IRIS
DE FILIPPI, PAOLA
 Distribuzione geografica
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Continente #
NA - Nord America 624
EU - Europa 424
AS - Asia 241
OC - Oceania 2
AF - Africa 1
SA - Sud America 1
Totale 1.293
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Nazione #
US - Stati Uniti d'America 622
CN - Cina 231
IE - Irlanda 155
UA - Ucraina 70
FI - Finlandia 51
DE - Germania 48
SE - Svezia 27
IT - Italia 24
GB - Regno Unito 23
BE - Belgio 14
FR - Francia 9
SG - Singapore 8
AU - Australia 2
CA - Canada 2
EE - Estonia 2
JP - Giappone 2
BR - Brasile 1
MA - Marocco 1
NL - Olanda 1
Totale 1.293
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Città #
Chandler 158
Dublin 155
Jacksonville 85
Nanjing 68
Ann Arbor 66
Ashburn 46
New York 40
Nanchang 27
Princeton 21
Beijing 20
Jiaxing 20
Lawrence 20
Boardman 19
Medford 19
Shenyang 18
Shanghai 17
Hebei 16
Helsinki 15
Brussels 14
Wilmington 14
Changsha 12
Hangzhou 11
Woodbridge 11
Pavia 9
Tianjin 9
Milan 7
Singapore 7
Norwalk 6
Verona 6
Fairfield 4
Munich 4
Kunming 3
Bergamo 2
Berlin 2
Fuzhou 2
Tallinn 2
Tokyo 2
Amsterdam 1
Canberra 1
Changchun 1
Des Moines 1
Fes 1
Frankfurt am Main 1
Glace Bay 1
Guangzhou 1
Jinan 1
Landau 1
Lanzhou 1
Los Angeles 1
Piscataway 1
San Francisco 1
Seattle 1
Sydney 1
São Paulo 1
Taizhou 1
Toronto 1
Zhengzhou 1
Totale 977
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Nome #
The strange case of the lost NRAS mutation in a child with juvenile myelomonocytic leukemia. 94
A Chaperone Enhances Blood α-Glucosidase Activity in Pompe Disease Patients Treated With Enzyme Replacement Therapy. 82
Different outcomes of allogeneic hematopoietic stem cell transplant in a pair of twins affected by juvenile myelomonocytic leukemia. 80
Familial clustering of unexplained transient respiratory distress in 12 newborns from three unrelated families suggests an autosomal-recessive inheritance. 72
FAMILIAL PARTIAL MONOSOMY 7 AND MYELODYSPLASIA: DIFFERENT PARENTAL ORIGIN OF THE 7 INVOLVED SUGGESTS THE ACTION OF A MUTATOR GENE 72
JAK2 V617F mutation is a rare event in juvenile myelomonocytic leukemia 71
Dietary treatment in adult-onset type II glycogenosis. 69
Abnormal cell surface antigen expression in individuals with variant CD45 splicing and histiocytosis. 67
Specific polymorphisms of cytokine genes are associated with different risks to develop single-system or multi-system childhood Langerhans cell histiocytosis 66
Familial myelodysplastic syndromed, monosomy 7/trisomy 8, and mutator effects. 64
Recombinant alpha-glucosidase in adult-onset type II glycogenosis: The experience with the first Italian patient, from expanded access programmes to marketing authorization 63
Deletion of PAX9 and oligodontia: a third family and review of the literature. 62
Ptosis as a feature of late-onset glycogenosis type II. 62
Changes in nutritional status and body composition during enzyme replacementtherapy in adult-onset type II glycogenosis. 62
Can genes influencing muscle function affect the therapeutic response to enzyme replacement therapy (ERT) in late-onset Type II Glycogenosis? 47
Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment 43
Mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia: A report from the italian AIEOP study group 43
Genetic heterogeneity in autosomal dominant otosclerosis: Exclusion of linkage to four known loci in an Italian family 42
Genotype-phenotype correlation in Pompe disease, a step forward. 41
Bioimpedance Phase Angle as a Prognostic Tool in Late-Onset Pompe Disease: A Single-Centre Prospective Study With a 15-year Follow-Up 37
Late-onset Pompe disease: a genetic-radiological correlation on cerebral vascular anomalies 29
Late-onset Pompe disease (LOPD): May axial myopathy influence respiratory dysfunction? 25
Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD) 20
Totale 1.313
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Categoria #
all - tutte 4.689
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 4.689
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020277 76 110 0 15 2 13 7 14 1 21 18 0
2020/2021148 21 13 4 17 2 16 4 23 4 21 19 4
2021/2022104 3 3 1 3 3 0 4 9 3 5 16 54
2022/2023438 48 35 23 27 46 43 0 16 176 7 11 6
2023/2024178 16 25 3 8 9 80 1 16 1 2 8 9
2024/202511 11 0 0 0 0 0 0 0 0 0 0 0
Totale 1.313