IRIS
CONCOLINO, DANIELA
 Distribuzione geografica
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Continente #
AS - Asia 3.692
NA - Nord America 3.657
EU - Europa 1.367
SA - Sud America 1.358
AF - Africa 102
OC - Oceania 87
Continente sconosciuto - Info sul continente non disponibili 9
Totale 10.272
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Nazione #
US - Stati Uniti d'America 3.441
SG - Singapore 1.629
BR - Brasile 1.013
CN - Cina 751
IT - Italia 712
VN - Vietnam 597
IN - India 322
GB - Regno Unito 175
CA - Canada 129
AR - Argentina 127
SE - Svezia 126
AU - Australia 77
EC - Ecuador 76
ID - Indonesia 75
DE - Germania 71
UA - Ucraina 61
BD - Bangladesh 59
IQ - Iraq 48
MX - Messico 46
HK - Hong Kong 35
TR - Turchia 35
CL - Cile 34
FR - Francia 34
CO - Colombia 30
NL - Olanda 30
RU - Federazione Russa 26
ES - Italia 21
FI - Finlandia 21
PE - Perù 20
PL - Polonia 20
PY - Paraguay 20
TN - Tunisia 18
UY - Uruguay 18
ZA - Sudafrica 18
MA - Marocco 17
EG - Egitto 16
KE - Kenya 16
PK - Pakistan 15
SA - Arabia Saudita 14
VE - Venezuela 14
JP - Giappone 13
CZ - Repubblica Ceca 11
OM - Oman 11
RO - Romania 11
IR - Iran 9
MY - Malesia 8
NZ - Nuova Zelanda 8
TW - Taiwan 8
GT - Guatemala 7
HN - Honduras 7
JO - Giordania 7
NP - Nepal 7
BE - Belgio 6
BS - Bahamas 6
CH - Svizzera 6
DZ - Algeria 6
IL - Israele 6
UZ - Uzbekistan 6
A2 - ???statistics.table.value.countryCode.A2??? 5
AE - Emirati Arabi Uniti 5
AZ - Azerbaigian 5
BO - Bolivia 5
IE - Irlanda 4
JM - Giamaica 4
KZ - Kazakistan 4
NG - Nigeria 4
PT - Portogallo 4
AL - Albania 3
BG - Bulgaria 3
CU - Cuba 3
DO - Repubblica Dominicana 3
ET - Etiopia 3
HR - Croazia 3
KR - Corea 3
KW - Kuwait 3
LB - Libano 3
AM - Armenia 2
BA - Bosnia-Erzegovina 2
BH - Bahrain 2
BY - Bielorussia 2
CR - Costa Rica 2
DK - Danimarca 2
EE - Estonia 2
EU - Europa 2
GR - Grecia 2
LV - Lettonia 2
MQ - Martinica 2
MT - Malta 2
PA - Panama 2
PH - Filippine 2
PS - Palestinian Territory 2
RS - Serbia 2
TH - Thailandia 2
TT - Trinidad e Tobago 2
XK - ???statistics.table.value.countryCode.XK??? 2
AO - Angola 1
AT - Austria 1
BB - Barbados 1
BZ - Belize 1
CI - Costa d'Avorio 1
Totale 10.260
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Città #
San Jose 691
Singapore 436
Ashburn 300
Santa Clara 261
Chandler 245
Hefei 238
Bengaluru 237
Milan 228
Ho Chi Minh City 225
Lawrence 215
Princeton 215
Dallas 164
Hanoi 108
London 108
Beijing 99
Chicago 98
Wilmington 96
Des Moines 90
São Paulo 89
Ottawa 83
Catanzaro 45
Munich 44
Shanghai 44
Los Angeles 38
Rio de Janeiro 37
Redwood City 36
Hong Kong 34
Rome 30
Haiphong 28
New York 26
Guarulhos 24
Thái Bình 24
Da Nang 23
Biên Hòa 22
Melbourne 22
Redmond 22
Boardman 21
Norwalk 21
Guayaquil 20
Quito 19
Curitiba 18
Santiago 18
Guangzhou 17
Lima 17
Porto Alegre 17
Belo Horizonte 16
Catania 16
Jakarta 16
Nairobi 16
Brooklyn 14
Helsinki 14
Salvador 14
Brasília 13
Buenos Aires 13
Manaus 13
Naples 13
Ninh Bình 13
Perth 13
Phoenix 13
Chennai 12
Denver 12
Pune 12
San Francisco 12
Sydney 12
Warsaw 12
Asunción 11
Boston 11
Montevideo 11
Hyderabad 10
Manchester 10
Montreal 10
Bogotá 9
Boydton 9
Hải Dương 9
Orem 9
Palermo 9
Salt Lake City 9
São José 9
Thái Nguyên 9
Tokyo 9
Verona 9
Zhengzhou 9
Baghdad 8
Bathurst 8
Brisbane 8
Columbus 8
Council Bluffs 8
Dhaka 8
Lahore 8
Lấp Vò 8
Padova 8
Riobamba 8
San Nicola Manfredi 8
Sumaré 8
Toronto 8
Amman 7
Amsterdam 7
Atlanta 7
Campinas 7
Caracas 7
Totale 5.463
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Nome #
Management of croup in children 313
Facial Dysmorphisms, Macrodontia, Focal Epilepsy, and Thinning of the Corpus Callosum: A Rare Mild Form of Kabuki Syndrome 110
Anderson-Fabry disease in children: The importance of early diagnosis 104
RESISTANCE TO THYROID HORMONE DUE TO A NOVEL THR- MUTATION IN A PATIENT WITH THYROID AGENESIS 88
Diabete, ipotiroidismo e celiachia nella Sindrome di Down. Descrizione di un caso clinico 86
A 46,XY Female with a 9p24.3p24.1 Deletion and a 8q24.11q24.3 Duplication: A Case Report and Review of the Literature. 81
c.376A>G, (p.Ser126Gly) Alpha-Galactosidase A mutation induces ER stress, unfolded protein response and reduced enzyme trafficking to lysosome: Possible relevance in the pathogenesis of late-onset forms of Fabry Disease 80
