IRIS
MELIS, DANIELA
 Distribuzione geografica
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Continente #
AS - Asia 2.185
EU - Europa 1.964
NA - Nord America 1.856
SA - Sud America 343
AF - Africa 78
OC - Oceania 3
Continente sconosciuto - Info sul continente non disponibili 2
Totale 6.431
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Nazione #
US - Stati Uniti d'America 1.783
SG - Singapore 1.168
RU - Federazione Russa 1.026
CN - Cina 521
BR - Brasile 286
IT - Italia 273
DE - Germania 186
HK - Hong Kong 164
VN - Vietnam 156
NL - Olanda 109
FI - Finlandia 97
GB - Regno Unito 64
IN - India 51
CA - Canada 48
FR - Francia 44
UA - Ucraina 41
IE - Irlanda 38
CI - Costa d'Avorio 35
ZA - Sudafrica 24
AR - Argentina 22
BD - Bangladesh 20
KR - Corea 19
MX - Messico 18
SE - Svezia 18
ES - Italia 17
PL - Polonia 14
JP - Giappone 12
BE - Belgio 10
EC - Ecuador 9
TR - Turchia 9
ID - Indonesia 8
AT - Austria 7
IQ - Iraq 7
UZ - Uzbekistan 7
VE - Venezuela 7
CO - Colombia 6
IL - Israele 6
PK - Pakistan 6
CL - Cile 5
DZ - Algeria 5
LT - Lituania 5
IR - Iran 4
MA - Marocco 4
AE - Emirati Arabi Uniti 3
KE - Kenya 3
RO - Romania 3
TH - Thailandia 3
AU - Australia 2
BO - Bolivia 2
EG - Egitto 2
JM - Giamaica 2
JO - Giordania 2
KG - Kirghizistan 2
KZ - Kazakistan 2
LB - Libano 2
LV - Lettonia 2
MY - Malesia 2
NP - Nepal 2
SA - Arabia Saudita 2
UY - Uruguay 2
AO - Angola 1
AZ - Azerbaigian 1
BH - Bahrain 1
BN - Brunei Darussalam 1
BW - Botswana 1
CH - Svizzera 1
CR - Costa Rica 1
CW - ???statistics.table.value.countryCode.CW??? 1
CZ - Repubblica Ceca 1
DM - Dominica 1
ET - Etiopia 1
GN - Guinea 1
GR - Grecia 1
GY - Guiana 1
HN - Honduras 1
HU - Ungheria 1
KI - Kiribati 1
LU - Lussemburgo 1
MD - Moldavia 1
MK - Macedonia 1
NI - Nicaragua 1
OM - Oman 1
PA - Panama 1
PE - Perù 1
PH - Filippine 1
PT - Portogallo 1
PY - Paraguay 1
SI - Slovenia 1
SK - Slovacchia (Repubblica Slovacca) 1
SR - Suriname 1
TJ - Tagikistan 1
TL - Timor Orientale 1
XK - ???statistics.table.value.countryCode.XK??? 1
ZW - Zimbabwe 1
Totale 6.431
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Città #
Singapore 528
Moscow 242
Chandler 212
Ashburn 202
Hong Kong 164
Beijing 157
Santa Clara 130
Hefei 100
Amsterdam 85
Naples 64
Ho Chi Minh City 62
Los Angeles 59
Munich 59
Millbury 50
Jacksonville 44
San Jose 42
Princeton 41
Nanjing 37
Boston 36
Buffalo 35
São Paulo 34
Turku 29
Houston 27
Napoli 27
New York 27
Hanoi 26
Helsinki 24
Dallas 19
Falkenstein 19
Des Moines 18
Seoul 18
Wilmington 18
Redondo Beach 17
Brooklyn 16
Montreal 16
The Dalles 16
Chicago 15
Frankfurt am Main 15
Ottawa 15
Seattle 15
Chennai 14
Nanchang 13
Denver 12
London 12
Tokyo 12
Phoenix 11
Rio de Janeiro 11
Augusta 10
Johannesburg 10
Orem 10
Rome 10
Stockholm 10
Warsaw 10
Atlanta 9
Lawrence 9
Haiphong 8
Manchester 8
Mexico City 8
Nuremberg 8
Poplar 8
Pune 8
San Francisco 8
San Mateo 8
Da Nang 7
Milan 7
Mumbai 7
Paris 7
Tashkent 7
Tianjin 7
Brussels 6
Buenos Aires 6
Cagliari 6
Council Bluffs 6
Dearborn 6
Genova 6
Jiaxing 6
Kronberg 6
Shenyang 6
Ann Arbor 5
Biên Hòa 5
Bragança Paulista 5
Campinas 5
Can Tho 5
Catania 5
Charlotte 5
Curitiba 5
Düsseldorf 5
Washington 5
Ankara 4
Boardman 4
Brasília 4
Cape Town 4
Changsha 4
Columbus 4
Dhaka 4
Dublin 4
Falls Church 4
Guayaquil 4
Joinville 4
Kochi 4
Totale 3.181
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Nome #
Diagnostic issues faced by a rare disease healthcare network during Covid-19 outbreak: data from the Campania Rare Disease Registry 162
Sulfur amino acids in Cushing's disease: insight in homocysteine and taurine levels in patients with active and cured disease 145
The 17β-hydroxysteroid dehydrogenase type 3 deficiency: a case report of an 18-year patient and review of the literature. 144
Sindrome di Gorlin: possibilità di una diagnosi precoce in bambini con macrocrania ? 142
