CINECA IRIS Institutional Research Information System

CARLI, Diana
 Distribuzione geografica
Salva come PNG Salva come JPEG
Continente #
NA - Nord America 633
EU - Europa 483
AS - Asia 182
AF - Africa 23
SA - Sud America 11
OC - Oceania 10
Totale 1.342
Salva come PNG Salva come JPEG
Nazione #
US - Stati Uniti d'America 609
IT - Italia 202
CN - Cina 69
FR - Francia 62
ES - Italia 36
FI - Finlandia 30
GB - Regno Unito 28
DE - Germania 24
VN - Vietnam 24
CA - Canada 20
IN - India 16
TR - Turchia 16
NL - Olanda 15
RU - Federazione Russa 14
HK - Hong Kong 12
CH - Svizzera 11
KE - Kenya 11
PL - Polonia 11
CZ - Repubblica Ceca 10
IE - Irlanda 10
AU - Australia 9
IL - Israele 8
ZA - Sudafrica 8
BR - Brasile 7
ID - Indonesia 7
TW - Taiwan 7
NO - Norvegia 5
GR - Grecia 4
MX - Messico 4
AE - Emirati Arabi Uniti 3
AT - Austria 3
IQ - Iraq 3
IR - Iran 3
JP - Giappone 3
PH - Filippine 3
RO - Romania 3
SE - Svezia 3
AR - Argentina 2
BG - Bulgaria 2
CL - Cile 2
DK - Danimarca 2
HU - Ungheria 2
KR - Corea 2
MA - Marocco 2
TH - Thailandia 2
UA - Ucraina 2
YE - Yemen 2
BE - Belgio 1
EG - Egitto 1
HR - Croazia 1
LK - Sri Lanka 1
LT - Lituania 1
MY - Malesia 1
NG - Nigeria 1
NZ - Nuova Zelanda 1
SI - Slovenia 1
Totale 1.342
Salva come PNG Salva come JPEG
Città #
Fairfield 59
Santa Cruz 44
Seattle 43
Ashburn 41
Torino 41
Houston 37
Turin 28
Ann Arbor 26
Buffalo 24
Cambridge 21
Woodbridge 19
Lappeenranta 18
Wilmington 18
Chicago 16
Dong Ket 16
Barcelona 14
Shenyang 14
Milan 12
Columbus 11
Guangzhou 11
Spongano 11
San Diego 10
Helsinki 9
Istanbul 8
Bologna 7
Los Angeles 7
Madrid 7
Tappahannock 7
Ankara 6
Boardman 6
Brescia 6
Nantes 6
New York 6
Summerville 6
Central 5
Göttingen 5
Oslo 5
Ottawa 5
Paris 5
Rome 5
Salvador 5
Taipei 5
Bengaluru 4
Changsha 4
Florence 4
Lake Forest 4
Mountain View 4
Peterborough 4
Philadelphia 4
Port Elizabeth 4
San Casciano in Val di Pesa 4
Baltimore 3
Beijing 3
Bern 3
Boston 3
Brisbane 3
Dublin 3
Fleming Island 3
Hangzhou 3
Harbin 3
Henderson 3
Jakarta 3
Jerusalem 3
Knoxville 3
Las Vegas 3
Montreal 3
Moscow 3
Muizenberg 3
Naples 3
Riva 3
Rowley Regis 3
San Felice A Cancello 3
San Luis Potosí City 3
Southend 3
St Louis 3
The Dalles 3
Warsaw 3
Xian 3
Alessandria 2
Arbil 2
Aurora 2
Bari 2
Boulder 2
Brasov 2
Cape Coral 2
Carlsbad 2
Caserta 2
Chapel Hill 2
Dallas 2
Dubai 2
Fiumicino 2
Greenwood 2
Hanoi 2
Haverfordwest 2
Hebei 2
Heidelberg 2
Kozhikode 2
Leiden 2
Lishui 2
Lübeck 2
Totale 816
Salva come PNG Salva come JPEG
Nome #
Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes, file e27ce42b-f0f5-2581-e053-d805fe0acbaa 180
Holoprosencephaly: Report of four cases and genotype-phenotype correlations, file e27ce42f-d56f-2581-e053-d805fe0acbaa 153
Lateralized and segmental overgrowth in children, file e27ce434-838d-2581-e053-d805fe0acbaa 112
NBAS pathogenic variants: defining the associated clinical and facial phenotype and genotype-phenotype correlations, file e27ce42e-238b-2581-e053-d805fe0acbaa 90
Longitudinal monitoring of alpha-fetoprotein by dried blood spot for hepatoblastoma screening in beckwith-wiedemann syndrome, file e27ce42e-809a-2581-e053-d805fe0acbaa 87
NBAS pathogenic variants: defining the associated clinical and facial phenotype and genotype-phenotype correlations, file e27ce431-7ebb-2581-e053-d805fe0acbaa 78
Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith–Wiedemann locus, file e27ce42f-72a1-2581-e053-d805fe0acbaa 77
Esophageal duplication cyst in newborn, file e27ce42f-529e-2581-e053-d805fe0acbaa 74
New insights into potocki-shaffer syndrome: Report of two novel cases and literature review, file e27ce430-b04b-2581-e053-d805fe0acbaa 71
Clinical spectrum and follow-up in six individuals with Lamb-Shaffer syndrome (SOX5), file e27ce430-b008-2581-e053-d805fe0acbaa 64
Wilms tumour occurring in a patient with osteopathia striata with cranial sclerosis: A still unsolved biological question, file e27ce432-483f-2581-e053-d805fe0acbaa 62
Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis, file e27ce435-5c41-2581-e053-d805fe0acbaa 56
Patterns of novel alleles and genotype/phenotype correlations resulting from the analysis of 108 previously undetected mutations in patients affected by neurofibromatosis type I, file e27ce430-0f7f-2581-e053-d805fe0acbaa 53