Alport's syndrome 80
Early detection of podiatric anomalies in children with Down syndrome. (IF 2.073) 77
Nephrotic syndrome: immunological mechanisms 77
Cardiac involvement in Lysosomal Storage Diseases 76
The role of prebiotics and probiotics in Prevention of Allergic Diseases in Infants 75
Therapeutic afucosylated monoclonal antibody and bispecific T-cell engagers for T-cell acute lymphoblastic leukemia 75
Extreme hyperferritinemia in the pediatric emergency setting: haemophagocytic lymphohistiocytosis, macrophage activation syndrome, sepsis and more 73
Redefining the Pulvinar Sign in Fabry Disease. 73
Home treatment using agalsidase alfa among patients with Fabry disease in Italy 72
Monosymptomatic enuresis: the therapeutic weapons 72
Assessment of intrafamilial clinical variability of poikiloderma with neutropenia by a 10-year follow-up of three affected siblings. 70
Update on hyperuricemia in children / Inquadramento dell’iperuricemia in età pediatrica 68
Beneficial effects of slow-release large neutral amino acids after a phenylalanine oral load in patients with phenylketonuria 68
A mild form of Roberts/SC phocomelia syndrome with asymmetrical reduction of the upper limb. (IF 3.128) 66
Co-existence of Phenylketonuria and Fabry disease on a 3 year-old boy: case report 66
Cardiac defects in RASopathies: a review of genotype- phenotype correlations 66
Low FODMAPs diet for functional abdominal pain disorders in children: critical review of current knowledge. 65
Evolution of congenital hypothyroidism in a cohort of preterm born children 65
Oxidative stress biomarkers in Fabry disease: is there a room for them? 65
Gastrointestinal Symptoms of Patients with Fabry Disease 64
A novel mutation in a patient with insulin-like growth factor 1 (IGF1) deficiency. (IF 6.365) 63
Sindrome di Down: correlazione tra grado di malattia in età evolutiva e psicopatologia materna 62
Cardiovascular complications in children with chronic kidney injury 62
An overview of the main causes of neutropenia in childhood 61
A de novo 8q22.2-24.3 duplication in a patient with mild phenotype. 60
Familial pericentric inversion of chromosome 5 in a family with benign neonatal convulsions. (IF 6.365) 60
Screening for lysosomal diseases in a selected pediatric population: the case of Gaucher disease and acid sphingomyelinase deficiency 59
The Different Forms of Mucopolysaccharidosis with Neurological Involvement: A Case-Based Review 59
XII Congresso della Sezione Calabrese della Società Italiana di Pediatria, Crotone 22/10/1994 59
Cardiac malformations in children with congenital hypothyroidism 59
Brain and spine MRI features of Hunter disease: frequency, natural evolution and response to therapy 58
A mild form of Roberts/SC phocomelia syndrome with asymmetrical reduction of the upper limbs 58
Novel serum biomarkers for infection in paediatric emergency 57
17β-hydroxysteroid dehydrogenase-3 deficiency: from pregnancy to adolescence 57
Clericuzio type Poikiloderma with Neutropenia Syndrome in three sibs with mutations in the C16orf57 gene: Delineation of the Phenotype 57
La cardiomiopatia del figlio di madre diabetica 56
Gastrointestinal symptoms of patients with Fabry disease 55
GAPO syndrome associated with vestibular dysfunction and hearing loss 55
Una forma grave di tetrasomia 18p confermata con l’ibridazione in situ 55
Renal involvement in paediatric Fabry disease 55
Infective endocarditis in children: state of the art 54
Profile of idursulfase for the treatment of Hunter syndrome 54
Facing up to limits: a lesson from the Charlie Gard case.(IF 2.623) 54
The Cytoscan HD Array in the Diagnosis of Neurodevelopmental Disorders 53
New Strategies for the Treatment of Phenylketonuria (PKU) 53
Combination therapy in a patient with chronic neuronopathic Gaucher disease: a case report 53
Clinical efficacy of enzyme replacement therapy in paediatric Hunter patients, an independent study of 3.5 years. 53
Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy. (IF 3.157) 53
Benefits of a prolonged-release amino acid mixture in four pregnant women with phenylketonuria 52
GENETIC SUSCEPTIBILITY TO GASTROINTESTINAL SYMPTOMS IN FABRY DISEASE 52