Brain damage in glycogen storage disease type I 136
Complex chromosomal rearrangements causing Langer-Giedion syndrome atypical phenotype: Genotype-phenotype correlation and literature review. 132
Cutting edge: Increased autoimmunity risk in glycogen storage disease type 1b is associated with a reduced engagement of glycolysis in T Cells and an impaired regulatory T Cell function 129
Aumentata prevalenza di osteoporosi nei pazienti con neurofibromatosi tipo 1 126
Mulibrey nanism: Two novel mutations in a child identified by Array CGH and DNA sequencing 126
Constitutional chromothripsis involving the critical region of 9q21.13 microdeletion syndrome 125
Severe impact of late diagnosis of congenital adrenal hyperplasia on gender identity, sexual orientation and function: case report and review of the literature 124
Efficacy of ACE-inhibitor therapy on renal disease in glycogen storage disease type 1: a multicentre retrospective study. 124
Genotype/phenotype correlation in glycogen storage disease type 1b: a multicentre study and review of the literature. 119
Medullary unidentified bright objects in Neurofibromatosis type 1: A case series 119
Glycogen storage disease type Ia (GSDIa) but not Glycogen storage disease type Ib (GSDIb) is associated to an increased risk of metabolic syndrome: possible role of microsomal glucose 6-phosphate accumulation. 117
A new familial case of spondylo-epi-metaphyseal dysplasia with multiple dislocations Hall type (leptodactylic form). 115
Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature 112
Clinical Description of a Patient Carrying the Smallest Reported Deletion Involving 10p14 Region 112
Alterations in metabolic patterns have a key role in diagnosis and progression of primrose syndrome 112
Myasthenia gravis in a patient affected by glycogen storage disease type Ib: A further manifestation of an increased risk for autoimmune disorders? 111
Variegated silencing of a large Xq region causes hypomelanosis of Ito phenotype in a case of balanced X;2 translocation. 111
Good cognitive performances in a child with Prader-Willi syndrome. 111
New insights in the interpretation of array-CGH: Autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants 108
Fulminant autoimmune hepatitis in a girl with 22q13 deletion syndrome: a previously unreported association 105
Plasma acylcarnitines and urine organic acids profiles provide evidence for possible mitochondrial dysfunction in glycogen storage disease type Ia 105
Variegated silencing throughepigenetic modifications of a large Xq region in a case of balanced X;2translocation with Incontinentia Pigmenti-like phenotype 101
Vitamin E supplementation improves neutropenia and reduces the frequency of infections in patients with glycogen storage disease type I b 100
Olfactory bulb enlargement in neurofibromatosis type 1: report of a novel finding 99
Inattivazione sbilanciata di un cromosoma X derivato di una paziente con monosomia Xq28 99
Sensorineural Hearing Loss in a Patient Affected by Congenital Cytomegalovirus Infection: Is It Useful to Identify Comorbid Pathologies? 98
RASopathies and hemostatic abnormalities: key role of platelet dysfunction 97
Nephrolithiasis in Cushing's disease: prevalence, etiopathogenesis, and modification after disease cure 97
Selective cognitive impairment and tall stature due to chromosome 19 supernumerary ring. 96
Effect of long-term GH treatment in a patient with CHARGE association 96
Mitochondrial reprogramming in peripheral blood mononuclear cells of patients with glycogen storage disease type Ia 93
Involvement of endocrine system in a patient affected by glycogen storage disease 1b: speculation on the role of autoimmunity 93
Risk of autoimmune diseases in patients with RASopathies: systematic study of humoral and cellular immunity 92
