IRIS Institutional Research Information System - AIR Archivio Istituzionale della Ricerca

RUSCONI, DANIELA
 Distribuzione geografica
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Continente #
EU - Europa 1791
NA - Nord America 919
AS - Asia 314
SA - Sud America 17
Continente sconosciuto - Info sul continente non disponibili 3
OC - Oceania 2
AF - Africa 1
Totale 3047
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Nazione #
GB - Regno Unito 961
US - Stati Uniti d'America 877
IT - Italia 309
CN - Cina 219
DE - Germania 182
SE - Svezia 115
UA - Ucraina 43
CA - Canada 41
RU - Federazione Russa 40
DK - Danimarca 34
KR - Corea 29
FR - Francia 27
FI - Finlandia 26
IN - India 24
TR - Turchia 21
NL - Olanda 20
EU - Europa 15
BE - Belgio 11
CO - Colombia 8
PL - Polonia 7
JP - Giappone 6
GR - Grecia 5
BR - Brasile 4
HK - Hong Kong 3
PE - Perù 3
UZ - Uzbekistan 3
AU - Australia 2
CL - Cile 2
ES - Italia 2
IR - Iran 2
MY - Malesia 2
NO - Norvegia 2
RO - Romania 2
TW - Taiwan 2
BY - Bielorussia 1
CH - Svizzera 1
CZ - Repubblica Ceca 1
EG - Egitto 1
HU - Ungheria 1
KZ - Kazakistan 1
LT - Lituania 1
MX - Messico 1
SG - Singapore 1
VN - Vietnam 1
Totale 3059
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Città #
Southend 881
Milan 81
Fairfield 80
Wilmington 78
Chandler 74
Ann Arbor 68
Seattle 66
Princeton 50
Dearborn 44
Ashburn 43
Woodbridge 43
Beijing 42
Houston 32
Mountain View 31
Toronto 31
Cambridge 23
Jacksonville 23
Nanjing 22
Kiez 21
Serra 20
Guangzhou 19
Hangzhou 19
Jinan 19
Des Moines 17
Redmond 16
Falls Church 15
Rome 13
Sakarya 9
Shenyang 9
Fremont 8
Ottawa 8
San Diego 8
Andover 7
Changsha 7
Hebei 7
Jiaxing 7
Phoenix 7
Bogotá 6
Brescia 6
Grafing 6
Lanzhou 6
Medford 6
Nürnberg 6
Redwood City 6
Waanrode 6
Aprilia 5
Athens 5
Brussels 5
Chicago 5
Fuzhou 5
Taizhou 5
Warsaw 5
Kunming 4
Ningbo 4
Renton 4
Somerville 4
Auburn Hills 3
Berlin 3
Florence 3
Haikou 3
Hefei 3
Lima 3
Mumbai 3
New York 3
Norwalk 3
Palaiseau 3
Roxbury 3
Shanghai 3
Taiyuan 3
Tianjin 3
Zhengzhou 3
Arcevia 2
Bra 2
Cagliari 2
Caserta 2
Frankfurt am Main 2
Karaj 2
Kuala Lumpur 2
Melbourne 2
Miami 2
Mogliano Veneto 2
Munich 2
Noginsk 2
Palermo 2
Pavia 2
Pordenone 2
Siena 2
Silver Spring 2
Taipei 2
Takajomachi 2
Xian 2
Almaty 1
Anchorage 1
Arganda 1
Atlanta 1
Augusta 1
Austin 1
Bari 1
Bethesda 1
Bitonto 1
Totale 2141
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Nome #
Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome 198
Combined characterization of a pituitary adenoma and a subcutaneous lipoma in a MEN1 patient with a whole gene deletion 188
NSD1 intragenic deletion in a patient with Sotos/5q subtelomeric deletion syndrome combined phenotype without 5q35.3 deletion 179
NUOVE MUTAZIONI PUNTIFORMI E DELEZIONI ESONICHE DEL GENE EP300 IN PAZIENTI CON SINDROME DI RUBINSTEIN-TAYBI 177
From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients : New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks 172
Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene 170
Juxtaposition of heterochromatic and euchromatic regions by chromosomal translocation mediates a heterochromatic long-range position effect associated with a severe neurological phenotype 169
Nuova delezione intragenica in NSD1 in un paziente che presenta fenotipo composto Sotos/delezione subtelomerica 5q 150
Familial intragenic duplication of ANKRD11 underlying three patients of KBG syndrome 144
Erythroid differentiation and maturation from peripheral CD34+ cells in liquid culture : cellular and molecular characterization 139
DELEZIONI IN 16p13.2 COINVOLGENTI TOTALMENTE O PARZIALMENTE IL GENE CREBBP IN PAZIENTI CON SINDROME DI RUBINSTEIN-TAYBI 139
Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome : an update of the CREBBP deletion repertoire 134
SNPs and real-time quantitative PCR method for constitutional allelic copy number determination, the VPREB1 marker case 132
Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi Syndrome patients 129
Oligoclonal bands in the cerebrospinal fluid of amyotrophic lateral sclerosis patients with disease-associated mutations 121
Design and validation of a pericentromeric BAC clone set aimed at improving diagnosis and phenotype prediction of supernumerary marker chromosomes 119
APPROCCI TECNOLOGICI MULTIPLI PER L'IDENTIFICAZIONE DI MUTAZIONI E MECCANISMI PATOGENETICI IN PAZIENTI CON SINDROME DI RUBINSTEIN-TAYBI 117
A novel mosaic NSD1 intragenic deletion in a patient with an atypical phenotype 115
Identification of balanced 4p16 paracentric inversions in three patients with Wolf-Hirschhorn phenotype not deleted for the WHS critical region 112
AHSP (Alpha Hemoglobin Stabilizing Protein) Gene Expression during Normal and ß-Thalassemic Erythroid Differentiation 111
Sindrome di Cornelia de Lange in un paziente portatore della Traslocazione t(5;15)(p13;q25.1): possibile effetto di posizione su NIPBL 107
NEW POINTMUTATIONS AND EXON DELETIONS OF THE EP300 GENE IN PATIENTS WITH RUBINSTEIN-TAYBI SYNDROME 104
Complex de novo chromosomal rearrangement at 15q11-q13 involving an intrachromosomal triplication in a patient with a severe neuropsychological phenotype: Clinical report and review of the literature. 80
Gene dosage as a relevant mechanism contributing to the determination of ovarian function in Turner syndrome 70
Totale 3276
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Categoria #
all - tutte 3833
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 3833
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2017/2018349 0203739 2342 2722 18227029
2018/2019475 77463142 1854 3117 33315342
2019/2020603 78342159 4947 7342 83623025
2020/2021459 50292820 5038 2633 54466916
2021/2022394 41101811 4314 2011 614420101
2022/2023142 895300 00 00 0000
Totale 3276