Postinfectious Functional Gastrointestinal Disorders in Children: A Multicenter Prospective Study 52
Trisomia parziale 4q associata ad ipoplasia laringea ed atresia delle coane 52
Epilepsy, electroclinical features, and long-term outcomes in Pitt–Hopkins syndrome due to pathogenic variants in the TCF4 gene 52
GASTROINTESTINAL SYMPTOMS AND FABRY DISEASE 51
Genetic variants associated with Fabry disease progression despite enzyme replacement therapy 51
Neurological Involvement in Tetrahydrobiopterin Deficiency 50
Delezioni non contigue del cromosoma 22 associate a traslocazione sbilanciata in un soggetto con segni della sindrome di diGeorge/VCF 50
Congenital hypertrichosis, cardiomegaly and osteochondrodysplasia (Cantù syndrome): a new case with unusual radiological findings. (IF 2.391) 50
Unusual presentation of Henoch-Schönlein purpura 50
Erythematous eruption with linear vesciculation and eosinophilia at birth 50
Effectiveness and Safety of rhIGF-1 Therapy in Children: The European Increlex® Growth Forum Database Experience. 49
The heart in Anderson-Fabry disease 49
KBG syndrome: case report of a novel variant ANKR11 gene mutation and literature review. 48
The Neuronal Ceroid Lipofuscinoses: A Case-Based Overview 48
Genetic variants associated with gastrointestinal symptoms in Fabry disease. 48
Gelastic seizures not associated with hypothalamic hamartoma: A long-term follow-up study 48
Infectious diseases and metabolic emergencies in inborn errors of metabolism 48
Kawa-COVID-19 47
Cardiac involvement in MPS patients: incidence and response to therapy in an Italian multicentre study 47
Delphi consensus on the current clinical and therapeutic knowledge on Anderson-Fabry disease. 47
Partial duplication 8q22.2-q24.3 in a patient with congenital malformations and normal psychomotor development 47
Functional abdominal pain 47
Newborn with hypertelorism, small palpebral fissures and eyelid ptosis 47
Fabry disease and kidney involvement: starting from childhood to understand the future 47
Acid sphingomyelinase deficiency (ASMD): addressing knowledge gaps in unmet needs and patient journey in Italy-a Delphi consensus 46
Which cystography in the diagnosis and grading of vesicoureteral reflux? 46
MALATTIE GENETICHE: CLASSIFICAZIONE, PRINCIPI DIAGNOSTICI E APPROCCIO CLINICO 46
Valutazione dei livelli ematici di Vitamina B12, acido folico e ferro nella Sindrome di Down 46
Cow's Milk Protein Allergy in Infancy: A Risk Factor for Functional Gastrointestinal Disorders in Children? 46
Childhood Neurometabolic Disorders 46
Dopamine agonists in 6-pyruvoyl tetrahydropterin synthase deficiency 46
Delayed gastric emptyng: a novel gastrointestinal finding in Turner’s syndrome 46
DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy. (IF 11.183) 46
Long-term treatment of phenylketonuria with a new medical food containing large neutral amino acids.(IF 3.057) 46
Dilated cardiomyopathy in mucolipidosis type 2 46
Noninvasive quantitative ultrasound fatty liver evaluation of hepato‑renal index in pediatric patients using 3D‑slicer 45
Point of care lung ultrasound in preschool children with cystic fibrosis: a case-controlled, prospective, pilot study 45
Norrbottnian clinical variant of Gaucher disease in Southern Italy. 45
Hyperphenylalaninemia: From Diagnosis to Therapy 45
Electroclinical evolution in ring chromosome 20 epilepsy syndrome: a case with severe phenotypic features followed for 25 years 45
Anderson-Fabry Disease in children. 45
SEVERE EPILEPSY IN A PATIENT WITH PRADER-WILLI-SYNDROME DUE TO INVERSION-DUPLICATION OF CHROMOSOME 15Q11-Q13 - A CLINICAL NEUROPHYSIOLOGICAL, AND MOLECULAR-GENETIC STUDY 45
Werner syndrome: a rare mutation 45
Totale 6.014
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Categoria #
all - tutte 104.816
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 104.816
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202126 0 0 0 0 0 0 0 0 0 0 0 26
2021/2022618 26 16 19 110 48 16 26 114 66 54 119 4
2022/20231.309 448 7 43 73 112 81 46 94 155 89 100 61
2023/2024645 104 93 79 51 34 164 21 14 6 18 35 26
2024/20252.213 367 171 109 65 165 273 26 36 305 287 123 286
2025/20265.126 149 508 728 1.526 433 107 440 332 565 218 68 52
Totale 10.596