GRAZIANO, CLAUDIO
 Distribuzione geografica
Continente #
NA - Nord America 2.208
AS - Asia 2.105
EU - Europa 1.422
SA - Sud America 138
AF - Africa 124
OC - Oceania 2
Continente sconosciuto - Info sul continente non disponibili 1
Totale 6.000
Nazione #
US - Stati Uniti d'America 2.178
SG - Singapore 566
CN - Cina 554
VN - Vietnam 540
IT - Italia 344
GB - Regno Unito 276
DE - Germania 168
SE - Svezia 145
HK - Hong Kong 139
BR - Brasile 102
FR - Francia 95
NL - Olanda 79
IN - India 78
RU - Federazione Russa 71
KR - Corea 64
IE - Irlanda 51
FI - Finlandia 41
UA - Ucraina 39
JP - Giappone 37
BD - Bangladesh 33
CI - Costa d'Avorio 32
TG - Togo 28
ZA - Sudafrica 26
CA - Canada 22
BG - Bulgaria 21
SC - Seychelles 20
PH - Filippine 16
CH - Svizzera 15
EE - Estonia 15
PL - Polonia 14
AR - Argentina 13
JO - Giordania 13
ID - Indonesia 12
AT - Austria 9
IQ - Iraq 9
TH - Thailandia 9
BE - Belgio 8
EC - Ecuador 8
MX - Messico 8
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
SK - Slovacchia (Repubblica Slovacca) 1
SN - Senegal 1
TN - Tunisia 1
UY - Uruguay 1
VE - Venezuela 1
Totale 6.000
Città #
Singapore 405
Ashburn 233
Southend 227
Fairfield 205
Chandler 141
Hong Kong 131
Hefei 125
Ho Chi Minh City 124
Woodbridge 121
Cambridge 107
San Jose 106
Seattle 97
Hanoi 87
Wilmington 82
Santa Clara 80
Houston 76
Dong Ket 73
Seoul 61
Ann Arbor 60
Princeton 60
Beijing 57
Bologna 55
Dublin 51
Boardman 39
Lauterbourg 35
Helsinki 34
New York 34
Tokyo 33
Abidjan 32
Council Bluffs 31
Los Angeles 30
Milan 30
Dallas 29
Nanjing 29
Lomé 28
Turin 25
Jacksonville 24
Westminster 24
Sofia 21
Berlin 19
Guangzhou 18
Buffalo 17
Phoenix 17
São Paulo 17
Dearborn 16
Florence 16
Jinan 16
Padova 16
Redondo Beach 16
Da Nang 15
Munich 15
San Diego 15
Frankfurt am Main 14
Haiphong 14
Saint Petersburg 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
Orem 8
Shenyang 8
Shenzhen 8
Zhengzhou 8
Amsterdam 7
Bern 7
Boydton 7
Chicago 7
Des Moines 7
Hangzhou 7
Mülheim 7
Redwood City 7
Toronto 7
Wuhan 7
Atlanta 6
Frankfurt Am Main 6
Montreal 6
Abeokuta 5
Brooklyn 5
Chengdu 5
Johannesburg 5
Shijiazhuang 5
Stockholm 5
Taiyuan 5
Thái Bình 5
Turku 5
Yubileyny 5
Belo Horizonte 4
Biên Hòa 4
Bremen 4
Can Tho 4
Chennai 4
Totale 3.818
Nome #
Association of hereditary thrombocythemia and distal limb defects with a thrombopoietin gene mutation. 251
Challenges in the clinical interpretation of small de novo copy number variants in neurodevelopmental disorders 248
9q31.1q31.3 deletion in two patients with similar clinical features: a newly recognized microdeletion syndrome? 245
Novel Mutations in Neurogenic Chronic Intestinal Pseudo-Obstruction Identified by High-Throughput Sequencing 244
A de novo PUF60 mutation in a child with a syndromic form of coloboma and persistent fetal vasculature 232
Maternally inherited genetic variants of CADPS2 are present in Autism Spectrum Disorders and Intellectual Disability patients. 217
Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes 209
FA2H-related disorders: a novel c.270+3A>T splice-site mutation leads to a complex neurodegenerative phenotype. 207
Cytogenetic and molecular characterization of a recombinant X chromosome in a family with a severe neurologic phenotype and macular degeneration 205
Genetics of human enteric neuropathies. 204
Mutations in RAD21 Disrupt Regulation of APOB in Patients With Chronic Intestinal Pseudo-Obstruction. 204
A regional audit system for stillbirth: A way to better understand the phenomenon 202
Aortic arch geometry predicts outcome in patients with Loeys–Dietz syndrome independent of the causative gene 201
Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study 196
Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts 193
Clinical Relevance of IFT140 Loss-of-Function Variants in Development of Renal Cysts 181
New patients with Temple syndrome caused by 14q32 deletion: Genotype-phenotype correlations and risk of thyroid cancer 176
Two novel PRNP truncating mutations broaden the spectrum of prion amyloidosis 176
HDAC9 structural variants disrupting TWIST1 transcriptional regulation lead to craniofacial and limb malformations 170
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 163
An additional family with association of hereditary thrombocytosis and transverse limb deficiency: confirmation of a rare clinical spectrum. 162
Fanconi-Bickel syndrome: a mild form associated with GLUT2 mutation 151
Kidney transplant in fabry disease: A revision of the literature 151
Functional Analysis of Missense Mutations of OAT, Causing Gyrate Atrophy of Choroid and Retina. 150
Two distinct thyroid tumours in a Cowden Syndrome patient carrying both a 10q23 and a mitochondrial DNA germline deletion 144
Su2019 Functional Characterization of a Novel RAD21 Mutation in Familial Chronic Intestinal Pseudo-Obstruction (CIPO) 144
Clinical interpretation of aCGH results in patients with neurodevelopmental disorders by geneticists: impact on diagnostic yield 137
MAYO AND PRO-PKD SCORE CONCORDANCE FOR PROGRESSION OF RENAL FALIURE EVALUATION IN ADPKD PATIENTS 135
Preferences of Italian patients for return of secondary findings from clinical genome/exome sequencing 129
Low WT1 Expression Identifies a Subset of Acute Myeloid Leukemia with a Distinct Genotype 127
Test genetici e consenso informato 123
Lights and shadows in the genetics of syndromic and non-syndromic hearing loss in the Italian population 114
CDK13-Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management 104
There Is More Than Meets the Eye: Identification of Dual Molecular Diagnosis in Patients Affected by Hearing Loss 100
High prevalence of arterial dissection in patients with Loeys-Dietz syndrome and cerebral aneurysm 84
Increased intracranial arterial tortuosity is associated with worse cardiovascular outcome in patients with Loeys-Dietz syndrome 81
Totale 6.160
Categoria #
all - tutte 15.958
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 15.958


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021200 0 0 0 0 0 0 0 0 0 0 0 200
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
2025/20262.290 234 245 201 218 200 107 207 117 439 191 70 61
Totale 6.160