IRIS UniCatt

Orteschi, Daniela
 Distribuzione geografica
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Continente #
NA - Nord America 2.074
EU - Europa 2.064
AS - Asia 1.114
SA - Sud America 212
AF - Africa 34
OC - Oceania 4
Totale 5.502
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Nazione #
US - Stati Uniti d'America 2.029
DE - Germania 769
SG - Singapore 501
CN - Cina 352
PL - Polonia 295
SE - Svezia 250
UA - Ucraina 183
IT - Italia 180
BR - Brasile 173
FR - Francia 110
GB - Regno Unito 65
IE - Irlanda 65
VN - Vietnam 53
FI - Finlandia 49
ID - Indonesia 39
IN - India 36
RU - Federazione Russa 32
JP - Giappone 23
TR - Turchia 23
CA - Canada 22
NL - Olanda 18
BD - Bangladesh 15
AR - Argentina 14
BE - Belgio 13
MX - Messico 12
HK - Hong Kong 11
IR - Iran 11
ZA - Sudafrica 11
AT - Austria 9
PK - Pakistan 8
ES - Italia 7
IQ - Iraq 6
KE - Kenya 6
KZ - Kazakistan 6
SA - Arabia Saudita 6
CO - Colombia 5
EG - Egitto 5
UY - Uruguay 5
CL - Cile 4
EC - Ecuador 4
UZ - Uzbekistan 4
BZ - Belize 3
CI - Costa d'Avorio 3
LT - Lituania 3
MT - Malta 3
PE - Perù 3
TT - Trinidad e Tobago 3
AZ - Azerbaigian 2
BY - Bielorussia 2
CH - Svizzera 2
CY - Cipro 2
CZ - Repubblica Ceca 2
IL - Israele 2
KG - Kirghizistan 2
KW - Kuwait 2
MA - Marocco 2
NZ - Nuova Zelanda 2
PY - Paraguay 2
VE - Venezuela 2
AL - Albania 1
AM - Armenia 1
AO - Angola 1
AU - Australia 1
BB - Barbados 1
DO - Repubblica Dominicana 1
DZ - Algeria 1
ET - Etiopia 1
GA - Gabon 1
GR - Grecia 1
HN - Honduras 1
HU - Ungheria 1
IS - Islanda 1
JO - Giordania 1
KR - Corea 1
LA - Repubblica Popolare Democratica del Laos 1
LK - Sri Lanka 1
LV - Lettonia 1
ML - Mali 1
MQ - Martinica 1
MY - Malesia 1
NG - Nigeria 1
NP - Nepal 1
OM - Oman 1
PA - Panama 1
PG - Papua Nuova Guinea 1
PH - Filippine 1
RO - Romania 1
RS - Serbia 1
TH - Thailandia 1
TN - Tunisia 1
Totale 5.502
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Città #
Chandler 348
Warsaw 283
Singapore 191
Ashburn 184
Jacksonville 101
San Mateo 83
New York 70
Nanjing 67
Dublin 63
Wilmington 63
Cattolica 58
Woodbridge 55
Ann Arbor 54
Los Angeles 54
Beijing 53
Fairfield 50
Houston 50
Nürnberg 49
Redmond 45
Jakarta 38
Dearborn 37
Munich 34
Seattle 31
Lawrence 28
Boston 26
Marseille 26
Milan 24
Redwood City 24
Nanchang 23
São Paulo 23
Frankfurt am Main 22
Moscow 21
Hangzhou 20
Cambridge 19
Hefei 18
Buffalo 17
Izmir 17
Lancaster 16
Norwalk 16
Rome 16
Fremont 15
Tokyo 15
Elkhart 14
Ho Chi Minh City 14
Boardman 13
Bremen 13
Mountain View 13
Changsha 11
Dallas 11
Helsinki 11
Hong Kong 10
Kunming 10
University Park 10
Hanoi 9
Jiaxing 9
Phoenix 9
Princeton 9
Shenyang 9
Tianjin 9
Atlanta 8
Cincinnati 8
Stockholm 8
Brasília 7
Brussels 7
Hebei 7
Leawood 7
San Diego 7
San Jose 7
Toronto 7
Ardabil 6
Brooklyn 6
Chennai 6
Denver 6
Düsseldorf 6
Guangzhou 6
Johannesburg 6
London 6
Nairobi 6
Nuremberg 6
Santa Clara 6
Turku 6
Waanrode 6
Zhengzhou 6
Bexley 5
Dhaka 5
Fuzhou 5
Kish 5
Lanzhou 5
Vienna 5
Belo Horizonte 4
Biên Hòa 4
Charlotte 4
Chicago 4
Falls Church 4
Haiphong 4
Indiana 4
Kent 4
Las Vegas 4
Montevideo 4
Morlupo 4
Totale 2.862
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Nome #
The chromosome analysis of the miscarriage tissue. Miscarried embryo/fetal crown rump length (CRL) measurement: A practical use 429
Chromosome 9p deletion syndrome and sex reversal: novel findings and redefinition of the critically deleted regions 405
Mild beckwith-wiedemann and severe long-QT syndrome due to deletion of the imprinting center 2 on chromosome 11p. 248
Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder 209
Gene expression profile of glioblastoma peritumoral tissue: an ex vivo study 173
Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome 173
Chromosome 9p deletion syndrome and sex reversal: novel findings and redefinition of the critically deleted regions. 172
