CRIS Current Research Information System

GRAZIANO, CLAUDIO
 Distribuzione geografica
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Continente #
NA - Nord America 2.100
AS - Asia 2.076
EU - Europa 1.398
SA - Sud America 135
AF - Africa 124
OC - Oceania 2
Continente sconosciuto - Info sul continente non disponibili 1
Totale 5.836
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Nazione #
US - Stati Uniti d'America 2.077
SG - Singapore 562
CN - Cina 552
VN - Vietnam 540
IT - Italia 323
GB - Regno Unito 276
DE - Germania 168
SE - Svezia 145
HK - Hong Kong 137
BR - Brasile 99
FR - Francia 95
IN - India 78
NL - Olanda 78
RU - Federazione Russa 71
KR - Corea 64
IE - Irlanda 51
FI - Finlandia 41
UA - Ucraina 39
JP - Giappone 37
CI - Costa d'Avorio 32
TG - Togo 28
ZA - Sudafrica 26
BG - Bulgaria 21
SC - Seychelles 20
CA - Canada 16
PH - Filippine 16
EE - Estonia 15
CH - Svizzera 14
PL - Polonia 14
AR - Argentina 13
JO - Giordania 13
BD - Bangladesh 12
ID - Indonesia 12
AT - Austria 9
IQ - Iraq 9
TH - Thailandia 9
BE - Belgio 8
EC - Ecuador 8
MX - Messico 7
NG - Nigeria 6
TR - Turchia 6
ES - Italia 5
MA - Marocco 5
RO - Romania 5
CZ - Repubblica Ceca 4
PK - Pakistan 4
TW - Taiwan 4
AE - Emirati Arabi Uniti 3
AL - Albania 3
CL - Cile 3
CO - Colombia 3
IR - Iran 3
LT - Lituania 3
PE - Perù 3
PY - Paraguay 3
SA - Arabia Saudita 3
SI - Slovenia 3
GR - Grecia 2
IL - Israele 2
MY - Malesia 2
SY - Repubblica araba siriana 2
UZ - Uzbekistan 2
AM - Armenia 1
AU - Australia 1
AZ - Azerbaigian 1
BO - Bolivia 1
BW - Botswana 1
CG - Congo 1
CM - Camerun 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
LV - Lettonia 1
NZ - Nuova Zelanda 1
PT - Portogallo 1
SN - Senegal 1
TN - Tunisia 1
UY - Uruguay 1
VE - Venezuela 1
Totale 5.836
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Città #
Singapore 403
Ashburn 227
Southend 227
Fairfield 205
Chandler 141
Hong Kong 129
Hefei 125
Ho Chi Minh City 124
Woodbridge 121
Cambridge 106
Seattle 95
San Jose 92
Hanoi 87
Wilmington 82
Houston 76
Dong Ket 73
Santa Clara 73
Seoul 61
Ann Arbor 60
Princeton 60
Beijing 55
Bologna 53
Dublin 51
Boardman 38
Lauterbourg 35
Helsinki 34
Tokyo 33
Abidjan 32
Los Angeles 29
Nanjing 29
Lomé 28
Milan 28
Dallas 27
New York 25
Council Bluffs 24
Turin 24
Westminster 24
Jacksonville 22
Sofia 21
Berlin 19
Guangzhou 18
Buffalo 16
Dearborn 16
Florence 16
Jinan 16
Padova 16
Redondo Beach 16
Da Nang 15
Munich 15
Phoenix 15
Frankfurt am Main 14
Haiphong 14
Saint Petersburg 14
San Diego 14
São Paulo 14
Amman 12
Bengaluru 12
Changsha 12
Nuremberg 11
Hebei 10
London 10
Nanchang 10
Shanghai 10
Warsaw 10
Redmond 9
Tianjin 9
Brussels 8
Jakarta 8
Shenyang 8
Shenzhen 8
Zhengzhou 8
Amsterdam 7
Bern 7
Boydton 7
Des Moines 7
Hangzhou 7
Mülheim 7
Redwood City 7
Wuhan 7
Atlanta 6
Chicago 6
Frankfurt Am Main 6
Montreal 6
Orem 6
Abeokuta 5
Brooklyn 5
Chengdu 5
Johannesburg 5
Shijiazhuang 5
Stockholm 5
Taiyuan 5
Thái Bình 5
Toronto 5
Turku 5
Yubileyny 5
Belo Horizonte 4
Biên Hòa 4
Bremen 4
Can Tho 4
Chennai 4
Totale 3.743
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Nome #
Association of hereditary thrombocythemia and distal limb defects with a thrombopoietin gene mutation. 249
9q31.1q31.3 deletion in two patients with similar clinical features: a newly recognized microdeletion syndrome? 243
Novel Mutations in Neurogenic Chronic Intestinal Pseudo-Obstruction Identified by High-Throughput Sequencing 243
Challenges in the clinical interpretation of small de novo copy number variants in neurodevelopmental disorders 243
