PESCUCCI, CHIARA
 Distribuzione geografica
Salva come PNG Salva come JPEG
Continente #
AS - Asia 215
NA - Nord America 178
EU - Europa 77
SA - Sud America 14
AF - Africa 6
OC - Oceania 1
Totale 491
Salva come PNG Salva come JPEG
Nazione #
US - Stati Uniti d'America 171
CN - Cina 72
SG - Singapore 51
JP - Giappone 37
IT - Italia 35
RU - Federazione Russa 20
HK - Hong Kong 13
BD - Bangladesh 11
BR - Brasile 10
VN - Vietnam 10
ES - Italia 9
CA - Canada 4
IN - India 4
DE - Germania 3
AE - Emirati Arabi Uniti 2
AT - Austria 2
FR - Francia 2
KR - Corea 2
MA - Marocco 2
TR - Turchia 2
UA - Ucraina 2
UZ - Uzbekistan 2
AR - Argentina 1
AU - Australia 1
BY - Bielorussia 1
CO - Colombia 1
CR - Costa Rica 1
DO - Repubblica Dominicana 1
EC - Ecuador 1
EG - Egitto 1
FI - Finlandia 1
GB - Regno Unito 1
GE - Georgia 1
ID - Indonesia 1
IL - Israele 1
IQ - Iraq 1
JO - Giordania 1
KZ - Kazakistan 1
MX - Messico 1
MY - Malesia 1
NG - Nigeria 1
PE - Perù 1
PK - Pakistan 1
SK - Slovacchia (Repubblica Slovacca) 1
TN - Tunisia 1
TW - Taiwan 1
ZA - Sudafrica 1
Totale 491
Salva come PNG Salva come JPEG
Città #
Singapore 46
Ashburn 39
Tokyo 37
Council Bluffs 35
Santa Clara 29
Beijing 13
Hong Kong 12
New York 10
San Jose 8
Barcelona 7
Boardman 5
Los Angeles 5
Messina 4
Florence 3
Kent 3
Padua 3
Rome 3
São Paulo 3
Tropea 3
Bragança Paulista 2
Brooklyn 2
Buffalo 2
Can Tho 2
Catania 2
Dortmund 2
Hanoi 2
Ho Chi Minh City 2
Ludhiana 2
Miano 2
Milan 2
Ningbo 2
Rabat 2
Seoul 2
Shanghai 2
Tashkent 2
Toronto 2
Abuja 1
Abū Qurqāş 1
Akaa 1
Al Ain City 1
Amman 1
Andau 1
Auburn 1
Baghdad 1
Bandung 1
Bathinda 1
Beaverton 1
Borovlyany 1
Brisbane 1
Brookline 1
Buenos Aires 1
Byron 1
Bétera 1
Campo Novo do Parecis 1
Cayetano Germosén 1
Charlotte 1
Chennai 1
Chongqing 1
Cleveland 1
Colchester 1
Cuenca 1
Da Nang 1
Dallas 1
Davenport 1
Dunajov 1
Goiânia 1
Haiphong 1
Houston 1
Hyde Park 1
Hưng Yên 1
Itapira 1
Johannesburg 1
Kirkland Lake 1
Kostanay 1
Lahore 1
Langfang 1
Lecce 1
Lucca 1
Mexico City 1
Morcone 1
Moscow 1
Nanjing 1
Naples 1
Netanya 1
North York 1
Novodnistrovsk 1
Oakland 1
Oklahoma City 1
Palestrina 1
Paris 1
Phoenix 1
Puchong 1
Riva presso Chieri 1
Riverdale 1
San Isidro 1
San José 1
Santana da Vargem 1
Shenzhen 1
Tai Wai 1
Taipei 1
Totale 366
Salva come PNG Salva come JPEG
Nome #
Thin and thick primary cutaneous melanomas reveal distinct patterns of somatic copy number alterations 109
Characterization of copy number variants in hereditary cancer patients through NGS shows a distinctive PALB2 contribution to the diagnostic yield 46
A 2.6 Mb deletion of 6q24.3-25.1 in a patient with growth failure, cardiac septal defect, thin upperlip and asymmetric dysmorphic ears 25
Molecular dissection using array comparative genomic hybridization and clinical evaluation of an infertile male carrier of an unbalanced Y;21 traslocation: A case report and rewiew of the literature 23
2q24-q31 deletion: report of a case and review of the literature 18
Is Rett syndrome a loss-of-imprinting disorder? 17
CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome 17
Positive predictive values and outcomes for uninformative cell‐free DNA tests: An Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO study) 13
16p11.2 de novo microdeletion encompassing SRCAP gene in a patient with speech impairment, global developmental delay and behavioural problems 11
2q24-q31 deletion: report of a case and review of the literature 11
Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: Report of one case of MECP2 deletion and one case of MECP2 duplication 11
Germline mosaicism in Rett syndrome identified by prenatal diagnosis 11
A 2.6 Mb deletion of 6q24.3-25.1 in a patient with growth failure, cardiac septal defect, thin upperlip and asymmetric dysmorphic ears 11
Validation of a method for noninvasive prenatal testing for fetal aneuploidies risk and considerations for its introduction in the Public Health System 10
An additional case of cerebrofaciothoracic dysplasia associated with Chiari type I malformation 10
Clinical and molecular characterization of a patient with a 2q31.2-32.3 deletion identified by array-CGH 10
Clinical and molecular characterization of Italian patients affected by Cohen syndrome 10
Optineurin gene is not involved in the common high-tension form of primary open-angle glaucoma 10
Non-syndromic X-linked mental retardation: from a molecular to a clinical point of view 10
Association between primary open-angle glaucoma (POAG) and WDR36 sequence variance in Italian families affected by POAG 10
Italian Rett database and biobank 9
Rett syndrome: the complex nature of a monogenic disease 9
Chromosome 2 deletion encompassing the MAP2 gene in a patient with autism and Rett-like features 9
Chromosomal alterations detected by comparative genomic hybridization in nonfunctioning endocrine pancreatic tumors 9
Isolation of fetal cells from the maternal circulation: prospects for the non-invasive prenatal diagnosis 9
Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of five families 9
CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms 9
Molecular Dissection Using Array Comparative Genomic Hybridization and Clinical Evaluation of An Infertile Male Carrier of An Unbalanced Y;21 Translocation: A Case Report and Review of The Literature 8
Easy genotyping of complement C3 'slow' and 'fast' allotypes by tetra-primer amplification refractory mutation system PCR 8
Autosomal-dominant Alport syndrome: natural history of a disease due to COL4A3 or COL4A4 gene 8
CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome 8
A third MRX family (MRX68) is the result of mutation in the long chain fatty acid-CoA ligase 4 (FACL4) gene: proposal of a rapid enzymatic assay for screening mentally retarded patients 8
CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome 7
Quality assessment in cytogenetic and molecular genetic testing: the experience of the Italian Project on Standardisation and Quality Assurance 7
Germline mosaicism in Rett syndrome identified by prenatal diagnosis 7
Three Rett patients with both MECP2 mutation and 15q11-13 rearrangements 6
Retinoblastoma and mental retardation microdeletion syndrome: clinical characterization and molecular dissection using array CGH 6
Totale 529
Salva come PNG Salva come JPEG
Categoria #
all - tutte 2.019
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 2.019
Salva come PNG Salva come JPEG


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2023/20245 0 0 0 0 0 0 0 0 1 0 4 0
2024/202559 2 8 4 8 20 8 0 1 3 2 2 1
2025/2026465 5 6 1 3 38 11 8 87 141 103 36 26
Totale 529