RESTA, Nicoletta
 Distribuzione geografica
Continente #
NA - Nord America 702
EU - Europa 128
AS - Asia 54
AF - Africa 10
OC - Oceania 3
SA - Sud America 2
Totale 899
Nazione #
US - Stati Uniti d'America 700
IT - Italia 92
VN - Vietnam 35
DE - Germania 10
CN - Cina 8
CZ - Repubblica Ceca 7
RU - Federazione Russa 7
ZA - Sudafrica 7
JP - Giappone 4
AU - Australia 3
IN - India 3
NG - Nigeria 3
AT - Austria 2
CA - Canada 2
CL - Cile 2
ES - Italia 2
FR - Francia 2
GB - Regno Unito 2
HK - Hong Kong 2
SE - Svezia 2
GR - Grecia 1
JO - Giordania 1
TR - Turchia 1
UA - Ucraina 1
Totale 899
Città #
Fairfield 77
Dong Ket 34
Bari 33
Ashburn 32
Woodbridge 32
Buffalo 30
Seattle 29
Houston 28
Cambridge 17
Wilmington 16
Davoli 15
Fleming Island 13
Altamura 10
Chicago 8
Mottola 7
Nuremberg 7
Muizenberg 6
San Diego 6
Ann Arbor 5
Las Vegas 4
Lecce 4
Los Angeles 4
Providence 4
San Francisco 4
Taranto 4
Abuja 3
Bloomfield 3
Melbourne 3
Milan 3
Mumbai 3
New York 3
Portland 3
Provo 3
San Jose 3
Washington 3
Central 2
Dallas 2
Denver 2
Henderson 2
Herndon 2
Jacksonville 2
Madrid 2
Nagoya 2
Otemae 2
Sesto San Giovanni 2
Stockholm 2
Toronto 2
Amman 1
Austin 1
Bedford 1
Bellevue 1
Büdelsdorf 1
Chandler 1
Clearwater 1
Collegno 1
Columbus 1
Council Bluffs 1
Crugers 1
Ho Chi Minh City 1
Istanbul 1
Kirkland 1
Lake Forest 1
Limburg an der Lahn 1
Lincoln 1
Lombard 1
Modugno 1
Naples 1
Palo Alto 1
Paris 1
Phoenix 1
Putignano 1
Reston 1
Rochester 1
Salerno 1
Salt Lake City 1
San Pietro a Maida 1
Santa Clara 1
Scottsdale 1
Silverton 1
Stanford 1
Uckfield 1
West Chicago 1
Totale 518
Nome #
Gastric polyposis and desmoid tumours as a new familial adenomatous polyposis clinical variant associated with APC mutation at the extreme 3′-end, file dd9e0c66-083e-1e9c-e053-3a05fe0a45ef 60
COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency, file dd9e0c63-ca26-1e9c-e053-3a05fe0a45ef 56
Molecular and Functional Characterization of Three Different Postzygotic Mutations in PIK3CA-Related Overgrowth Spectrum (PROS) Patients: Effects on PI3K/AKT/mTOR Signaling and Sensitivity to PIK3 Inhibitors, file dd9e0c64-895e-1e9c-e053-3a05fe0a45ef 54
TARGETED NEXT-GENERATION SEQUENCING ANALYSIS OF 1,000 INDIVIDUALS WITH INTELLECTUAL DISABILITY, file dd9e0c63-cf01-1e9c-e053-3a05fe0a45ef 53
The Role of Oxidative Stress in the Pathomechanism of Congenital Malformations, file dd9e0c68-0193-1e9c-e053-3a05fe0a45ef 50
Familly with two different cases of post- and pre-natal L1 syndrome; When hydrocephaly become "multidisciplinary headache", file dd9e0c6a-88d6-1e9c-e053-3a05fe0a45ef 49
Parallelism of DOG1 expression with recurrence risk in gastrointestinal stromal tumors bearing KIT or PDGFRA mutations, file dd9e0c64-5032-1e9c-e053-3a05fe0a45ef 46
In vitro efficacy of ARQ 092, an allosteric AKT inhibitor, on primary fibroblast cells derived from patients with PIK3CA-related overgrowth spectrum (PROS), file dd9e0c6a-77b1-1e9c-e053-3a05fe0a45ef 45
The longevity SNP rs2802292 uncovered: HSF1 activates stress-dependent expression of FOXO3 through an intronic enhancer., file dd9e0c65-3ec1-1e9c-e053-3a05fe0a45ef 44
Accurate classification of NF1 gene variants in 84 Italian patients with neurofibromatosis type 1, file dd9e0c65-6e98-1e9c-e053-3a05fe0a45ef 44
DP71 and SERCA2 alteration in human neurons of a Duchenne muscular dystrophy patient, file dd9e0c65-a016-1e9c-e053-3a05fe0a45ef 44
Influence of polymorphisms of DNA repair and GST genes on genotoxic damage and mutagen sensitivity in workers occupationally exposed to very low doses of ionizing radiation, file dd9e0c67-816a-1e9c-e053-3a05fe0a45ef 43
Novel scn5a p.W697x nonsense mutation segregation in a family with brugada syndrome, file dd9e0c6a-b009-1e9c-e053-3a05fe0a45ef 43
Primary melanoma of the testis: myth, file dd9e0c65-4248-1e9c-e053-3a05fe0a45ef 42
Loss of STK11 expression is an early event in prostate carcinogenesis and predicts therapeutic response to targeted therapy against MAPK/p38., file dd9e0c64-f913-1e9c-e053-3a05fe0a45ef 41
null, file dd9e0c67-fe61-1e9c-e053-3a05fe0a45ef 36
Stat3-positive tumor cells contribute to vessels neoformation in primary central nervous system lymphoma, file dd9e0c64-1519-1e9c-e053-3a05fe0a45ef 34
