IRIS
CONCOLINO, DANIELA
 Distribuzione geografica
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Continente #
NA - Nord America 2.569
AS - Asia 2.131
EU - Europa 1.257
SA - Sud America 733
OC - Oceania 74
AF - Africa 64
Continente sconosciuto - Info sul continente non disponibili 9
Totale 6.837
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Nazione #
US - Stati Uniti d'America 2.389
SG - Singapore 1.039
IT - Italia 651
BR - Brasile 529
CN - Cina 493
VN - Vietnam 269
GB - Regno Unito 173
SE - Svezia 126
CA - Canada 122
AR - Argentina 67
AU - Australia 67
DE - Germania 66
IN - India 64
EC - Ecuador 57
UA - Ucraina 54
ID - Indonesia 50
IQ - Iraq 37
TR - Turchia 33
MX - Messico 31
CL - Cile 30
FR - Francia 30
BD - Bangladesh 23
NL - Olanda 22
FI - Finlandia 20
ES - Italia 19
PL - Polonia 19
RU - Federazione Russa 19
CO - Colombia 13
KE - Kenya 13
PE - Perù 13
TN - Tunisia 13
HK - Hong Kong 12
JP - Giappone 12
EG - Egitto 11
PK - Pakistan 11
SA - Arabia Saudita 11
CZ - Repubblica Ceca 10
RO - Romania 10
IR - Iran 9
OM - Oman 9
ZA - Sudafrica 9
MA - Marocco 8
TW - Taiwan 8
UY - Uruguay 8
VE - Venezuela 8
MY - Malesia 7
BE - Belgio 6
GT - Guatemala 6
IL - Israele 6
NP - Nepal 6
PY - Paraguay 6
A2 - ???statistics.table.value.countryCode.A2??? 5
CH - Svizzera 5
NZ - Nuova Zelanda 5
UZ - Uzbekistan 5
AE - Emirati Arabi Uniti 4
BS - Bahamas 4
HN - Honduras 4
IE - Irlanda 4
NG - Nigeria 4
PT - Portogallo 4
AL - Albania 3
CU - Cuba 3
JM - Giamaica 3
JO - Giordania 3
KR - Corea 3
LB - Libano 3
AZ - Azerbaigian 2
BG - Bulgaria 2
BO - Bolivia 2
CR - Costa Rica 2
DK - Danimarca 2
DO - Repubblica Dominicana 2
DZ - Algeria 2
EE - Estonia 2
EU - Europa 2
GR - Grecia 2
HR - Croazia 2
KZ - Kazakistan 2
LV - Lettonia 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
AT - Austria 1
BH - Bahrain 1
CI - Costa d'Avorio 1
ET - Etiopia 1
LK - Sri Lanka 1
MK - Macedonia 1
MN - Mongolia 1
PA - Panama 1
PW - Palau 1
QA - Qatar 1
SN - Senegal 1
TG - Togo 1
TV - Tuvalu 1
Totale 6.837
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Città #
Singapore 354
Santa Clara 246
Chandler 245
Hefei 238
Milan 227
Lawrence 215
Princeton 215
Dallas 162
Ho Chi Minh City 109
London 108
Chicago 96
Wilmington 96
Des Moines 90
Ottawa 83
Ashburn 70
Hanoi 50
Shanghai 44
São Paulo 44
Munich 43
Catanzaro 39
Redwood City 36
Los Angeles 28
Rome 27
Redmond 22
Beijing 21
Boardman 21
Melbourne 21
Norwalk 21
New York 18
Guangzhou 17
Quito 17
Rio de Janeiro 17
Santiago 17
Catania 15
Guarulhos 15
Brooklyn 14
Guayaquil 14
Helsinki 13
Nairobi 13
Curitiba 12
Denver 12
Jakarta 12
Lima 12
San Francisco 12
Thái Bình 12
Warsaw 12
Boston 11
Haiphong 11
Hong Kong 11
Naples 11
Pune 11
Hyderabad 10
Manaus 10
Porto Alegre 10
Sydney 10
Belo Horizonte 9
Biên Hòa 9
Manchester 9
Montreal 9
Palermo 9
Phoenix 9
Zhengzhou 9
Bathurst 8
Brisbane 8
Buenos Aires 8
Padova 8
Riobamba 8
San Nicola Manfredi 8
Tokyo 8
Verona 8
Atlanta 7
Bogotá 7
Chennai 7
Columbus 7
Da Nang 7
Jiaxing 7
Muscat 7
Ninh Bình 7
Pachino 7
Salt Lake City 7
Salvador 7
Toronto 7
Turku 7
Barcelona 6
Boydton 6
Council Bluffs 6
Dhaka 6
Lahore 6
Perth 6
Shenzhen 6
São José 6
Washington 6
West Jordan 6
Wuhan 6
Anaheim 5
Brasília 5
Cairo 5
Charlotte 5
Guatemala City 5
Maidstone 5
Totale 3.634
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Nome #
Management of croup in children 276
Anderson-Fabry disease in children: The importance of early diagnosis 87
Facial Dysmorphisms, Macrodontia, Focal Epilepsy, and Thinning of the Corpus Callosum: A Rare Mild Form of Kabuki Syndrome 85
RESISTANCE TO THYROID HORMONE DUE TO A NOVEL THR- MUTATION IN A PATIENT WITH THYROID AGENESIS 77
Nephrotic syndrome: immunological mechanisms 69
Redefining the Pulvinar Sign in Fabry Disease. 60
Monosymptomatic enuresis: the therapeutic weapons 60
Alport's syndrome 59
A 46,XY Female with a 9p24.3p24.1 Deletion and a 8q24.11q24.3 Duplication: A Case Report and Review of the Literature. 58
