CRIS Current Research Information System

GRAZIANO, CLAUDIO
 Distribuzione geografica
Salva come PNG Salva come JPEG
Continente #
NA - Nord America 1.432
EU - Europa 957
AS - Asia 350
AF - Africa 71
SA - Sud America 16
OC - Oceania 2
Continente sconosciuto - Info sul continente non disponibili 1
Totale 2.829
Salva come PNG Salva come JPEG
Nazione #
US - Stati Uniti d'America 1.425
GB - Regno Unito 255
IT - Italia 194
VN - Vietnam 141
SE - Svezia 138
CN - Cina 130
DE - Germania 120
IN - India 50
IE - Irlanda 49
RU - Federazione Russa 45
FR - Francia 39
UA - Ucraina 36
TG - Togo 28
BG - Bulgaria 21
ZA - Sudafrica 19
EE - Estonia 15
BR - Brasile 14
CI - Costa d'Avorio 13
JO - Giordania 12
CH - Svizzera 11
FI - Finlandia 8
BE - Belgio 7
CA - Canada 7
NG - Nigeria 6
RO - Romania 4
IR - Iran 3
NL - Olanda 3
CL - Cile 2
GR - Grecia 2
HK - Hong Kong 2
IL - Israele 2
MA - Marocco 2
MY - Malesia 2
PL - Polonia 2
SC - Seychelles 2
AE - Emirati Arabi Uniti 1
AL - Albania 1
AT - Austria 1
AU - Australia 1
BD - Bangladesh 1
CZ - Repubblica Ceca 1
DK - Danimarca 1
EG - Egitto 1
ES - Italia 1
EU - Europa 1
HR - Croazia 1
KR - Corea 1
NZ - Nuova Zelanda 1
PH - Filippine 1
PT - Portogallo 1
SA - Arabia Saudita 1
SG - Singapore 1
SI - Slovenia 1
TR - Turchia 1
UZ - Uzbekistan 1
Totale 2.829
Salva come PNG Salva come JPEG
Città #
Southend 227
Fairfield 205
Chandler 141
Woodbridge 121
Seattle 95
Ashburn 92
Wilmington 82
Houston 76
Cambridge 75
Dong Ket 73
Ann Arbor 60
Princeton 60
Dublin 49
Bologna 31
Nanjing 29
Lomé 28
Westminster 24
Turin 23
Jacksonville 22
Sofia 21
Berlin 19
Dearborn 16
Florence 16
Padova 16
New York 14
Saint Petersburg 14
San Diego 14
Abidjan 13
Jinan 13
Amman 12
Changsha 10
Hebei 10
Redmond 9
Helsinki 8
Milan 8
Nanchang 8
Shenyang 8
Bern 7
Brussels 7
Mülheim 7
Redwood City 7
Boydton 6
Des Moines 6
Frankfurt Am Main 6
Los Angeles 6
Abeokuta 5
Beijing 5
São Paulo 5
Tianjin 5
Zhengzhou 5
Bremen 4
Haikou 4
Medford 4
Phoenix 4
Toronto 4
Boardman 3
Brescia 3
Hangzhou 3
Jiaxing 3
Kuban 3
London 3
Loreto Aprutino 3
Mountain View 3
Parma 3
San Venanzo 3
Taiyuan 3
Cesena 2
Edinburgh 2
Falls Church 2
Ferrara 2
Guangzhou 2
Hong Kong 2
Inverigo 2
Kilburn 2
Kingston upon Thames 2
Kuala Lumpur 2
Lanzhou 2
Mahé 2
Napoli 2
Ningbo 2
Norwalk 2
Olalla 2
Rabat 2
Ravenna 2
Rome 2
Rostock 2
Salisbury 2
Taizhou 2
Tappahannock 2
Wuhan 2
Amsterdam 1
Andover 1
Ardabil 1
Auckland 1
Boston 1
Brooklyn 1
Buffalo 1
Bühl 1
Clearwater 1
Comezzano 1
Totale 1.930
Salva come PNG Salva come JPEG
Nome #
Association of hereditary thrombocythemia and distal limb defects with a thrombopoietin gene mutation. 177
9q31.1q31.3 deletion in two patients with similar clinical features: a newly recognized microdeletion syndrome? 168
Challenges in the clinical interpretation of small de novo copy number variants in neurodevelopmental disorders 155
Genetics of human enteric neuropathies. 148
Maternally inherited genetic variants of CADPS2 are present in Autism Spectrum Disorders and Intellectual Disability patients. 136
A de novo PUF60 mutation in a child with a syndromic form of coloboma and persistent fetal vasculature 130
Cytogenetic and molecular characterization of a recombinant X chromosome in a family with a severe neurologic phenotype and macular degeneration 127
FA2H-related disorders: a novel c.270+3A>T splice-site mutation leads to a complex neurodegenerative phenotype. 124
Novel Mutations in Neurogenic Chronic Intestinal Pseudo-Obstruction Identified by High-Throughput Sequencing 124
Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts 120
Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study 118
Aortic arch geometry predicts outcome in patients with Loeys–Dietz syndrome independent of the causative gene 117
An additional family with association of hereditary thrombocytosis and transverse limb deficiency: confirmation of a rare clinical spectrum. 115
Two novel PRNP truncating mutations broaden the spectrum of prion amyloidosis 113
Mutations in RAD21 Disrupt Regulation of APOB in Patients With Chronic Intestinal Pseudo-Obstruction. 112
Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes 111
New patients with Temple syndrome caused by 14q32 deletion: Genotype-phenotype correlations and risk of thyroid cancer 109
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 88
Two distinct thyroid tumours in a Cowden Syndrome patient carrying both a 10q23 and a mitochondrial DNA germline deletion 84
Su2019 Functional Characterization of a Novel RAD21 Mutation in Familial Chronic Intestinal Pseudo-Obstruction (CIPO) 81
Fanconi-Bickel syndrome: a mild form associated with GLUT2 mutation 76
Test genetici e consenso informato 70
Kidney transplant in fabry disease: A revision of the literature 70
Functional Analysis of Missense Mutations of OAT, Causing Gyrate Atrophy of Choroid and Retina. 69
A regional audit system for stillbirth: A way to better understand the phenomenon 59
Preferences of Italian patients for return of secondary findings from clinical genome/exome sequencing 48
Lights and shadows in the genetics of syndromic and non-syndromic hearing loss in the Italian population 43
HDAC9 structural variants disrupting TWIST1 transcriptional regulation lead to craniofacial and limb malformations 27
Increased intracranial arterial tortuosity is associated with worse cardiovascular outcome in patients with Loeys-Dietz syndrome 15
MAYO AND PRO-PKD SCORE CONCORDANCE FOR PROGRESSION OF RENAL FALIURE EVALUATION IN ADPKD PATIENTS 14
High prevalence of arterial dissection in patients with Loeys-Dietz syndrome and cerebral aneurysm 14
Clinical interpretation of aCGH results in patients with neurodevelopmental disorders by geneticists: impact on diagnostic yield 1
Totale 2.963
Salva come PNG Salva come JPEG
Categoria #
all - tutte 7.155
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 7.155
Salva come PNG Salva come JPEG


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/201938 0 0 0 0 0 0 0 0 0 0 20 18
2019/2020804 103 20 11 46 82 86 105 122 111 56 15 47
2020/2021513 74 53 18 5 12 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
2023/2024156 14 32 13 11 15 45 8 8 3 7 0 0
Totale 2.963