IRIS
RUSMINI, MARTA
 Distribuzione geografica
Salva come PNG Salva come JPEG
Continente #
EU - Europa 1.032
Totale 1.032
Salva come PNG Salva come JPEG
Nazione #
IT - Italia 1.032
Totale 1.032
Salva come PNG Salva come JPEG
Città #
Genova 565
Genoa 176
Rapallo 156
Vado Ligure 128
Bordighera 7
Totale 1.032
Salva come PNG Salva come JPEG
Nome #
CD70 deficiency due to a novel mutation in a patient with severe chronic EBV infection presenting as a periodic fever 141
Variants of the ACTG2 gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo-obstruction. 136
Next-generation sequencing and its initial applications for molecular diagnosis of systemic auto-inflammatory diseases 119
Expression variability and function of the RET gene in adult peripheral blood mononuclear cells 118
ABCC6 mutations and early onset stroke: Two cases of a typical Pseudoxanthoma Elasticum 108
Allele-specific expression at the RET locus in blood and gut tissue of individuals carrying risk alleles for Hirschsprung disease 67
Next generation sequencing panel in undifferentiated autoinflammatory diseases identify patients with colchicine-responder recurrent fevers 65
Next-generation sequencing workflow for NSCLC critical samples using a targeted sequencing approach by ion torrent PGM™ platform 62
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia 58
Progression of non-hematologic manifestations in SAMD9L-associated autoinflammatory disease (SAAD) after hematopoietic stem cell transplantation 42
Type I interferon activation in RAS-associated autoimmune leukoproliferative disease (RALD) 37
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) 32
Erratum: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia (Brain (2021) 144:5 (1422-1434) DOI: 10.1093/brain/awab041) 27
Sirolimus Restores Erythropoiesis and Controls Immune Dysregulation in a Child With Cartilage-Hair Hypoplasia: A Case Report 25
Impaired Mitochondrial Function and Marrow Failure in Patients Carrying a Variant of the SRSF4 Gene 24
Correction: Induction of RET dependent and independent pro-inflammatory programs in human peripheral blood mononuclear cells from hirschsprung patients (PLoS ONE) 10
Totale 1.071
Salva come PNG Salva come JPEG
Categoria #
all - tutte 4.600
article - articoli 4.600
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 9.200
Salva come PNG Salva come JPEG


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020181 0 0 0 0 14 20 35 21 30 31 25 5
2020/202174 5 3 5 12 3 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
2024/2025143 20 29 30 32 32 0 0 0 0 0 0 0
Totale 1.071