Romania 4
BR - Brasile 3
IR - Iran 3
TR - Turchia 3
CZ - Repubblica Ceca 2
PT - Portogallo 2
AM - Armenia 1
BY - Bielorussia 1
EU - Europa 1
ID - Indonesia 1
JP - Giappone 1
KE - Kenya 1
KZ - Kazakistan 1
MX - Messico 1
PK - Pakistan 1
SC - Seychelles 1
UZ - Uzbekistan 1
Totale 6.701
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Città #
Warsaw 690
Santa Clara 647
Dublin 225
Fairfield 212
Chandler 211
Ashburn 128
Woodbridge 126
Singapore 105
Florence 102
Seattle 94
Houston 93
Ann Arbor 89
Milan 85
Cambridge 80
Hong Kong 71
Rome 66
Princeton 65
Wilmington 64
Altamura 55
Lawrence 55
Buffalo 51
Beijing 48
Boston 40
Bern 34
Moscow 31
Shanghai 31
Cagliari 26
San Diego 23
Boardman 22
Bari 21
Bologna 20
Dearborn 20
Genoa 19
Medford 18
Dong Ket 17
Jacksonville 16
Naples 16
Helsinki 15
Mumbai 15
Kent 14
Norwalk 14
Trento 14
Los Angeles 13
Napoli 13
Padova 13
Bremen 12
Sofia 11
Turin 11
Abidjan 10
Barcelona 10
Brussels 10
Andover 8
Foggia 8
Torino 8
Toronto 8
Catania 7
Giugliano in Campania 7
Prato 7
Verona 7
Yubileyny 7
New York 6
Palermo 6
Redwood City 6
Rubano 6
Hillsboro 5
Messina 5
Pavia 5
Pisa 5
Taranto 5
Trieste 5
Bergamo 4
Brescia 4
Campi Bisenzio 4
Grumo Appula 4
Isola della Scala 4
Monza 4
Paris 4
Perugia 4
Sassari 4
Seoul 4
Sestu 4
Vienna 4
Avigliano Umbro 3
Bolzano 3
Budrio 3
Casoria 3
Castellina In Chianti 3
Chicago 3
Como 3
Cosenza 3
Dallas 3
Guangzhou 3
Laurel 3
L’Aquila 3
Marnate 3
Modena 3
Pescara 3
Phoenix 3
Poggio a Caiano 3
Ravenna 3
Totale 4.114
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Nome #
Cromotripsi un nuovo meccanismo alla base di riarrangiamenti genomici complessi 1.275
Comprehensive investigation in patients affected by sperm macrocephaly and globozoospermia 280
NF2 mutation screening by denaturing high-performance liquid chromatography and high-resolution melting analysis 279
SLMSuite: a suite of algorithms for segmenting genomic profiles 229
PROFILO CLINICO E MOLECOLARE DI PAZIENTI AFFETTI DA ACIDOSI TUBULARE RENALE DISTALE 189
Genome-wide copy number analysis in pediatric glioblastoma multiforme. 154
NEXT GENERATION SEQUENCING: IMPLICAZIONI NELLA PRATICA CLINICA E NELLA DIAGNOSI DELLA SINDROME NEFROSICA STEROIDO-RESISTENTE 151
Bicuspid Aortic Valve: Role of Multiple Gene Variants in Influencing the Clinical Phenotype 151
Michelangelo’s David: triumph of perfection or perfect combination of variation and disproportions? A human perspective. 145
NGS e malattie renali: aspetti clinici e molecolari delle acidosi tubulari renali 142
The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis 141
Reverse phenotyping after whole-Exome sequencing in steroid-resistant nephrotic syndrome 137
De novo unbalanced translocations have a complex history/aetiology 129
LA NUOVA ERA NELLA DIAGNOSI CLINICO-GENETICA DEL DIABETE MONOFATTORIALE E DIABETE TIPO 2: SCREENING MEDIANTE NEXT GENERATION SEQUENCING 126
Small supernumerary marker chromosomes: A legacy of trisomy rescue? 126
Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutation 124
Heterogeneous genetic alterations in sporadic nephrotic syndrome associate with resistance to immunosuppression 124
Prenatal diagnosis of X-linked adrenoleukodystrophy associated with isolated pericardial effusion 123
Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin remodeling genes 121
Human urine-derived renal progenitors for personalized modeling of genetic kidney disorders 119
Lessons from genetics: is it time to revise the therapeutic approach to children with steroid-resistant nephrotic syndrome? 113
Molecular characterization of paediatric glioneuronal tumours with neuropil-like islands: a genome-wide copy number analysis. 111
NF2 mutation screening by denaturing high-performance liquid chromatography and high-resolution melting analysis. 108
