IRIS
GANA, SIMONE
 Distribuzione geografica
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Continente #
NA - Nord America 978
EU - Europa 626
AS - Asia 534
SA - Sud America 113
Continente sconosciuto - Info sul continente non disponibili 36
AF - Africa 32
Totale 2.319
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Nazione #
US - Stati Uniti d'America 924
IT - Italia 178
CN - Cina 143
SG - Singapore 143
IE - Irlanda 107
RU - Federazione Russa 92
VN - Vietnam 86
BR - Brasile 79
DE - Germania 78
HK - Hong Kong 69
FI - Finlandia 43
FR - Francia 33
GB - Regno Unito 29
CA - Canada 25
IN - India 22
ZA - Sudafrica 22
BD - Bangladesh 15
JP - Giappone 15
MX - Messico 13
NL - Olanda 13
AR - Argentina 9
AT - Austria 8
IQ - Iraq 8
PL - Polonia 8
CO - Colombia 7
CR - Costa Rica 7
ES - Italia 7
ID - Indonesia 6
SE - Svezia 6
PY - Paraguay 5
EC - Ecuador 4
PE - Perù 4
UA - Ucraina 4
CZ - Repubblica Ceca 3
KR - Corea 3
LV - Lettonia 3
PK - Pakistan 3
RO - Romania 3
VE - Venezuela 3
BE - Belgio 2
CW - ???statistics.table.value.countryCode.CW??? 2
DZ - Algeria 2
EG - Egitto 2
GP - Guadalupe 2
HU - Ungheria 2
IL - Israele 2
LT - Lituania 2
MA - Marocco 2
MY - Malesia 2
NI - Nicaragua 2
SA - Arabia Saudita 2
SI - Slovenia 2
TN - Tunisia 2
TR - Turchia 2
AE - Emirati Arabi Uniti 1
AM - Armenia 1
AZ - Azerbaigian 1
BH - Bahrain 1
BO - Bolivia 1
CL - Cile 1
DK - Danimarca 1
EE - Estonia 1
ET - Etiopia 1
HN - Honduras 1
HR - Croazia 1
JM - Giamaica 1
KE - Kenya 1
KG - Kirghizistan 1
KZ - Kazakistan 1
LA - Repubblica Popolare Democratica del Laos 1
LB - Libano 1
NP - Nepal 1
OM - Oman 1
PA - Panama 1
SV - El Salvador 1
SY - Repubblica araba siriana 1
TJ - Tagikistan 1
TM - Turkmenistan 1
TT - Trinidad e Tobago 1
Totale 2.285
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Città #
San Jose 133
Dublin 104
Ashburn 92
Singapore 76
Chandler 70
Council Bluffs 69
Hong Kong 67
Beijing 44
Dallas 39
Los Angeles 35
Ho Chi Minh City 27
Milan 26
Munich 26
New York 24
Helsinki 22
Hanoi 21
Johannesburg 21
Boardman 20
Santa Clara 20
Lauterbourg 19
Turku 18
Moscow 16
Rome 15
Falkenstein 14
Redondo Beach 14
Shanghai 14
Columbus 13
Princeton 13
Tokyo 13
Figino 11
Frankfurt am Main 10
Lawrence 10
Pavia 10
São Paulo 10
Medford 9
Nuremberg 9
Wilmington 9
Buffalo 8
Montreal 8
Phoenix 8
The Dalles 8
Turin 8
Warsaw 8
Atlanta 7
Brooklyn 7
Chicago 6
Nanjing 6
San José 6
Toronto 6
Brasília 5
Brescia 5
Chennai 5
Denver 5
Florence 5
Haiphong 5
Jacksonville 5
Naples 5
North Bergen 5
Orem 5
Berlin 4
Düsseldorf 4
Fort Worth 4
Houston 4
London 4
Mexico City 4
Stockholm 4
Amsterdam 3
Bologna 3
Ciudad del Este 3
Fairfield 3
Guayaquil 3
Hebei 3
Huế 3
Mumbai 3
Newark 3
North Kansas City 3
Paris 3
Philadelphia 3
Querétaro 3
Riga 3
Schio 3
Seattle 3
Seoul 3
Washington 3
Ann Arbor 2
Baghdad 2
Bakersfield 2
Bari 2
Biên Hòa 2
Brussels 2
Budapest 2
Bắc Giang 2
Carney 2
Charlotte 2
Cinisello Balsamo 2
City of London 2
Claymont 2
Da Nang 2
Escondido 2
Genoa 2
Totale 1.413
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Nome #
RFC1 expansions are a common cause of idiopathic sensory neuropathy 154
Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome 147
PSEN1 Compound Heterozygous Mutations Associated with Cerebral Amyloid Angiopathy and Cognitive Decline Phenotype 144
Alazami syndrome: Phenotypic expansion and clinical resemblance to Smith–Lemli–Opitz syndrome 143
Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association 135
A novel variant in NEUROD2 in a patient with Rett-like phenotype points to Glu130 codon as a mutational hotspot 126
Loss-of-function FANCL mutations associate with severe fanconi anemia overlapping the VACTERL association 123
Histologic heterogeneity and syndromic associations of non-ampullary duodenal polyps and superficial mucosal lesions 118
Relationship between adverse effects of antiepileptic drugs, number of coprescribed drugs, and drug load in a large cohort of consecutive patients with drug-refractory epilepsy 107
Mutation in RNF170 causes sensory ataxic neuropathy with vestibular areflexia: a CANVAS mimic 104
PUS3-related disorder: Report of a novel patient and delineation of the phenotypic spectrum 103
Expanding the Phenotypic Spectrum Associated with DPH5-Related Diphthamide Deficiency 93
Genotype-phenotype correlates in Joubert syndrome: A review 91
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome 90
Novel HYLS1 variants associated with Joubert syndrome suggest potential genotype-phenotype correlates 81
Movement Disorders in Genetic Pediatric Ataxias 79
PGAP2-Related Hyperphosphatasia-Mental Retardation Syndrome: Report of a Novel Patient, Toward a Broadening of Phenotypic Spectrum and Therapeutic Perspectives 75
Electroclinical Improvement in a Patient with Ring Chromosome 20 Syndrome Treated with Zonisamide: A Case Report 75
National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy 74
Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genes 73
LZTFL1, a rare cause of Bardet–Biedl syndrome: A new patient with severe short stature and moderate intellectual disability, more than casual associations? 71
Expanding the Phenotypic Spectrum of SPG4: Autism Spectrum Disorder in Early-Onset and Complex SPAST-HSP and Case Study 27
A de novo ZMYM2 gene variant associated to a Rett-like phenotype: Case report of a new phenotype and review of the literature 25
Further evidence of RNU4ATAC variants causing Joubert syndrome with skeletal involvement 25
KIF5C-Related Neurodevelopmental Disorder: Three New Cases and Additional Neuroradiologic Insights 21
Asymmetric Parietal Cortical Atrophy in a Patient with RAB39B-Associated Parkinsonism 15
Totale 2.319
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Categoria #
all - tutte 9.642
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 9.642
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/202250 0 0 0 0 1 1 0 8 1 1 9 29
2022/2023234 20 18 8 10 15 20 1 11 120 2 5 4
2023/2024115 14 17 4 3 7 21 3 12 3 6 9 16
2024/2025441 10 13 5 9 4 37 36 43 121 39 48 76
2025/2026988 106 54 84 153 102 41 147 54 106 54 54 33
2026/2027422 21 127 87 130 57 0 0 0 0 0 0 0
Totale 2.319