CRIS Current Research Information System

GRAZIANO, CLAUDIO
 Distribuzione geografica
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Continente #
NA - Nord America 1.877
AS - Asia 1.537
EU - Europa 1.256
AF - Africa 118
SA - Sud America 118
OC - Oceania 2
Continente sconosciuto - Info sul continente non disponibili 1
Totale 4.909
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Nazione #
US - Stati Uniti d'America 1.858
SG - Singapore 488
CN - Cina 475
IT - Italia 274
GB - Regno Unito 264
VN - Vietnam 247
DE - Germania 159
SE - Svezia 144
HK - Hong Kong 125
BR - Brasile 90
NL - Olanda 76
IN - India 72
RU - Federazione Russa 71
KR - Corea 60
FR - Francia 56
IE - Irlanda 50
UA - Ucraina 37
CI - Costa d'Avorio 31
FI - Finlandia 30
TG - Togo 28
ZA - Sudafrica 22
BG - Bulgaria 21
SC - Seychelles 20
JP - Giappone 17
EE - Estonia 15
CA - Canada 13
CH - Svizzera 13
AR - Argentina 12
JO - Giordania 12
ID - Indonesia 10
AT - Austria 9
BE - Belgio 8
BD - Bangladesh 7
PL - Polonia 7
EC - Ecuador 6
MX - Messico 6
NG - Nigeria 6
MA - Marocco 5
RO - Romania 5
AE - Emirati Arabi Uniti 3
CZ - Repubblica Ceca 3
ES - Italia 3
IR - Iran 3
PE - Perù 3
PH - Filippine 3
AL - Albania 2
CL - Cile 2
CO - Colombia 2
GR - Grecia 2
IL - Israele 2
IQ - Iraq 2
LT - Lituania 2
MY - Malesia 2
SA - Arabia Saudita 2
AM - Armenia 1
AU - Australia 1
BO - Bolivia 1
BW - Botswana 1
CG - Congo 1
CY - Cipro 1
DK - Danimarca 1
EG - Egitto 1
EU - Europa 1
HR - Croazia 1
IS - Islanda 1
KE - Kenya 1
KW - Kuwait 1
NZ - Nuova Zelanda 1
PK - Pakistan 1
PT - Portogallo 1
PY - Paraguay 1
SI - Slovenia 1
SN - Senegal 1
SY - Repubblica araba siriana 1
TN - Tunisia 1
TR - Turchia 1
UY - Uruguay 1
UZ - Uzbekistan 1
Totale 4.909
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Città #
Singapore 335
Southend 227
Ashburn 212
Fairfield 205
Chandler 141
Hefei 125
Hong Kong 125
Woodbridge 121
Seattle 95
Wilmington 82
Houston 76
Cambridge 75
Dong Ket 73
Santa Clara 72
Ann Arbor 60
Princeton 60
Seoul 60
Beijing 55
Dublin 50
Bologna 48
Ho Chi Minh City 41
Boardman 38
Abidjan 31
Nanjing 29
Lomé 28
Los Angeles 28
Milan 27
Dallas 26
Westminster 24
Helsinki 23
Turin 23
Jacksonville 22
New York 22
Sofia 21
Hanoi 20
Berlin 19
Tokyo 17
Dearborn 16
Florence 16
Jinan 16
Padova 16
Redondo Beach 16
Buffalo 15
Munich 15
Phoenix 15
Saint Petersburg 14
San Diego 14
São Paulo 14
Guangzhou 13
Amman 12
Bengaluru 12
Changsha 12
Nuremberg 11
Hebei 10
Nanchang 9
Redmond 9
Tianjin 9
Brussels 8
Jakarta 8
Shenyang 8
Zhengzhou 8
Bern 7
Da Nang 7
Mülheim 7
Redwood City 7
Amsterdam 6
Boydton 6
Des Moines 6
Frankfurt Am Main 6
Frankfurt am Main 6
London 6
Shanghai 6
Abeokuta 5
Brooklyn 5
Orem 5
Shenzhen 5
Turku 5
Warsaw 5
Yubileyny 5
Belo Horizonte 4
Bremen 4
Chennai 4
Chicago 4
Denver 4
Haikou 4
Haiphong 4
Harbin 4
Medford 4
Montreal 4
Shijiazhuang 4
Stockholm 4
Taiyuan 4
Toronto 4
Wuhan 4
Atlanta 3
Boston 3
Brescia 3
Cesenatico 3
Düsseldorf 3
Guayaquil 3
Totale 3.215
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Nome #
Association of hereditary thrombocythemia and distal limb defects with a thrombopoietin gene mutation. 231
9q31.1q31.3 deletion in two patients with similar clinical features: a newly recognized microdeletion syndrome? 228
Novel Mutations in Neurogenic Chronic Intestinal Pseudo-Obstruction Identified by High-Throughput Sequencing 214
Challenges in the clinical interpretation of small de novo copy number variants in neurodevelopmental disorders 214
A de novo PUF60 mutation in a child with a syndromic form of coloboma and persistent fetal vasculature 193
