IRIS
GANA, SIMONE
 Distribuzione geografica
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Continente #
NA - Nord America 791
EU - Europa 560
AS - Asia 527
SA - Sud America 113
Continente sconosciuto - Info sul continente non disponibili 34
AF - Africa 31
Totale 2.056
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Nazione #
US - Stati Uniti d'America 758
SG - Singapore 143
CN - Cina 141
IT - Italia 127
IE - Irlanda 107
RU - Federazione Russa 90
VN - Vietnam 86
BR - Brasile 79
DE - Germania 76
HK - Hong Kong 69
FI - Finlandia 43
FR - Francia 32
GB - Regno Unito 23
IN - India 22
ZA - Sudafrica 22
CA - Canada 17
BD - Bangladesh 15
JP - Giappone 15
MX - Messico 12
NL - Olanda 10
AR - Argentina 9
AT - Austria 8
IQ - Iraq 8
PL - Polonia 8
CO - Colombia 7
ES - Italia 7
SE - Svezia 6
PY - Paraguay 5
EC - Ecuador 4
ID - Indonesia 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
DZ - Algeria 2
EG - Egitto 2
HU - Ungheria 2
LT - Lituania 2
MY - Malesia 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
CR - Costa Rica 1
DK - Danimarca 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
MA - Marocco 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 2.022
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Città #
San Jose 115
Dublin 104
Ashburn 86
Singapore 76
Chandler 70
Hong Kong 67
Council Bluffs 47
Beijing 44
Dallas 38
Los Angeles 33
Ho Chi Minh City 27
Munich 26
Helsinki 22
Hanoi 21
Johannesburg 21
Milan 21
New York 21
Boardman 20
Lauterbourg 19
Turku 18
Santa Clara 17
Moscow 16
Falkenstein 14
Redondo Beach 14
Shanghai 14
Columbus 13
Tokyo 13
Figino 11
Princeton 11
Lawrence 10
Pavia 10
São Paulo 10
Medford 9
Nuremberg 9
Rome 9
Wilmington 9
Buffalo 8
Frankfurt am Main 8
The Dalles 8
Turin 8
Warsaw 8
Atlanta 6
Montreal 6
Nanjing 6
Phoenix 6
Brasília 5
Chennai 5
Chicago 5
Haiphong 5
Jacksonville 5
Orem 5
Toronto 5
Berlin 4
Brescia 4
Denver 4
Düsseldorf 4
Houston 4
London 4
Stockholm 4
Amsterdam 3
Bologna 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
Seattle 3
Seoul 3
Washington 3
Ann Arbor 2
Baghdad 2
Biên Hòa 2
Brussels 2
Budapest 2
Bắc Giang 2
Carney 2
Cinisello Balsamo 2
City of London 2
Claymont 2
Da Nang 2
Escondido 2
Fort Worth 2
Guangzhou 2
Hai Bà Trưng 2
Itajaí 2
Jiaxing 2
Karbala 2
Lima 2
Ljubljana 2
Ludhiana 2
Madrid 2
Mauá 2
Totale 1.312
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Nome #
RFC1 expansions are a common cause of idiopathic sensory neuropathy 142
Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome 139
Alazami syndrome: Phenotypic expansion and clinical resemblance to Smith–Lemli–Opitz syndrome 137
PSEN1 Compound Heterozygous Mutations Associated with Cerebral Amyloid Angiopathy and Cognitive Decline Phenotype 134
Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association 125
A novel variant in NEUROD2 in a patient with Rett-like phenotype points to Glu130 codon as a mutational hotspot 118
Loss-of-function FANCL mutations associate with severe fanconi anemia overlapping the VACTERL association 117
Histologic heterogeneity and syndromic associations of non-ampullary duodenal polyps and superficial mucosal lesions 106
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 98
Mutation in RNF170 causes sensory ataxic neuropathy with vestibular areflexia: a CANVAS mimic 97
PUS3-related disorder: Report of a novel patient and delineation of the phenotypic spectrum 97
Genotype-phenotype correlates in Joubert syndrome: A review 84
Expanding the Phenotypic Spectrum Associated with DPH5-Related Diphthamide Deficiency 82
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome 82
Movement Disorders in Genetic Pediatric Ataxias 70
Novel HYLS1 variants associated with Joubert syndrome suggest potential genotype-phenotype correlates 67
Electroclinical Improvement in a Patient with Ring Chromosome 20 Syndrome Treated with Zonisamide: A Case Report 67
PGAP2-Related Hyperphosphatasia-Mental Retardation Syndrome: Report of a Novel Patient, Toward a Broadening of Phenotypic Spectrum and Therapeutic Perspectives 65
Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genes 64
National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy 61
LZTFL1, a rare cause of Bardet–Biedl syndrome: A new patient with severe short stature and moderate intellectual disability, more than casual associations? 59
A de novo ZMYM2 gene variant associated to a Rett-like phenotype: Case report of a new phenotype and review of the literature 11
Expanding the Phenotypic Spectrum of SPG4: Autism Spectrum Disorder in Early-Onset and Complex SPAST-HSP and Case Study 11
Further evidence of RNU4ATAC variants causing Joubert syndrome with skeletal involvement 11
KIF5C-Related Neurodevelopmental Disorder: Three New Cases and Additional Neuroradiologic Insights 7
Asymmetric Parietal Cortical Atrophy in a Patient with RAB39B-Associated Parkinsonism 5
Totale 2.056
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Categoria #
all - tutte 8.707
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 8.707
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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
2026/2027159 21 127 11 0 0 0 0 0 0 0 0 0
Totale 2.056