IRIS PubliCatt

Murdolo, Marina
 Distribuzione geografica
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Continente #
NA - Nord America 655
EU - Europa 644
AS - Asia 198
AF - Africa 1
OC - Oceania 1
SA - Sud America 1
Totale 1.500
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Nazione #
US - Stati Uniti d'America 651
DE - Germania 268
CN - Cina 117
SE - Svezia 100
UA - Ucraina 81
IT - Italia 71
SG - Singapore 45
IE - Irlanda 26
FR - Francia 24
GB - Regno Unito 21
ID - Indonesia 16
RU - Federazione Russa 16
FI - Finlandia 15
IN - India 12
BE - Belgio 6
CA - Canada 4
NL - Olanda 4
PL - Polonia 4
TR - Turchia 4
JP - Giappone 2
LT - Lituania 2
AT - Austria 1
AU - Australia 1
BR - Brasile 1
CH - Svizzera 1
ES - Italia 1
IR - Iran 1
IS - Islanda 1
KZ - Kazakistan 1
LV - Lettonia 1
MA - Marocco 1
RO - Romania 1
Totale 1.500
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Città #
Chandler 164
Ashburn 55
Jacksonville 44
Singapore 38
San Mateo 31
Wilmington 28
Nanjing 27
Dublin 25
Nürnberg 24
Houston 18
Ann Arbor 17
Dearborn 17
Jakarta 16
New York 16
Woodbridge 15
Moscow 14
Beijing 13
Lawrence 13
Nanchang 12
Cattolica 11
Marseille 10
Boston 9
Redwood City 8
Rome 8
Tianjin 8
University Park 8
Fairfield 7
Kunming 7
Changsha 6
Fremont 6
Milan 6
Seattle 6
Boardman 5
Bremen 5
Los Angeles 5
San Diego 5
Simi Valley 5
Izmir 4
Lancaster 4
Leawood 4
Morlupo 4
Mountain View 4
Norwalk 4
Port Orchard 4
Waanrode 4
Brescia 3
Changchun 3
Guangzhou 3
Hangzhou 3
Hebei 3
Monmouth Junction 3
Philadelphia 3
Princeton 3
San Jose 3
Shenyang 3
Zhengzhou 3
Bari 2
Boulder 2
Charlestown 2
Florence 2
Jiaxing 2
Munich 2
Napoli 2
Padova 2
Podlasie 2
Redmond 2
Romainville 2
San Giuliano Milanese 2
Taizhou 2
Tokyo 2
Ahmedabad 1
Almaty 1
Anaheim 1
Auburn Hills 1
Bangalore 1
Bern 1
Brussels 1
Buffalo 1
Costa Mesa 1
Edinburgh 1
Edison 1
Frankfurt am Main 1
Fuzhou 1
Gallatin 1
Glossop 1
Gunzenhausen 1
Harbin 1
Imola 1
Kish 1
Las Vegas 1
Leeds 1
London 1
Mannheim 1
Mcallen 1
Mons 1
Mumbai 1
Olbia 1
Ottawa 1
Palermo 1
Phoenix 1
Totale 835
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Nome #
Von hippel-lindau disease and erythrocytosis 151
Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder 148
Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder 123
Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome 122
Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype 111
Wolf-Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16 102
Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients 98
Rare missense variants of neuronal nicotinic acetylcholine receptor altering receptor function are associated with sporadic amyotrophic lateral sclerosis. 96
The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria 89
Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype 82
On the nosology and pathogenesis of Wolf-Hirschhorn sindrome: genotype-phenotype correlation analysis of 80 patients and literature review. 80
Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4 73
Wolf-Hirschhorn syndrome due to pure and translocation forms of monosomy 4p16.1 → pter 65
Germinal mosaicism for a deletion of the FMR1 gene leading to fragile X syndrome 64
Meiotic and pedigree segregation analyses in carriers of t(4;8)(p16;p23.1) differing in localization of breakpoint positions at 4p subband 4p16.3 and 4p16.1 62
The terminal 760 kb region on 4p16 is unlikely to be the critical interval for growth delay in Wolf-Hirschhorn syndrome. 59
Totale 1.525
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Categoria #
all - tutte 5.613
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 5.613
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020127 0 0 0 0 12 23 25 6 11 11 20 19
2020/2021136 4 16 1 15 19 8 13 1 24 4 30 1
2021/2022142 13 15 2 8 11 9 3 26 7 10 16 22
2022/2023361 41 56 23 67 25 46 13 40 32 4 5 9
2023/2024153 5 47 6 12 6 23 9 0 0 2 18 25
2024/202583 8 9 22 20 24 0 0 0 0 0 0 0
Totale 1.525