IRIS
GANA, SIMONE
 Distribuzione geografica
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Continente #
NA - Nord America 697
AS - Asia 511
EU - Europa 509
SA - Sud America 107
AF - Africa 31
Totale 1.855
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Nazione #
US - Stati Uniti d'America 667
SG - Singapore 140
CN - Cina 139
IE - Irlanda 107
RU - Federazione Russa 90
VN - Vietnam 83
IT - Italia 80
BR - Brasile 78
DE - Germania 74
HK - Hong Kong 68
FI - Finlandia 43
FR - Francia 31
GB - Regno Unito 23
IN - India 22
ZA - Sudafrica 22
CA - Canada 15
JP - Giappone 15
MX - Messico 12
BD - Bangladesh 11
NL - Olanda 9
AT - Austria 8
IQ - Iraq 8
PL - Polonia 8
AR - Argentina 7
ES - Italia 7
CO - Colombia 6
SE - Svezia 6
PY - Paraguay 5
EC - Ecuador 4
ID - Indonesia 4
UA - Ucraina 4
CZ - Repubblica Ceca 3
LV - Lettonia 3
PE - Perù 3
RO - Romania 3
BE - Belgio 2
DZ - Algeria 2
EG - Egitto 2
HU - Ungheria 2
KR - Corea 2
LT - Lituania 2
PK - Pakistan 2
SI - Slovenia 2
TN - Tunisia 2
TR - Turchia 2
VE - Venezuela 2
AE - Emirati Arabi Uniti 1
AM - Armenia 1
AZ - Azerbaigian 1
BH - Bahrain 1
BO - Bolivia 1
CL - Cile 1
CR - Costa Rica 1
DK - Danimarca 1
ET - Etiopia 1
HN - Honduras 1
HR - Croazia 1
KE - Kenya 1
KG - Kirghizistan 1
KZ - Kazakistan 1
LA - Repubblica Popolare Democratica del Laos 1
LB - Libano 1
MA - Marocco 1
MY - Malesia 1
NI - Nicaragua 1
NP - Nepal 1
OM - Oman 1
SA - Arabia Saudita 1
SY - Repubblica araba siriana 1
TJ - Tagikistan 1
TM - Turkmenistan 1
Totale 1.855
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Città #
San Jose 109
Dublin 104
Ashburn 77
Singapore 74
Chandler 70
Hong Kong 66
Beijing 43
Dallas 37
Los Angeles 32
Ho Chi Minh City 26
Munich 26
Helsinki 22
Johannesburg 21
Boardman 20
Hanoi 20
Lauterbourg 19
Council Bluffs 18
New York 18
Turku 18
Moscow 16
Falkenstein 14
Redondo Beach 14
Shanghai 14
Milan 13
Tokyo 13
Princeton 11
Lawrence 10
Santa Clara 10
São Paulo 10
Medford 9
Nuremberg 9
Wilmington 9
Buffalo 8
Frankfurt am Main 8
Pavia 8
Warsaw 8
The Dalles 7
Atlanta 6
Columbus 6
Montreal 6
Nanjing 6
Rome 6
Chennai 5
Haiphong 5
Jacksonville 5
Orem 5
Turin 5
Brasília 4
Chicago 4
Denver 4
Düsseldorf 4
Houston 4
London 4
Phoenix 4
Stockholm 4
Toronto 4
Amsterdam 3
Brooklyn 3
Ciudad del Este 3
Fairfield 3
Florence 3
Guayaquil 3
Hebei 3
Huế 3
Mexico City 3
Mumbai 3
North Kansas City 3
Paris 3
Querétaro 3
Riga 3
Washington 3
Ann Arbor 2
Baghdad 2
Berlin 2
Biên Hòa 2
Brescia 2
Brussels 2
Budapest 2
Bắc Giang 2
Carney 2
Cinisello Balsamo 2
City of London 2
Claymont 2
Da Nang 2
Guangzhou 2
Hai Bà Trưng 2
Itajaí 2
Jiaxing 2
Karbala 2
Ljubljana 2
Ludhiana 2
Madrid 2
Mauá 2
Medellín 2
Monfalcone 2
Poplar 2
Porto Alegre 2
Prague 2
Pune 2
Quảng Nam Province 2
Totale 1.205
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Nome #
Alazami syndrome: Phenotypic expansion and clinical resemblance to Smith–Lemli–Opitz syndrome 135
RFC1 expansions are a common cause of idiopathic sensory neuropathy 133
PSEN1 Compound Heterozygous Mutations Associated with Cerebral Amyloid Angiopathy and Cognitive Decline Phenotype 128
Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association 122
A novel variant in NEUROD2 in a patient with Rett-like phenotype points to Glu130 codon as a mutational hotspot 117
Loss-of-function FANCL mutations associate with severe fanconi anemia overlapping the VACTERL association 115
Histologic heterogeneity and syndromic associations of non-ampullary duodenal polyps and superficial mucosal lesions 101
Mutation in RNF170 causes sensory ataxic neuropathy with vestibular areflexia: a CANVAS mimic 95
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 94
PUS3-related disorder: Report of a novel patient and delineation of the phenotypic spectrum 94
Genotype-phenotype correlates in Joubert syndrome: A review 80
Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome 78
Expanding the Phenotypic Spectrum Associated with DPH5-Related Diphthamide Deficiency 77
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome 75
Movement Disorders in Genetic Pediatric Ataxias 69
Electroclinical Improvement in a Patient with Ring Chromosome 20 Syndrome Treated with Zonisamide: A Case Report 65
PGAP2-Related Hyperphosphatasia-Mental Retardation Syndrome: Report of a Novel Patient, Toward a Broadening of Phenotypic Spectrum and Therapeutic Perspectives 60
Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genes 60
Novel HYLS1 variants associated with Joubert syndrome suggest potential genotype-phenotype correlates 59
LZTFL1, a rare cause of Bardet–Biedl syndrome: A new patient with severe short stature and moderate intellectual disability, more than casual associations? 56
National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy 53
Expanding the Phenotypic Spectrum of SPG4: Autism Spectrum Disorder in Early-Onset and Complex SPAST-HSP and Case Study 8
Further evidence of RNU4ATAC variants causing Joubert syndrome with skeletal involvement 6
A de novo ZMYM2 gene variant associated to a Rett-like phenotype: Case report of a new phenotype and review of the literature 5
Asymmetric Parietal Cortical Atrophy in a Patient with RAB39B-Associated Parkinsonism 2
KIF5C-Related Neurodevelopmental Disorder: Three New Cases and Additional Neuroradiologic Insights 2
Totale 1.889
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Categoria #
all - tutte 7.787
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 7.787
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/20211 0 0 0 0 0 0 0 0 0 0 0 1
2021/202251 1 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
2025/2026980 106 54 84 153 102 41 147 54 106 54 54 25
Totale 1.889