Therapeutic afucosylated monoclonal antibody and bispecific T-cell engagers for T-cell acute lymphoblastic leukemia 58
Extreme hyperferritinemia in the pediatric emergency setting: haemophagocytic lymphohistiocytosis, macrophage activation syndrome, sepsis and more 56
Diabete, ipotiroidismo e celiachia nella Sindrome di Down. Descrizione di un caso clinico 56
Cardiac involvement in Lysosomal Storage Diseases 56
Beneficial effects of slow-release large neutral amino acids after a phenylalanine oral load in patients with phenylketonuria 56
Low FODMAPs diet for functional abdominal pain disorders in children: critical review of current knowledge. 55
The role of prebiotics and probiotics in Prevention of Allergic Diseases in Infants 53
Early detection of podiatric anomalies in children with Down syndrome. (IF 2.073) 52
Sindrome di Down: correlazione tra grado di malattia in età evolutiva e psicopatologia materna 50
Assessment of intrafamilial clinical variability of poikiloderma with neutropenia by a 10-year follow-up of three affected siblings. 49
Home treatment using agalsidase alfa among patients with Fabry disease in Italy 49
Oxidative stress biomarkers in Fabry disease: is there a room for them? 49
Screening for lysosomal diseases in a selected pediatric population: the case of Gaucher disease and acid sphingomyelinase deficiency 47
A de novo 8q22.2-24.3 duplication in a patient with mild phenotype. 47
Cardiac defects in RASopathies: a review of genotype- phenotype correlations 47
Cardiac malformations in children with congenital hypothyroidism 46
Evolution of congenital hypothyroidism in a cohort of preterm born children 46
Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy. (IF 3.157) 46
Update on hyperuricemia in children / Inquadramento dell’iperuricemia in età pediatrica 45
Gastrointestinal Symptoms of Patients with Fabry Disease 45
Una forma grave di tetrasomia 18p confermata con l’ibridazione in situ 45
Cardiovascular complications in children with chronic kidney injury 45
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 44
An overview of the main causes of neutropenia in childhood 44
Novel serum biomarkers for infection in paediatric emergency 43
Co-existence of Phenylketonuria and Fabry disease on a 3 year-old boy: case report 42
La cardiomiopatia del figlio di madre diabetica 42
17β-hydroxysteroid dehydrogenase-3 deficiency: from pregnancy to adolescence 41
A mild form of Roberts/SC phocomelia syndrome with asymmetrical reduction of the upper limb. (IF 3.128) 41
Gastrointestinal symptoms of patients with Fabry disease 41
Profile of idursulfase for the treatment of Hunter syndrome 40
The Different Forms of Mucopolysaccharidosis with Neurological Involvement: A Case-Based Review 40
Renal involvement in paediatric Fabry disease 40
GENETIC SUSCEPTIBILITY TO GASTROINTESTINAL SYMPTOMS IN FABRY DISEASE 39
GASTROINTESTINAL SYMPTOMS AND FABRY DISEASE 39
MALATTIE GENETICHE: CLASSIFICAZIONE, PRINCIPI DIAGNOSTICI E APPROCCIO CLINICO 39
A novel mutation in a patient with insulin-like growth factor 1 (IGF1) deficiency. (IF 6.365) 39
New Strategies for the Treatment of Phenylketonuria (PKU) 38
Clericuzio type Poikiloderma with Neutropenia Syndrome in three sibs with mutations in the C16orf57 gene: Delineation of the Phenotype 38
Unusual presentation of Henoch-Schönlein purpura 38
Dilated cardiomyopathy in mucolipidosis type 2 38
Infective endocarditis in children: state of the art 37
XII Congresso della Sezione Calabrese della Società Italiana di Pediatria, Crotone 22/10/1994 37
Brain and spine MRI features of Hunter disease: frequency, natural evolution and response to therapy 37
Trisomia parziale 4q associata ad ipoplasia laringea ed atresia delle coane 36
Combination therapy in a patient with chronic neuronopathic Gaucher disease: a case report 36
Which cystography in the diagnosis and grading of vesicoureteral reflux? 35
Valutazione dei livelli ematici di Vitamina B12, acido folico e ferro nella Sindrome di Down 35
Anderson-Fabry Disease in children. 35