Bone metabolism in patients with type 1 neurofibromatosis: key role of sun exposure and physical activity 91
Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants 90
Evaluation of circulating levels and renal clearance of natural amino acids in patients with Cushing's disease 89
Cerebrovascular stenosis in neurofibromatosis type 1 and utility of magnetic resonance angiography: our experience and literature review 89
Enhancing cyst-like lesions of the white matter in tuberous sclerosis complex: a novel neuroradiological finding 88
Trisomy 18 and hypertrophy cardiomyopathy in an 18-year-old woman. 88
Hepatic Presentation of Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD): Case Report and Systematic Review 88
Etanercept as a successful therapy in autoinflammatory syndrome related to TRNT1 mutations: a case-based review. 88
Infantile systemic hyalinosis: an atypical milder form. 86
Identification of two novel splice-site mutations in CHD7 gene in two patients with classical and atypical CHARGE syndrome phenotype 84
Isoform-specific NF1 mRNA levels correlate with disease severity in Neurofibromatosis type 1 84
Increased prevalence of thyroid autoimmunity and hypothyroidism in patients with glycogen storage disease type I 83
Varianti polimorfiche della regione 11q25:difficoltà di interpretazione dei risultati della array CGH. 83
Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2 gene 83
The growth hormone-insulin-like growth factor axis in glycogen storage disease type 1: evidence of different growth patterns and insulin-like growth factor levels in patients with glycogen storage disease type 1a and 1b. 80
A Restricted Spectrum of Mutations in the SMAD4 Tumor-Suppressor Gene Underlies Myhre Syndrome. 79
A specific serum lipid signature characterises patients with glycogen storage disease type Ia 78
Clinical variability of neurofibromatosis 1: A modifying role of cooccurring PTPN11 variants and atypical brain MRI findings 77
Endocrine involvement in hepatic glycogen storage diseases: pathophysiology and implications for care 76
Progression of renal damage in glycogen storage disease type I is associated to hyperlipidemia: a multicenter prospective Italian study 74
Clinical report of a brain magnetic resonance imaging finding in Noonan syndrome 73
DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies 73
An emerging phenotype of proximal 11q deletions. 70
Impaired bone metabolism in glycogen storage disease type 1 is associated with poor metabolic control in type 1a and with granulocyte colony-stimulating factor therapy in type 1b. 70
Vitamin E improves clinical outcome of patients affected by glycogen storage disease type Ib 70
Immunological Aspects of Kabuki Syndrome: A Retrospective Multicenter Study of the Italian Primary Immunodeficiency Network (IPINet) 68
Prevalence, Type, and Molecular Spectrum of NF1 Mutations in Patients with Neurofibromatosis Type 1 and Congenital Heart Disease 67
A novel homozygous mutation in the SLCO2A1 gene causing pachydermoperiostosis: Efficacy of hydroxychloroquine treatment 67
Cardiac valve disease: an unreported feature in Ehlers Danlos syndrome arthrocalasia type? 62
Multiomics approach provides insight into altered choline metabolism and liver injury in patients with glycogen storage disease type Ia 29
Totale 6.560
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Categoria #
all - tutte 22.064
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 22.064
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202158 0 0 0 0 0 0 7 0 9 1 36 5
2021/2022298 3 0 1 5 2 9 1 9 39 39 71 119
2022/2023502 55 37 16 40 53 50 15 49 69 84 25 9
2023/2024382 24 68 35 31 25 47 6 58 5 8 50 25
2024/20252.137 84 80 10 37 82 145 196 139 111 215 878 160
2025/20262.690 466 303 427 466 802 182 44 0 0 0 0 0
Totale 6.560