Murdolo, Marina
 Distribuzione geografica
Continente #
NA - Nord America 697
EU - Europa 690
AS - Asia 268
SA - Sud America 28
OC - Oceania 3
AF - Africa 2
Totale 1.688
Nazione #
US - Stati Uniti d'America 693
DE - Germania 283
CN - Cina 122
SE - Svezia 102
SG - Singapore 99
UA - Ucraina 81
IT - Italia 71
FR - Francia 33
BR - Brasile 28
IE - Irlanda 26
GB - Regno Unito 24
FI - Finlandia 21
RU - Federazione Russa 20
ID - Indonesia 16
IN - India 12
BE - Belgio 6
PL - Polonia 6
CA - Canada 4
JP - Giappone 4
NL - Olanda 4
TR - Turchia 4
AT - Austria 3
ES - Italia 2
KZ - Kazakistan 2
LT - Lituania 2
MA - Marocco 2
NZ - Nuova Zelanda 2
AL - Albania 1
AU - Australia 1
AZ - Azerbaigian 1
BD - Bangladesh 1
CH - Svizzera 1
CY - Cipro 1
GR - Grecia 1
IL - Israele 1
IR - Iran 1
IS - Islanda 1
LA - Repubblica Popolare Democratica del Laos 1
LV - Lettonia 1
RO - Romania 1
TH - Thailandia 1
UZ - Uzbekistan 1
VN - Vietnam 1
Totale 1.688
Città #
Chandler 164
Ashburn 58
Singapore 47
Jacksonville 44
San Mateo 31
Wilmington 28
Nanjing 27
Dublin 25
Nürnberg 24
Houston 18
Ann Arbor 17
Dearborn 17
New York 17
Jakarta 16
Woodbridge 15
Moscow 14
Beijing 13
Lawrence 13
Nanchang 12
Cattolica 11
Frankfurt am Main 11
Los Angeles 11
Marseille 10
Boston 9
Redwood City 8
Rome 8
Tianjin 8
University Park 8
Fairfield 7
Kunming 7
Seattle 7
Changsha 6
Fremont 6
Milan 6
Boardman 5
Bremen 5
San Diego 5
Simi Valley 5
Hangzhou 4
Helsinki 4
Izmir 4
Lancaster 4
Leawood 4
Morlupo 4
Mountain View 4
Norwalk 4
Port Orchard 4
Tokyo 4
Waanrode 4
Brescia 3
Changchun 3
Guangzhou 3
Hebei 3
Monmouth Junction 3
Nuremberg 3
Philadelphia 3
Princeton 3
San Jose 3
Shenyang 3
São Paulo 3
Zhengzhou 3
Almaty 2
Auckland 2
Bari 2
Boulder 2
Brasília 2
Charlestown 2
Florence 2
Jiaxing 2
Munich 2
Napoli 2
North Bergen 2
Padova 2
Park City 2
Perm 2
Podlasie 2
Portsmouth 2
Redmond 2
Romainville 2
Roubaix 2
San Francisco 2
San Giuliano Milanese 2
Stockholm 2
Taizhou 2
Turku 2
Vienna 2
Ahmedabad 1
Anaheim 1
Athens 1
Auburn Hills 1
Baku 1
Balneário Camboriú 1
Bangalore 1
Belo Horizonte 1
Bern 1
Bexley 1
Blagoveshchensk 1
Boa Vista 1
Brussels 1
Buffalo 1
Totale 887
Nome #
Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder 165
Von hippel-lindau disease and erythrocytosis 161
Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome 137
Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder 133
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
Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients 114
Rare missense variants of neuronal nicotinic acetylcholine receptor altering receptor function are associated with sporadic amyotrophic lateral sclerosis. 109
The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria 101
On the nosology and pathogenesis of Wolf-Hirschhorn sindrome: genotype-phenotype correlation analysis of 80 patients and literature review. 95
Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype 93
Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4 82
Wolf-Hirschhorn syndrome due to pure and translocation forms of monosomy 4p16.1 → pter 81
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 72
The terminal 760 kb region on 4p16 is unlikely to be the critical interval for growth delay in Wolf-Hirschhorn syndrome. 69
Germinal mosaicism for a deletion of the FMR1 gene leading to fragile X syndrome 69
Totale 1.713
Categoria #
all - tutte 6.687
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 6.687


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/202019 0 0 0 0 0 0 0 0 0 0 0 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
2024/2025271 8 9 22 20 24 10 2 27 70 19 58 2
Totale 1.713