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1 . Academic Journal
Targeted re-sequencing in pediatric and perinatal stroke
저자
by
G, Amico
;
L, Banov
;
V, Capra
;
R, Caorsi
;
F, Caroli
, et al.
소스
In
European Journal of Medical Genetics
November 2020 63(11)
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7 . Academic Journal
Impaired Mitochondrial Function and Marrow Failure in Patients Carrying a Variant of the SRSF4 Gene.
저자
by
Miano, Maurizio
;
Bertola, Nadia
;
Grossi, Alice
;
Dell'Orso, Gianluca
;
Regis, Stefano
, et al.
소스
International Journal of Molecular Sciences
. Feb2024, Vol. 25 Issue 4, p2083. 13p.
Web of Science
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7 . Academic Journal
Type I interferon activation in RAS-associated autoimmune leukoproliferative disease (RALD)
저자
by
Papa, Riccardo
;
Rusmini, Marta
;
Schena, Francesca
;
Traggiai, Elisabetta
;
Coccia, Maria Cristina
, et al.
소스
In
Clinical Immunology
October 2021 231
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7 . Academic Journal
Editorial: Elucidation of the causes of human disease by multi-omics integration.
저자
by
Rusmini, Marta
;
Lantieri, Francesca
.
소스
Frontiers in Genetics; 2023, p01-03, 3p
Web of Science
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4 . Academic Journal
Exploration of Tools for the Interpretation of Human Non-Coding Variants.
저자
by
Tabarini, Nicole
;
Biagi, Elena
;
Uva, Paolo
;
Iovino, Emanuela
;
Pippucci, Tommaso
, et al.
소스
International Journal of Molecular Sciences
. Nov2022, Vol. 23 Issue 21, p12977. 23p.
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7 . Academic Journal
Sirolimus Restores Erythropoiesis and Controls Immune Dysregulation in a Child With Cartilage-Hair Hypoplasia: A Case Report.
저자
by
Del Borrello, Giovanni
;
Miano, Maurizio
;
Micalizzi, Concetta
;
Lupia, Michela
;
Ceccherini, Isabella
, et al.
소스
Frontiers in Immunology; 5/19/2022, Vol. 13, p1-6, 6p
Web of Science
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7 . Academic Journal
Progression of non‐hematologic manifestations in SAMD9L‐associated autoinflammatory disease (SAAD) after hematopoietic stem cell transplantation.
저자
by
Papa, Riccardo
;
Rusmini, Marta
;
Volpi, Stefano
;
Dell'Orso, Gianluca
;
Giarratana, Maria Carla
, et al.
소스
Pediatric Allergy & Immunology
. Jan2022, Vol. 33 Issue 1, p1-4. 4p.
Web of Science
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7 . Academic Journal
P756: IMPAIRED MITOCHONDRIAL FUNCTION AND MARROW FAILURE IN PATIENTS CARRYING A MUTATION ON SRSF4 GENE.
저자
by
Miano, Maurizio
;
Bertola, Nadia
;
Grossi, Alice
;
Dell’orso, Gianluca
;
Regis, Stefano
, et al.
소스
HemaSphere; 2023 Supplement 3, Vol. 7, p1-2, 2p
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7 . Academic Journal
A complementary study approach unravels novel players in the pathoetiology of Hirschsprung disease.
저자
by
Mederer, Tanja
;
Schmitteckert, Stefanie
;
Volz, Julia
;
Martínez, Cristina
;
Röth, Ralph
, et al.
소스
PLoS Genetics
. 11/5/2020, Vol. 16 Issue 11, p1-20. 20p.
Scopus
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7 . Academic Journal
Next generation sequencing panel in undifferentiated autoinflammatory diseases identifies patients with colchicine-responder recurrent fevers.
저자
by
Papa, Riccardo
;
Rusmini, Marta
;
Volpi, Stefano
;
Caorsi, Roberta
;
Picco, Paolo
, et al.
소스
Rheumatology
. Feb2020, Vol. 59 Issue 2, p344-360. 17p. 2 Diagrams, 2 Charts, 2 Graphs.
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