Therapeutic implications of novel mutations of the RFX6 gene associated with early-onset diabetes 108
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 101
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 100
Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomalies 93
A DNA resequencing array for genes involved in MODY/Type 2 Diabetes: a new era in clinical and molecular diagnosis 90
Noninvasive Prenatal Diagnosis in a Family at Risk for Fraser Syndrome 89
Next generation sequencing and functional analysis of patient urine renal progenitor-derived podocytes to unravel the diagnosis underlying refractory lupus nephritis 89
Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas. 87
Disseminated Mycobacterium xenopi in an Adult with IL-12Rβ1 Deficiency 85
High throughput sequencing in sporadic forms of steroid-resistant nephrotic syndrome in children frequently identifies heterogeneous genetic alterations that predict resistance to immunosuppressive treatments 82
Identification and characterization of a new candidate gene for steroid resistant nephrotic syndrome 80
CARATTERIZZAZIONE CLINICA, MOLECOLARE E FUNZIONALE DI SOGGETTI CON ACIDOSI TUBULARE RENALE DISTALE 79
Severe Obesity Associated with Severe Hyperinsulinism and T2D in a Family with Mutation in SH2B1 Gene 78
Ruxolitinib is an effective treatment for CALR-positive patients with myelofibrosis 76
Heterogeneous Genetic Alterations Predict Resistance To Immunosuppressive Treatments In Sporadic Steroid-resistant Nephrotic Syndrome. 74
Novel Germline PHD2 Variant in a Metastatic Pheochromocytoma and Chronic Myeloid Leukemia, but in the Absence of Polycythemia 70
URINE-DERIVED HUMAN RENAL PROGENITOR CULTURES FOR MODELING OF GENETIC KIDNEY DISORDERS 69
High Throughput Sequencing Approach Identify MAFA as the fourteenth MODY gene 65
TOWARD THE GENETIC BASIS OF OESOPHAGEAL ATRESIA: CLINICAL AND MOLECULAR STUDY BY NEXT GENERATION SEQUENCING 63
STUDIO CLINICO, GENETICO E MOLECOLARE DI FAMIGLIE ITALIANE AFFETTE DA MODY 63
Urine-derived human renal progenitor cultures for modeling of genetic kidney disorders in subject studied by Next Generation Sequencing 61
The promise and challenge of high throughput sequencing to discover genes involved in Medullary Sponge Kidney disease 60
High throughput sequencing in sporadic forms of steroid-resistant nephrotic syndrome: heterogeneous genetic alterations can predict resistance to treatments 60
Novel Sources of Biodiversity and Biomolecules from Bacteria Isolated from a High Middle Ages Soil Sample in Palermo (Sicily, Italy) 57
Neurocutaneous Melanosis Is Not Always a Benign Disease 56
Variants Disrupting CD40L Transmembrane Domain and Atypical X-Linked Hyper-IgM Syndrome: A Case Report With Leishmaniasis and Review of the Literature 52
NEXT GENERATION SEQUENCING: IMPLICATIONS IN CLINICAL PRACTICE AND DIAGNOSIS OF STEROID-RESISTANT NEPHROTIC SYNDROME 46
Targeted sequencing experiments for rare disease alleles: implications in clinical practice and diagnosis of steroid-resistant nephrotic syndrome 42
MODY/Type 2 Diabetes: molecular analysis of a large cohort of patients by Next Generation Sequencing 41
Next generation sequencing in renal disorders: molecular and clinical aspects of renal tubular acidosis 41
Targeted resequencing for analysis of gene mutations in pediatric Glioblastoma Multiforme 36
Totale 6.790
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Categoria #
all - tutte 16.770
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 16.770
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020557 0 0 0 0 80 86 67 83 75 69 71 26
2020/2021701 49 63 26 95 52 78 46 53 57 100 46 36
2021/2022509 19 46 47 27 16 36 33 23 24 31 85 122
2022/20231.266 116 188 58 86 101 191 157 86 127 23 62 71
2023/2024840 43 57 101 51 63 73 126 117 26 65 63 55
2024/20251.845 122 269 145 468 841 0 0 0 0 0 0 0
Totale 6.790