PROVENZANO, ALDESIA
 Distribuzione geografica
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Continente #
EU - Europa 5.330
NA - Nord America 4.773
AS - Asia 1.738
SA - Sud America 202
Continente sconosciuto - Info sul continente non disponibili 93
AF - Africa 45
OC - Oceania 26
Totale 12.207
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Nazione #
US - Stati Uniti d'America 4.668
IT - Italia 2.438
RU - Federazione Russa 965
PL - Polonia 709
SG - Singapore 497
CN - Cina 427
HK - Hong Kong 277
IE - Irlanda 234
NL - Olanda 209
SE - Svezia 177
BR - Brasile 158
VN - Vietnam 158
KR - Corea 120
FR - Francia 117
DE - Germania 111
FI - Finlandia 104
GB - Regno Unito 73
CA - Canada 68
BD - Bangladesh 58
UA - Ucraina 56
IN - India 42
CH - Svizzera 41
JP - Giappone 34
ES - Italia 27
AU - Australia 26
JO - Giordania 22
AR - Argentina 19
ID - Indonesia 18
IQ - Iraq 17
MX - Messico 17
BE - Belgio 16
BG - Bulgaria 11
CI - Costa d'Avorio 10
PK - Pakistan 10
TR - Turchia 8
GR - Grecia 7
PT - Portogallo 7
RO - Romania 7
ZA - Sudafrica 7
CL - Cile 6
CO - Colombia 6
CZ - Repubblica Ceca 6
NP - Nepal 6
PH - Filippine 6
CR - Costa Rica 5
EC - Ecuador 5
EG - Egitto 5
KE - Kenya 5
NG - Nigeria 5
AT - Austria 4
NI - Nicaragua 4
SA - Arabia Saudita 4
UZ - Uzbekistan 4
VE - Venezuela 4
BY - Bielorussia 3
DZ - Algeria 3
HN - Honduras 3
IR - Iran 3
LT - Lituania 3
MA - Marocco 3
MY - Malesia 3
OM - Oman 3
TN - Tunisia 3
UY - Uruguay 3
AL - Albania 2
AM - Armenia 2
AZ - Azerbaigian 2
CG - Congo 2
GT - Guatemala 2
IL - Israele 2
JM - Giamaica 2
KZ - Kazakistan 2
LK - Sri Lanka 2
QA - Qatar 2
TH - Thailandia 2
TT - Trinidad e Tobago 2
TW - Taiwan 2
AE - Emirati Arabi Uniti 1
BJ - Benin 1
DO - Repubblica Dominicana 1
EU - Europa 1
HU - Ungheria 1
KH - Cambogia 1
LB - Libano 1
MK - Macedonia 1
MN - Mongolia 1
PE - Perù 1
PR - Porto Rico 1
RS - Serbia 1
SC - Seychelles 1
TL - Timor Orientale 1
Totale 12.115
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Città #
Santa Clara 999
Warsaw 700
Ashburn 661
Singapore 353
San Jose 253
Dublin 230
Milan 230
Hong Kong 225
Chandler 217
Fairfield 217
Beijing 136
Florence 136
Rome 136
Woodbridge 133
Seoul 120
Houston 103
Seattle 101
Ann Arbor 92
Cambridge 86
Council Bluffs 78
Buffalo 77
Wilmington 68
Princeton 66
Los Angeles 59
Altamura 57
Lawrence 57
Dallas 56
Munich 53
The Dalles 50
Ho Chi Minh City 44
Boston 43
Lauterbourg 42
Moscow 41
Helsinki 39
Bologna 36
Shanghai 36
Bari 35
New York 35
Bern 34
Turin 34
Tokyo 33
Cagliari 32
Hanoi 29
São Paulo 29
Naples 28
Melbourne 25
Genoa 24
Toronto 24
Boardman 23
San Diego 23
Chicago 22
Paris 22
Clifton 21
Mumbai 21
Dearborn 20
Turku 19
Medford 18
Dong Ket 17
Jacksonville 17
Frankfurt am Main 16
Hefei 16
Jakarta 16
Norwalk 16
Palermo 16
Kent 15
Trento 15
Phoenix 14
Bremen 13
Brussels 13
Napoli 13
Padova 13
Redondo Beach 13
Brescia 12
Figino 12
Manchester 12
Atlanta 11
Brooklyn 11
Catania 11
Denver 11
Sofia 11
Abidjan 10
Barcelona 10
London 10
Tianjin 10
Montreal 9
Verona 9
Andover 8
Baghdad 8
Foggia 8
Giugliano in Campania 8
Orem 8
Poplar 8
Prato 8
Torino 8
Amsterdam 7
Mexico City 7
Modena 7
Pavia 7
Perugia 7
Pisa 7
Totale 7.059
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Nome #
Cromotripsi un nuovo meccanismo alla base di riarrangiamenti genomici complessi 2.285
Comprehensive investigation in patients affected by sperm macrocephaly and globozoospermia 398
NF2 mutation screening by denaturing high-performance liquid chromatography and high-resolution melting analysis 377
SLMSuite: a suite of algorithms for segmenting genomic profiles 300
Bicuspid Aortic Valve: Role of Multiple Gene Variants in Influencing the Clinical Phenotype 266
Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin remodeling genes 255
PROFILO CLINICO E MOLECOLARE DI PAZIENTI AFFETTI DA ACIDOSI TUBULARE RENALE DISTALE 254
Reverse phenotyping after whole-Exome sequencing in steroid-resistant nephrotic syndrome 250
Genome-wide copy number analysis in pediatric glioblastoma multiforme. 237
NEXT GENERATION SEQUENCING: IMPLICAZIONI NELLA PRATICA CLINICA E NELLA DIAGNOSI DELLA SINDROME NEFROSICA STEROIDO-RESISTENTE 235
NGS e malattie renali: aspetti clinici e molecolari delle acidosi tubulari renali 234
Michelangelo’s David: triumph of perfection or perfect combination of variation and disproportions? A human perspective. 234
De novo unbalanced translocations have a complex history/aetiology 218
The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis 217
Small supernumerary marker chromosomes: A legacy of trisomy rescue? 217
Variants Disrupting CD40L Transmembrane Domain and Atypical X-Linked Hyper-IgM Syndrome: A Case Report With Leishmaniasis and Review of the Literature 201