A de novo PUF60 mutation in a child with a syndromic form of coloboma and persistent fetal vasculature 227
Maternally inherited genetic variants of CADPS2 are present in Autism Spectrum Disorders and Intellectual Disability patients. 211
Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes 205
Genetics of human enteric neuropathies. 204
FA2H-related disorders: a novel c.270+3A>T splice-site mutation leads to a complex neurodegenerative phenotype. 202
Cytogenetic and molecular characterization of a recombinant X chromosome in a family with a severe neurologic phenotype and macular degeneration 200
A regional audit system for stillbirth: A way to better understand the phenomenon 196
Mutations in RAD21 Disrupt Regulation of APOB in Patients With Chronic Intestinal Pseudo-Obstruction. 195
Aortic arch geometry predicts outcome in patients with Loeys–Dietz syndrome independent of the causative gene 194
Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study 191
Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts 190
Two novel PRNP truncating mutations broaden the spectrum of prion amyloidosis 175
New patients with Temple syndrome caused by 14q32 deletion: Genotype-phenotype correlations and risk of thyroid cancer 171
HDAC9 structural variants disrupting TWIST1 transcriptional regulation lead to craniofacial and limb malformations 169
An additional family with association of hereditary thrombocytosis and transverse limb deficiency: confirmation of a rare clinical spectrum. 161
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 161
Clinical Relevance of IFT140 Loss-of-Function Variants in Development of Renal Cysts 150
Kidney transplant in fabry disease: A revision of the literature 150
Fanconi-Bickel syndrome: a mild form associated with GLUT2 mutation 149
Functional Analysis of Missense Mutations of OAT, Causing Gyrate Atrophy of Choroid and Retina. 148
Two distinct thyroid tumours in a Cowden Syndrome patient carrying both a 10q23 and a mitochondrial DNA germline deletion 143
Su2019 Functional Characterization of a Novel RAD21 Mutation in Familial Chronic Intestinal Pseudo-Obstruction (CIPO) 142
MAYO AND PRO-PKD SCORE CONCORDANCE FOR PROGRESSION OF RENAL FALIURE EVALUATION IN ADPKD PATIENTS 134
Clinical interpretation of aCGH results in patients with neurodevelopmental disorders by geneticists: impact on diagnostic yield 133
Preferences of Italian patients for return of secondary findings from clinical genome/exome sequencing 125
Low WT1 Expression Identifies a Subset of Acute Myeloid Leukemia with a Distinct Genotype 120
Test genetici e consenso informato 119
Lights and shadows in the genetics of syndromic and non-syndromic hearing loss in the Italian population 111
CDK13-Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management 96
There Is More Than Meets the Eye: Identification of Dual Molecular Diagnosis in Patients Affected by Hearing Loss 90
High prevalence of arterial dissection in patients with Loeys-Dietz syndrome and cerebral aneurysm 79
Increased intracranial arterial tortuosity is associated with worse cardiovascular outcome in patients with Loeys-Dietz syndrome 77
Totale 5.996
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Categoria #
all - tutte 14.989
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 14.989
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021241 0 0 0 0 0 0 0 0 0 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
2025/20262.126 234 245 201 218 200 107 207 117 439 158 0 0
Totale 5.996