Delezioni non contigue del cromosoma 22 associate a traslocazione sbilanciata in un soggetto con segni della sindrome di diGeorge/VCF 35
GAPO syndrome associated with vestibular dysfunction and hearing loss 35
Congenital hypertrichosis, cardiomegaly and osteochondrodysplasia (Cantù syndrome): a new case with unusual radiological findings. (IF 2.391) 35
A mild form of Roberts/SC phocomelia syndrome with asymmetrical reduction of the upper limbs 35
RECURRENT ABDOMINAL PAIN AND FABRY DISEASE 34
Postinfectious Functional Gastrointestinal Disorders in Children: A Multicenter Prospective Study 34
Genetic variants associated with gastrointestinal symptoms in Fabry disease. 34
Facing up to limits: a lesson from the Charlie Gard case.(IF 2.623) 34
Congenital renal anomalies imaging: a valuable tool for pediatricians 34
Pediatric urolithiasis 34
Werner syndrome: a rare mutation 34
Esiste-il des indications pour la vidéo-chirurgie en oncologie pédiatrique? 33
Childhood Neurometabolic Disorders 33
Effectiveness and Safety of rhIGF-1 Therapy in Children: The European Increlex® Growth Forum Database Experience. 33
Benefits of a prolonged-release amino acid mixture in four pregnant women with phenylketonuria 32
Cardiac involvement in MPS patients: incidence and response to therapy in an Italian multicentre study 32
High seroprevalence of Helicobacter pylori infection in non-institutionalised children with mental retardation 32
Centric fission of chromosome 9 in a boy with trisomy 9p 32
The Cytoscan HD Array in the Diagnosis of Neurodevelopmental Disorders 32
Werner syndrome: a rare mutation 32
Cow's Milk Protein Allergy in Infancy: A Risk Factor for Functional Gastrointestinal Disorders in Children? 31
Neurological Involvement in Tetrahydrobiopterin Deficiency 31
Norrbottnian clinical variant of Gaucher disease in Southern Italy. 31
The Neuronal Ceroid Lipofuscinoses: A Case-Based Overview 31
Functional abdominal pain 31
Partial trisomy 7q22-q34 due to malsegregation of a complex chromosomal rearrangement involving five chromosomes in a girl with mental retardation and multiple congenital malformations 31
Clinical efficacy of enzyme replacement therapy in paediatric Hunter patients, an independent study of 3.5 years. 31
Newborn with hypertelorism, small palpebral fissures and eyelid ptosis 31
Fabry disease and kidney involvement: starting from childhood to understand the future 31
Kawa-COVID-19 30
KBG syndrome: case report of a novel variant ANKR11 gene mutation and literature review. 30
Composition and structure of glycosaminoglycans in DBS from 2-3-day-old newborns for the diagnosis of mucopolysaccharidosis 30
UNO’s (unbidentified neurofibromatosis object) e neurofibromatosi tipo 1 (NF1) : nuovo criterio maggiore di diagnosi 30
Familial pericentric inversion of chromosome 5 in a family with benign neonatal convulsions. (IF 6.365) 30
The heart in Anderson-Fabry disease 30
Genetic variants associated with Fabry disease progression despite enzyme replacement therapy 30
Point of care lung ultrasound in preschool children with cystic fibrosis: a case-controlled, prospective, pilot study 29
Acid sphingomyelinase deficiency (ASMD): addressing knowledge gaps in unmet needs and patient journey in Italy-a Delphi consensus 29
Laparoscopic management of the non-palpable testis: the evidence-based medicine (EBM) 29
Genetics and Gene Therapy in Hunter Disease 29
Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia gene. (IF 11.202) 29
Epilepsy, electroclinical features, and long-term outcomes in Pitt–Hopkins syndrome due to pathogenic variants in the TCF4 gene 29
Totale 4.315
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Categoria #
all - tutte 89.956
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 89.956
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021264 0 0 0 48 39 23 25 35 31 27 10 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
2025/20261.688 149 508 728 303 0 0 0 0 0 0 0 0
Totale 7.158