Human urine-derived renal progenitors for personalized modeling of genetic kidney disorders 199
Novel Sources of Biodiversity and Biomolecules from Bacteria Isolated from a High Middle Ages Soil Sample in Palermo (Sicily, Italy) 198
Molecular characterization of paediatric glioneuronal tumours with neuropil-like islands: a genome-wide copy number analysis. 196
Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutation 194
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 194
Therapeutic implications of novel mutations of the RFX6 gene associated with early-onset diabetes 193
Heterogeneous genetic alterations in sporadic nephrotic syndrome associate with resistance to immunosuppression 191
Lessons from genetics: is it time to revise the therapeutic approach to children with steroid-resistant nephrotic syndrome? 189
NF2 mutation screening by denaturing high-performance liquid chromatography and high-resolution melting analysis. 185
A DNA resequencing array for genes involved in MODY/Type 2 Diabetes: a new era in clinical and molecular diagnosis 184
High throughput sequencing in sporadic forms of steroid-resistant nephrotic syndrome in children frequently identifies heterogeneous genetic alterations that predict resistance to immunosuppressive treatments 182
Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomalies 181
Novel Germline PHD2 Variant in a Metastatic Pheochromocytoma and Chronic Myeloid Leukemia, but in the Absence of Polycythemia 177
LA NUOVA ERA NELLA DIAGNOSI CLINICO-GENETICA DEL DIABETE MONOFATTORIALE E DIABETE TIPO 2: SCREENING MEDIANTE NEXT GENERATION SEQUENCING 174
Transient hyperoxaluria in a patient with inherited distal renal tubular acidosis 168
Noninvasive Prenatal Diagnosis in a Family at Risk for Fraser Syndrome 167
Heterogeneous Genetic Alterations Predict Resistance To Immunosuppressive Treatments In Sporadic Steroid-resistant Nephrotic Syndrome. 167
Prenatal diagnosis of X-linked adrenoleukodystrophy associated with isolated pericardial effusion 166
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 165
Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas. 162
CARATTERIZZAZIONE CLINICA, MOLECOLARE E FUNZIONALE DI SOGGETTI CON ACIDOSI TUBULARE RENALE DISTALE 160
Disseminated Mycobacterium xenopi in an Adult with IL-12Rβ1 Deficiency 159
Next generation sequencing and functional analysis of patient urine renal progenitor-derived podocytes to unravel the diagnosis underlying refractory lupus nephritis 159
Severe Obesity Associated with Severe Hyperinsulinism and T2D in a Family with Mutation in SH2B1 Gene 147
The promise and challenge of high throughput sequencing to discover genes involved in Medullary Sponge Kidney disease 145
Identification and characterization of a new candidate gene for steroid resistant nephrotic syndrome 145
Ruxolitinib is an effective treatment for CALR-positive patients with myelofibrosis 136
High Throughput Sequencing Approach Identify MAFA as the fourteenth MODY gene 133
High throughput sequencing in sporadic forms of steroid-resistant nephrotic syndrome: heterogeneous genetic alterations can predict resistance to treatments 132
URINE-DERIVED HUMAN RENAL PROGENITOR CULTURES FOR MODELING OF GENETIC KIDNEY DISORDERS 127
STUDIO CLINICO, GENETICO E MOLECOLARE DI FAMIGLIE ITALIANE AFFETTE DA MODY 125
Urine-derived human renal progenitor cultures for modeling of genetic kidney disorders in subject studied by Next Generation Sequencing 118
TOWARD THE GENETIC BASIS OF OESOPHAGEAL ATRESIA: CLINICAL AND MOLECULAR STUDY BY NEXT GENERATION SEQUENCING 116
Next generation sequencing in renal disorders: molecular and clinical aspects of renal tubular acidosis 116
Neurocutaneous Melanosis Is Not Always a Benign Disease 112
NEXT GENERATION SEQUENCING: IMPLICATIONS IN CLINICAL PRACTICE AND DIAGNOSIS OF STEROID-RESISTANT NEPHROTIC SYNDROME 105
Targeted resequencing for analysis of gene mutations in pediatric Glioblastoma Multiforme 89
MODY/Type 2 Diabetes: molecular analysis of a large cohort of patients by Next Generation Sequencing 87
Targeted sequencing experiments for rare disease alleles: implications in clinical practice and diagnosis of steroid-resistant nephrotic syndrome 86
Totale 12.207
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Categoria #
all - tutte 30.513
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 30.513
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022402 0 0 0 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
2025/20263.341 372 370 177 243 403 166 486 184 223 225 125 367
2026/2027701 97 142 349 113 0 0 0 0 0 0 0 0
Totale 12.207