BRCAmut and "founder effect": A prospective study in a single academic institution, file dd9e0c65-4dc1-1e9c-e053-3a05fe0a45ef 34
Germline pathogenic variant in PIK3CA leading to symmetrical overgrowth with marked macrocephaly and mild global developmental delay, file dd9e0c65-d373-1e9c-e053-3a05fe0a45ef 24
De novo unbalanced translocation leading to monosomy 9p24.3p24.1 and trisomy 19q13.42q13.43 characterized by microarray-based comparative genomic hybridization in a child with partial cortical dysplasia and craniofacial dysmorphisms without trigonocephaly., file dd9e0c63-1555-1e9c-e053-3a05fe0a45ef 16
DHPLC-based mutation analysis of ENG and ALK-1 genes in HHT Italian population, file dd9e0c64-e209-1e9c-e053-3a05fe0a45ef 13
Clinical and functional characterization of a novel mutation in lamin a/C gene in a multigenerational family with arrhythmogenic cardiac laminopathy, file dd9e0c6c-1556-1e9c-e053-3a05fe0a45ef 11
Cardiac and neuromuscular features of patients with LMNA-related cardiomyopathy, file dd9e0c67-0e17-1e9c-e053-3a05fe0a45ef 6
Functional evidence of mTORβ splice variant involvement in the pathogenesis of congenital heart defects, file dd9e0c6a-aa29-1e9c-e053-3a05fe0a45ef 6
A Rare Case of Severe Congenital RYR1-Associated Myopathy, file 7ddb1107-8321-4dd5-bb7c-529ed0a9a297 5
In silico and in vivo analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects, file dd9e0c66-8065-1e9c-e053-3a05fe0a45ef 4
A long diagnostic delay in patients with Hereditary Haemorrhagic Telangiectasia: A questionnaire-based retrospective study, file dd9e0c64-e9aa-1e9c-e053-3a05fe0a45ef 3
RUOLO DELLA SUSCETTIBILITÀ GENETICA NELL’INSORGENZA DEL MESOTELIOMA MALIGNO: NUOVE PROSPETTIVE, file dd9e0c66-3e88-1e9c-e053-3a05fe0a45ef 2
null, file dd9e0c66-6195-1e9c-e053-3a05fe0a45ef 2
Association of autoimmune thyroiditis and celiac disease with Juvenile Polyposis due to 10q23.1q23.31 deletion: Potential role of PI3K/Akt pathway dysregulation, file dd9e0c66-de94-1e9c-e053-3a05fe0a45ef 2
Microcephaly-Capillary Malformation Syndrome, file dd9e0c6a-6851-1e9c-e053-3a05fe0a45ef 2
Megalencephaly Capillary Malformation Syndrome, file dd9e0c6a-8323-1e9c-e053-3a05fe0a45ef 2
null, file dd9e0c63-3f03-1e9c-e053-3a05fe0a45ef 1
The recurrent SETBP1 c.2608G > A, p.(Gly870Ser) variant in a patient with Schinzel-Giedion syndrome: an illustrative case of the utility of whole exome sequencing in a critically ill neonate, file dd9e0c68-7cd5-1e9c-e053-3a05fe0a45ef 1
Two novel cases of compound heterozygous mutations in mitofusin2: Finding out the inheritance, file dd9e0c6a-5ac5-1e9c-e053-3a05fe0a45ef 1
First evidence of a therapeutic effect of miransertib in a teenager with Proteus syndrome and ovarian carcinoma, file dd9e0c6a-607d-1e9c-e053-3a05fe0a45ef 1
Limb hypertrophy: A skin vascular malformation and bilateral hydroureteronephrosis in a neonate, file dd9e0c6a-684f-1e9c-e053-3a05fe0a45ef 1
Old treatments for new genetic conditions: Sirolimus therapy in a child affected by mosaic overgrowth with fibroadipose hyperplasia, file dd9e0c6a-7cfd-1e9c-e053-3a05fe0a45ef 1
Gait disturbance and lower limb pain in a patient with PIK3CA-related disorder, file dd9e0c6a-b284-1e9c-e053-3a05fe0a45ef 1
The DOG1 scoring system in GIST: a novel factor for measurement of the recurrence risk, file dd9e0c6a-fa85-1e9c-e053-3a05fe0a45ef 1
636 Genotoxic damage and dna repair gene polymorphisms in workers exposed to low doses of ionising radiation, file dd9e0c6b-1e73-1e9c-e053-3a05fe0a45ef 1
Spectrum of germline pathogenic variants in brca1/2 genes in the apulian southern italy population: Geographic distribution and evidence for targeted genetic testing, file dd9e0c6b-65f7-1e9c-e053-3a05fe0a45ef 1
Correspondence on “Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities,” by Carmignac et al, file dd9e0c6b-8bf2-1e9c-e053-3a05fe0a45ef 1
Totale 927
Categoria #
all - tutte 2021
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 2021


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2017/20181 0000 00 00 0010
2018/20192 0011 00 00 0000
2019/20208 0000 00 01 0610
2020/2021263 0001 23 4242 21623555
2021/2022336 11151416 2316 1817 123310952
2022/2023313 211113168 1726 381 0000
Totale 927