Early onset myoclonic epilepsy and 15q26 microdeletion: Observation of the first case. 168
Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder 168
Unique genomic profile associated with pediatric uveal melanoma 152
Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders. 151
Variable expressivity of a familial 1.9 Mb microdeletion in 3q28 leading to haploinsufficiency of TP63: Refinement of the critical region for a new microdeletion phenotype 151
Proposal of a clinical score for the molecular test for Pitt-Hopkins syndrome 146
Wolf-Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16 145
Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients 142
A novel truncating variant within exon 7 of KAT6B associated with features of both Say–Barber–Bieseker–Young–Simpson syndrome and genitopatellar syndrome: Further evidence of a continuum in the clinical spectrum of KAT6B-related disorders 142
A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus 141
Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype 140
Rare missense variants of neuronal nicotinic acetylcholine receptor altering receptor function are associated with sporadic amyotrophic lateral sclerosis. 139
Gene expression profile of glioblastoma peritumoral tissue: an ex vivo study 138
The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria 135
Early onset myoclonic epilepsy and 15q26 microdeletion: observation of the first case 135
Interstitial deletion of 3p22.3p22.2 encompassing ARPP21 and CLASP2 is a potential pathogenic factor for a syndromic form of intellectual disability: a co-morbidity model with additional copy number variations in a large family 134
Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes 133
TRAPPC9-related autosomal recessive intellectual disability: report of a new mutation and clinical phenotype 128
Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4 118
Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype 112
A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus. 111
Variable expressivity of a familial 1.9 Mb microdeletion in 3q28 leading to haploinsufficiency of TP63: Refinement of the critical region for a new microdeletion phenotype. 111
Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome 109
Variable expressivity of a familial 1.9 Mb microdeletion in 3q28 leading to haploinsufficiency of TP63: Refinement of the critical region for a new microdeletion phenotype. 98
The chromosome analysis of the miscarriage tissue. Miscarried embryo/fetal crown rump length (CRL) measurement: A practical use. 97
Syndromic craniosynostosis can define new candidate genes for suture development or result from the non-specifc effects of pleiotropic genes: Rasopathies and chromatinopathies as examples 95
Three unrelated patients with congenital anterior pituitary aplasia and a characteristic physical and neuropsychological phenotype: a new syndrome? 94
Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome. 75
Expanding the spectrum of rearrangements involving chromosome 19: a mild phenotype associated with a 19p13.12-p13.13 deletion. 70
Partial epilepsy complicated by convulsive and non convulsive episodes of status epilepticus in a patient with ring chromosome 14 syndrome 64
Totale 5.551
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Categoria #
all - tutte 19.768
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 19.768
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021228 0 0 0 0 0 27 51 9 54 14 69 4
2021/2022392 38 33 6 26 23 22 6 88 14 19 48 69
2022/2023840 118 124 60 149 42 105 35 75 77 10 27 18
2023/2024351 10 99 14 32 19 76 12 4 0 6 33 46
2024/2025666 19 26 45 37 47 25 13 34 116 59 131 114
2025/2026951 295 50 70 178 329 29 0 0 0 0 0 0
Totale 5.551