IRIS
GANA, SIMONE
 Distribuzione geografica
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Continente #
NA - Nord America 509
EU - Europa 442
AS - Asia 367
SA - Sud America 82
AF - Africa 9
Totale 1.409
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Nazione #
US - Stati Uniti d'America 482
CN - Cina 118
SG - Singapore 109
IE - Irlanda 107
RU - Federazione Russa 89
BR - Brasile 70
DE - Germania 70
IT - Italia 63
HK - Hong Kong 61
FI - Finlandia 43
VN - Vietnam 35
GB - Regno Unito 18
IN - India 13
CA - Canada 12
JP - Giappone 12
MX - Messico 12
FR - Francia 11
AT - Austria 7
PL - Polonia 7
ES - Italia 6
SE - Svezia 6
NL - Olanda 5
ZA - Sudafrica 5
AR - Argentina 3
BD - Bangladesh 3
LV - Lettonia 3
PY - Paraguay 3
UA - Ucraina 3
EC - Ecuador 2
IQ - Iraq 2
KR - Corea 2
PE - Perù 2
TR - Turchia 2
AM - Armenia 1
CL - Cile 1
CO - Colombia 1
CR - Costa Rica 1
CZ - Repubblica Ceca 1
EG - Egitto 1
HN - Honduras 1
HR - Croazia 1
ID - Indonesia 1
KE - Kenya 1
KG - Kirghizistan 1
KZ - Kazakistan 1
LA - Repubblica Popolare Democratica del Laos 1
LB - Libano 1
LT - Lituania 1
MA - Marocco 1
MY - Malesia 1
NI - Nicaragua 1
PK - Pakistan 1
RO - Romania 1
TJ - Tagikistan 1
TM - Turkmenistan 1
TN - Tunisia 1
Totale 1.409
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Città #
Dublin 104
Chandler 70
Hong Kong 61
Ashburn 60
Singapore 52
Beijing 43
Dallas 36
Los Angeles 29
Munich 26
Helsinki 22
Boardman 20
Turku 18
New York 17
Moscow 16
Falkenstein 14
Redondo Beach 14
Shanghai 14
Ho Chi Minh City 11
Princeton 11
Tokyo 11
Lawrence 10
Medford 9
Nuremberg 9
São Paulo 9
Wilmington 9
Pavia 8
Buffalo 7
Hanoi 7
The Dalles 7
Warsaw 7
Columbus 6
Milan 6
Nanjing 6
Rome 6
Jacksonville 5
Johannesburg 5
Montreal 5
Atlanta 4
Brasília 4
Chennai 4
Chicago 4
Denver 4
Düsseldorf 4
Frankfurt am Main 4
Haiphong 4
Houston 4
Orem 4
Phoenix 4
Stockholm 4
Brooklyn 3
Fairfield 3
Florence 3
Hebei 3
London 3
Mexico City 3
Querétaro 3
Riga 3
Santa Clara 3
Toronto 3
Turin 3
Washington 3
Amsterdam 2
Ann Arbor 2
Berlin 2
Brescia 2
Bắc Giang 2
Carney 2
Ciudad del Este 2
Guangzhou 2
Jiaxing 2
Mauá 2
Monfalcone 2
Mumbai 2
Paris 2
Poplar 2
Porto Alegre 2
Pune 2
Quảng Nam Province 2
Ribeirão Preto 2
Ribeirão das Neves 2
Rio Claro 2
Salvador 2
Seoul 2
Shenyang 2
Telgate 2
Trieste 2
Zhengzhou 2
Almaty 1
Angra dos Reis 1
Ankara 1
Ashgabat 1
Augusta 1
Baghdad 1
Bahacheve 1
Bishkek 1
Biên Hòa 1
Boca Toma 1
Botucatu 1
Brumadinho 1
Butiá 1
Totale 919
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Nome #
Alazami syndrome: Phenotypic expansion and clinical resemblance to Smith–Lemli–Opitz syndrome 113
Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association 104
PSEN1 Compound Heterozygous Mutations Associated with Cerebral Amyloid Angiopathy and Cognitive Decline Phenotype 101
RFC1 expansions are a common cause of idiopathic sensory neuropathy 100
Loss-of-function FANCL mutations associate with severe fanconi anemia overlapping the VACTERL association 96
A novel variant in NEUROD2 in a patient with Rett-like phenotype points to Glu130 codon as a mutational hotspot 95
Histologic heterogeneity and syndromic associations of non-ampullary duodenal polyps and superficial mucosal lesions 84
Mutation in RNF170 causes sensory ataxic neuropathy with vestibular areflexia: a CANVAS mimic 78
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 72
PUS3-related disorder: Report of a novel patient and delineation of the phenotypic spectrum 71
Genotype-phenotype correlates in Joubert syndrome: A review 64
Movement Disorders in Genetic Pediatric Ataxias 61
Expanding the Phenotypic Spectrum Associated with DPH5-Related Diphthamide Deficiency 60
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome 56
PGAP2-Related Hyperphosphatasia-Mental Retardation Syndrome: Report of a Novel Patient, Toward a Broadening of Phenotypic Spectrum and Therapeutic Perspectives 44
Novel HYLS1 variants associated with Joubert syndrome suggest potential genotype-phenotype correlates 43
Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome 42
Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genes 42
Electroclinical Improvement in a Patient with Ring Chromosome 20 Syndrome Treated with Zonisamide: A Case Report 41
National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy 36
LZTFL1, a rare cause of Bardet–Biedl syndrome: A new patient with severe short stature and moderate intellectual disability, more than casual associations? 35
Totale 1.438
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Categoria #
all - tutte 6.445
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 6.445
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202116 0 0 0 0 0 2 0 5 0 8 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
2025/2026529 106 54 84 153 102 30 0 0 0 0 0 0
Totale 1.438