Lateralized overgrowth with vascular malformation caused by a somatic PTPN11 pathogenic variant: Another piece added to the puzzle of mosaic RASopathies, file 4722b218-2248-4d8d-a066-df53efae7364 42
Mek inhibition in a newborn with raf1-associated noonan syndrome ameliorates hypertrophic cardiomyopathy but is insufficient to revert pulmonary vascular disease, file e27ce434-4ab5-2581-e053-d805fe0acbaa 35
Successful treatment with MEK-inhibitor in a patient with NRAS-related cutaneous skeletal hypophosphatemia syndrome, file 0896349a-a018-4638-86d7-8bf5c47ffcac 26
Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients, file e27ce430-8d26-2581-e053-d805fe0acbaa 25
Mapping the human genetic architecture of COVID-19, file e27ce435-0d64-2581-e053-d805fe0acbaa 15
“Thyroid nodular disease and PTEN mutation in a multicentre series of children with PTEN hamartoma tumor syndrome (PHTS)”, file e27ce435-a0d0-2581-e053-d805fe0acbaa 15
Implications of an Underlying Beckwith–Wiedemann Syndrome for Wilms Tumor Treatment Strategies, file 7e8d6114-bf88-4188-a8ef-87eb21e7f33d 10
New insights into potocki-shaffer syndrome: Report of two novel cases and literature review, file e27ce430-b04c-2581-e053-d805fe0acbaa 7
Performance Metrics of the Scoring System for the Diagnosis of the Beckwith–Wiedemann Spectrum (BWSp) and Its Correlation with Cancer Development, file 6c786e45-9770-4f98-b6fd-c8b4855bdfb7 5
Maxillo-Facial Morphology in Beckwith-Wiedemann Syndrome: A Preliminary Study on (epi)Genotype-Phenotype Association in Caucasians, file a76468fc-696e-4156-a31c-a491f40bb2f4 5
Atypical microdeletion 22q11.2 in a patient with tetralogy of Fallot, file e27ce431-c9fa-2581-e053-d805fe0acbaa 4
Psychopathology and Adaptive Functioning in Children, Adolescents, and Young Adults with Noonan Syndrome, file e27ce435-0212-2581-e053-d805fe0acbaa 4
Identification of DNA methylation episignature for the intellectual developmental disorder, autosomal dominant 21 syndrome caused by variants in the CTCF gene, file 53835c36-db10-48fd-96ee-dcface0824b4 3
Assisted Reproductive Techniques and Risk of Beckwith-Wiedemann Syndrome, file e27ce42d-99c1-2581-e053-d805fe0acbaa 3
NBAS pathogenic variants: defining the associated clinical and facial phenotype and genotype-phenotype correlations, file e27ce42e-4616-2581-e053-d805fe0acbaa 3
Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes, file 8cd66dc8-bd98-4828-bb77-5bdd9cbb8467 2
Relevance of next generation sequencing (NGS) data re-analysis in the diagnosis of monogenic diseases leading to organ failure, file bb50c7dd-6c49-4866-8b0d-b799478a2a8e 2
Defining an optimal time window to screen for hepatoblastoma in children with Beckwith-Wiedemann syndrome, file e27ce42d-99bd-2581-e053-d805fe0acbaa 2
NBAS pathogenic variants: defining the associated clinical and facial phenotype and genotype-phenotype correlations, file e27ce42e-4617-2581-e053-d805fe0acbaa 2
Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis, file e27ce434-aeb3-2581-e053-d805fe0acbaa 2
Mulibrey nanism and immunological complications: a comprehensive case report and literature review, file 41c729a3-5949-4fee-b8bc-9fb642a4ffa7 1
Overexpression of INSM1, NOTCH1, NEUROD1, and YAP1 genes is associated with adverse clinical outcome in pediatric neuroblastoma, file 886a661c-b0e2-4cf9-b8a9-41a626a5a92a 1
Assisted reproduction techniques and prenatal diagnosis of Beckwith-Wiedemann spectrum presenting with omphalocele, file e27ce42d-b627-2581-e053-d805fe0acbaa 1
Phenotype evolution and health issues of adults with Beckwith-Wiedemann syndrome, file e27ce432-6076-2581-e053-d805fe0acbaa 1
“Thyroid nodular disease and PTEN mutation in a multicentre series of children with PTEN hamartoma tumor syndrome (PHTS)”, file e27ce432-7166-2581-e053-d805fe0acbaa 1
Correspondence on “Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities,” by Carmignac et al, file e27ce434-af33-2581-e053-d805fe0acbaa 1
Totale 1.375
Salva come PNG Salva come JPEG
Categoria #
all - tutte 2.891
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 2.891
Salva come PNG Salva come JPEG


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/20193 0 0 0 0 0 0 0 0 0 0 0 3
2019/2020101 8 4 5 11 3 6 10 9 16 10 4 15
2020/2021319 10 25 24 8 34 43 25 26 37 28 22 37
2021/2022315 16 28 16 39 37 11 12 23 17 27 55 34
2022/2023410 8 19 62 58 32 26 75 40 43 14 21 12
2023/2024219 18 6 17 22 13 20 27 31 10 30 25 0
Totale 1.375