IRIS PubliCatt

Murdolo, Marina
 Distribuzione geografica
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Continente #
NA - Nord America 647
EU - Europa 631
AS - Asia 144
OC - Oceania 1
SA - Sud America 1
Totale 1.424
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Nazione #
US - Stati Uniti d'America 645
DE - Germania 268
CN - Cina 113
SE - Svezia 100
UA - Ucraina 81
IT - Italia 65
IE - Irlanda 26
FR - Francia 24
GB - Regno Unito 18
RU - Federazione Russa 16
FI - Finlandia 15
SG - Singapore 13
IN - India 11
BE - Belgio 5
NL - Olanda 4
PL - Polonia 4
TR - Turchia 4
CA - Canada 2
AT - Austria 1
AU - Australia 1
BR - Brasile 1
CH - Svizzera 1
ES - Italia 1
IR - Iran 1
IS - Islanda 1
JP - Giappone 1
KZ - Kazakistan 1
RO - Romania 1
Totale 1.424
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Città #
Chandler 164
Ashburn 55
Jacksonville 44
San Mateo 31
Wilmington 28
Nanjing 27
Dublin 25
Nürnberg 24
Houston 18
Ann Arbor 17
Dearborn 17
New York 16
Woodbridge 15
Moscow 14
Beijing 13
Lawrence 13
Nanchang 12
Cattolica 11
Marseille 10
Boston 9
Redwood City 8
Singapore 8
Tianjin 8
University Park 8
Fairfield 7
Kunming 7
Rome 7
Changsha 6
Fremont 6
Seattle 6
Boardman 5
Bremen 5
Milan 5
San Diego 5
Simi Valley 5
Izmir 4
Lancaster 4
Leawood 4
Los Angeles 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
Jiaxing 2
Munich 2
Napoli 2
Padova 2
Podlasie 2
Redmond 2
Romainville 2
San Giuliano Milanese 2
Taizhou 2
Ahmedabad 1
Almaty 1
Anaheim 1
Auburn Hills 1
Bangalore 1
Bern 1
Buffalo 1
Costa Mesa 1
Edinburgh 1
Edison 1
Frankfurt am Main 1
Fuzhou 1
Gallatin 1
Glossop 1
Gunzenhausen 1
Imola 1
Kish 1
Las Vegas 1
Leeds 1
Mannheim 1
Mcallen 1
Mons 1
Mumbai 1
Olbia 1
Palermo 1
Phoenix 1
Pisa 1
Pomigliano d'Arco 1
Pune 1
Reggio Nell'emilia 1
Reus 1
San Francisco 1
Selargius 1
Totale 785
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Nome #
Von hippel-lindau disease and erythrocytosis 146
Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder 142
Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder 119
Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome 118
Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype 106
Wolf-Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16 94
Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients 94
Rare missense variants of neuronal nicotinic acetylcholine receptor altering receptor function are associated with sporadic amyotrophic lateral sclerosis. 91
The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria 83
Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype 79
On the nosology and pathogenesis of Wolf-Hirschhorn sindrome: genotype-phenotype correlation analysis of 80 patients and literature review. 78
Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4 66
Wolf-Hirschhorn syndrome due to pure and translocation forms of monosomy 4p16.1 → pter 60
Germinal mosaicism for a deletion of the FMR1 gene leading to fragile X syndrome 60
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 58
The terminal 760 kb region on 4p16 is unlikely to be the critical interval for growth delay in Wolf-Hirschhorn syndrome. 55
Totale 1.449
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Categoria #
all - tutte 4.818
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 4.818
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020226 45 32 13 9 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
2024/20257 7 0 0 0 0 0 0 0 0 0 0 0
Totale 1.449