IRIS
RUSMINI, MARTA
 Distribuzione geografica
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Continente #
EU - Europa 1.642
AS - Asia 97
SA - Sud America 16
NA - Nord America 4
AF - Africa 1
Totale 1.760
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Nazione #
IT - Italia 1.636
SG - Singapore 45
CN - Cina 24
VN - Vietnam 23
BR - Brasile 9
AR - Argentina 4
BD - Bangladesh 2
EC - Ecuador 2
HK - Hong Kong 2
MX - Messico 2
RO - Romania 2
AL - Albania 1
CO - Colombia 1
GT - Guatemala 1
IQ - Iraq 1
PL - Polonia 1
SK - Slovacchia (Repubblica Slovacca) 1
UA - Ucraina 1
US - Stati Uniti d'America 1
ZA - Sudafrica 1
Totale 1.760
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Città #
Genoa 684
Genova 565
Vado Ligure 222
Rapallo 156
Singapore 14
Beijing 11
Ho Chi Minh City 8
Bordighera 7
Hanoi 4
Haiphong 3
Córdoba 2
Hong Kong 2
Mexico City 2
Quito 2
Quảng Ngãi 2
Tezze sul Brenta 2
Avellaneda 1
Belo Horizonte 1
Biên Hòa 1
Brasília 1
Can Tho 1
Chongqing 1
Desterro 1
Guangzhou 1
Ha Long 1
Hải Dương 1
Johannesburg 1
José Bonifácio 1
Maiquinique 1
Montanhas 1
Orem 1
Pasto 1
Phủ Lý 1
Pinhais 1
Porto Alegre 1
Reşiţa 1
Slatina 1
Tirana 1
Trenčín 1
Trindade 1
Viedma 1
Warsaw 1
Totale 1.712
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Nome #
CD70 deficiency due to a novel mutation in a patient with severe chronic EBV infection presenting as a periodic fever 210
Variants of the ACTG2 gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo-obstruction. 174
ABCC6 mutations and early onset stroke: Two cases of a typical Pseudoxanthoma Elasticum 160
Next-generation sequencing and its initial applications for molecular diagnosis of systemic auto-inflammatory diseases 150
Expression variability and function of the RET gene in adult peripheral blood mononuclear cells 144
null 113
Next-generation sequencing workflow for NSCLC critical samples using a targeted sequencing approach by ion torrent PGM™ platform 112
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia 106
Allele-specific expression at the RET locus in blood and gut tissue of individuals carrying risk alleles for Hirschsprung disease 94
Impaired Mitochondrial Function and Marrow Failure in Patients Carrying a Variant of the SRSF4 Gene 90
Erratum: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia (Brain (2021) 144:5 (1422-1434) DOI: 10.1093/brain/awab041) 82
Type I interferon activation in RAS-associated autoimmune leukoproliferative disease (RALD) 82
Progression of non-hematologic manifestations in SAMD9L-associated autoinflammatory disease (SAAD) after hematopoietic stem cell transplantation 79
Sirolimus Restores Erythropoiesis and Controls Immune Dysregulation in a Child With Cartilage-Hair Hypoplasia: A Case Report 72
Erratum: Next generation sequencing panel in undifferentiated autoinflammatory diseases identifies patients with colchicine-responder recurrent fevers (Rheumatology (2020) 59 (344-60) DOI: 10.1093/rheumatology/kez270) 59
Correction: Induction of RET dependent and independent pro-inflammatory programs in human peripheral blood mononuclear cells from hirschsprung patients (PLoS ONE) 40
Editorial: Elucidation of the causes of human disease by multi-omics integration 27
Next generation sequencing panel in undifferentiated autoinflammatory diseases identify patients with colchicine-responder recurrent fevers 7
Totale 1.801
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Categoria #
all - tutte 7.036
article - articoli 7.036
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 14.072
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202146 0 0 0 0 0 0 13 12 5 7 5 4
2021/2022131 5 6 14 11 6 9 3 29 5 16 8 19
2022/2023186 13 21 6 20 30 28 4 11 26 0 25 2
2023/2024150 12 18 3 19 12 32 5 8 7 7 8 19
2024/2025578 20 29 30 32 77 58 80 118 32 13 45 44
2025/2026295 96 8 31 50 99 11 0 0 0 0 0 0
Totale 1.801