Maternally inherited genetic variants of CADPS2 are present in Autism Spectrum Disorders and Intellectual Disability patients. 187
Genetics of human enteric neuropathies. 187
FA2H-related disorders: a novel c.270+3A>T splice-site mutation leads to a complex neurodegenerative phenotype. 182
Cytogenetic and molecular characterization of a recombinant X chromosome in a family with a severe neurologic phenotype and macular degeneration 178
Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study 171
Aortic arch geometry predicts outcome in patients with Loeys–Dietz syndrome independent of the causative gene 167
Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes 166
Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts 165
Mutations in RAD21 Disrupt Regulation of APOB in Patients With Chronic Intestinal Pseudo-Obstruction. 161
Two novel PRNP truncating mutations broaden the spectrum of prion amyloidosis 161
A regional audit system for stillbirth: A way to better understand the phenomenon 159
New patients with Temple syndrome caused by 14q32 deletion: Genotype-phenotype correlations and risk of thyroid cancer 151
An additional family with association of hereditary thrombocytosis and transverse limb deficiency: confirmation of a rare clinical spectrum. 149
HDAC9 structural variants disrupting TWIST1 transcriptional regulation lead to craniofacial and limb malformations 143
Genomic Studies in a Large Cohort of Hearing Impaired Italian Patients Revealed Several New Alleles, a Rare Case of Uniparental Disomy (UPD) and the Importance to Search for Copy Number Variations 132
Fanconi-Bickel syndrome: a mild form associated with GLUT2 mutation 130
Kidney transplant in fabry disease: A revision of the literature 123
Two distinct thyroid tumours in a Cowden Syndrome patient carrying both a 10q23 and a mitochondrial DNA germline deletion 120
Su2019 Functional Characterization of a Novel RAD21 Mutation in Familial Chronic Intestinal Pseudo-Obstruction (CIPO) 118
MAYO AND PRO-PKD SCORE CONCORDANCE FOR PROGRESSION OF RENAL FALIURE EVALUATION IN ADPKD PATIENTS 109
Functional Analysis of Missense Mutations of OAT, Causing Gyrate Atrophy of Choroid and Retina. 106
Test genetici e consenso informato 105
Clinical Relevance of IFT140 Loss-of-Function Variants in Development of Renal Cysts 104
Clinical interpretation of aCGH results in patients with neurodevelopmental disorders by geneticists: impact on diagnostic yield 103
Preferences of Italian patients for return of secondary findings from clinical genome/exome sequencing 96
Low WT1 Expression Identifies a Subset of Acute Myeloid Leukemia with a Distinct Genotype 86
Lights and shadows in the genetics of syndromic and non-syndromic hearing loss in the Italian population 82
High prevalence of arterial dissection in patients with Loeys-Dietz syndrome and cerebral aneurysm 62
There Is More Than Meets the Eye: Identification of Dual Molecular Diagnosis in Patients Affected by Hearing Loss 62
CDK13-Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management 61
Increased intracranial arterial tortuosity is associated with worse cardiovascular outcome in patients with Loeys-Dietz syndrome 55
Totale 5.061
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Categoria #
all - tutte 13.617
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 13.617
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021351 0 0 0 0 0 18 9 21 62 20 21 200
2021/2022595 40 18 34 24 46 35 10 40 26 45 186 91
2022/2023664 73 76 39 68 47 62 26 33 119 14 84 23
2023/2024168 14 32 13 11 15 45 8 8 3 7 4 8
2024/2025895 32 125 86 59 110 46 48 28 12 94 47 208
2025/20261.191 234 245 201 218 200 93 0 0 0 0 0 0
Totale 5.061