IRIS UniCatt

Orteschi, Daniela
 Distribuzione geografica
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Continente #
EU - Europa 1.966
NA - Nord America 1.753
AS - Asia 617
SA - Sud America 86
AF - Africa 12
OC - Oceania 2
Totale 4.436
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Nazione #
US - Stati Uniti d'America 1.736
DE - Germania 743
PL - Polonia 284
CN - Cina 269
SE - Svezia 245
SG - Singapore 204
UA - Ucraina 183
IT - Italia 176
FR - Francia 100
BR - Brasile 81
IE - Irlanda 65
GB - Regno Unito 46
FI - Finlandia 43
ID - Indonesia 39
RU - Federazione Russa 29
IN - India 27
TR - Turchia 20
NL - Olanda 14
BE - Belgio 13
CA - Canada 12
JP - Giappone 12
IR - Iran 11
AT - Austria 7
VN - Vietnam 7
BD - Bangladesh 3
BZ - Belize 3
CI - Costa d'Avorio 3
HK - Hong Kong 3
KZ - Kazakistan 3
MT - Malta 3
CH - Svizzera 2
CY - Cipro 2
CZ - Repubblica Ceca 2
EG - Egitto 2
ES - Italia 2
IL - Israele 2
IQ - Iraq 2
KG - Kirghizistan 2
MA - Marocco 2
NZ - Nuova Zelanda 2
PE - Perù 2
PK - Pakistan 2
AL - Albania 1
AZ - Azerbaigian 1
BY - Bielorussia 1
CL - Cile 1
DZ - Algeria 1
EC - Ecuador 1
GA - Gabon 1
GR - Grecia 1
HU - Ungheria 1
IS - Islanda 1
KE - Kenya 1
KR - Corea 1
KW - Kuwait 1
LA - Repubblica Popolare Democratica del Laos 1
LK - Sri Lanka 1
LT - Lituania 1
LV - Lettonia 1
ML - Mali 1
MY - Malesia 1
NG - Nigeria 1
PA - Panama 1
PH - Filippine 1
RO - Romania 1
RS - Serbia 1
TH - Thailandia 1
TT - Trinidad e Tobago 1
UY - Uruguay 1
UZ - Uzbekistan 1
Totale 4.436
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Città #
Chandler 348
Warsaw 274
Ashburn 130
Jacksonville 101
Singapore 98
San Mateo 83
Nanjing 67
Dublin 63
Wilmington 63
New York 60
Cattolica 58
Woodbridge 55
Ann Arbor 54
Fairfield 50
Nürnberg 49
Houston 48
Redmond 44
Jakarta 38
Dearborn 37
Seattle 29
Lawrence 28
Marseille 26
Redwood City 24
Boston 23
Nanchang 23
Milan 22
Los Angeles 21
Moscow 21
Hangzhou 20
Cambridge 19
Munich 18
Izmir 17
Beijing 16
Lancaster 16
Norwalk 16
Rome 16
Fremont 15
Boardman 13
Bremen 13
Frankfurt am Main 13
Mountain View 13
Changsha 11
Helsinki 11
Kunming 10
University Park 10
Jiaxing 9
Princeton 9
Shenyang 9
Tianjin 9
Brussels 7
Hebei 7
Leawood 7
Ardabil 6
Brasília 6
Düsseldorf 6
Guangzhou 6
San Diego 6
San Jose 6
São Paulo 6
Waanrode 6
Zhengzhou 6
Fuzhou 5
Kish 5
Lanzhou 5
Nuremberg 5
Toronto 5
Vienna 5
Buffalo 4
Falls Church 4
Hanoi 4
Indiana 4
Las Vegas 4
Morlupo 4
Naples 4
Phoenix 4
Portsmouth 4
Pune 4
Tokyo 4
West Jordan 4
Abidjan 3
Belize City 3
Belo Horizonte 3
Brescia 3
Catania 3
Changchun 3
Hefei 3
Jinan 3
Kraków 3
Lauterbourg 3
Monmouth Junction 3
Philadelphia 3
Roubaix 3
Santa Clara 3
Stockholm 3
Washington 3
Alexandria 2
Almaty 2
Auckland 2
Augusta 2
Bari 2
Totale 2.431
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Nome #
The chromosome analysis of the miscarriage tissue. Miscarried embryo/fetal crown rump length (CRL) measurement: A practical use 396
Chromosome 9p deletion syndrome and sex reversal: novel findings and redefinition of the critically deleted regions 358
Mild beckwith-wiedemann and severe long-QT syndrome due to deletion of the imprinting center 2 on chromosome 11p. 222
Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder 165
Chromosome 9p deletion syndrome and sex reversal: novel findings and redefinition of the critically deleted regions. 148
Gene expression profile of glioblastoma peritumoral tissue: an ex vivo study 145
Early onset myoclonic epilepsy and 15q26 microdeletion: Observation of the first case. 138
Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome 135
Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder 133
Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders. 127
Unique genomic profile associated with pediatric uveal melanoma 125
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 123
A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus 119
Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype 118
Wolf-Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16 114
Early onset myoclonic epilepsy and 15q26 microdeletion: observation of the first case 114
Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients 114
Gene expression profile of glioblastoma peritumoral tissue: an ex vivo study 110
Rare missense variants of neuronal nicotinic acetylcholine receptor altering receptor function are associated with sporadic amyotrophic lateral sclerosis. 109
Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes 105
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 105
Proposal of a clinical score for the molecular test for Pitt-Hopkins syndrome 104
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 104
The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria 101
Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype 93
TRAPPC9-related autosomal recessive intellectual disability: report of a new mutation and clinical phenotype 92
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. 92
Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome 90
A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus. 83
Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4 82
Three unrelated patients with congenital anterior pituitary aplasia and a characteristic physical and neuropsychological phenotype: a new syndrome? 75
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. 73
The chromosome analysis of the miscarriage tissue. Miscarried embryo/fetal crown rump length (CRL) measurement: A practical use. 66
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 61
Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome. 54
Expanding the spectrum of rearrangements involving chromosome 19: a mild phenotype associated with a 19p13.12-p13.13 deletion. 49
Partial epilepsy complicated by convulsive and non convulsive episodes of status epilepticus in a patient with ring chromosome 14 syndrome 43
Totale 4.485
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Categoria #
all - tutte 16.115
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 16.115
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020116 0 0 0 0 0 0 0 0 0 0 67 49
2020/2021409 16 45 10 47 63 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
2024/2025551 19 26 45 37 47 25 13 34 116 59 130 0
Totale 4.485