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1 . Academic Journal
Late‐onset and long‐lasting neutropenias in the young: A new entity anticipating immune‐dysregulation disorders.
저자
by
Fioredda, F.
;
Beccaria, A.
;
Casartelli, P.
;
Turrini, E.
;
Contratto, C.
, et al.
소스
American Journal of Hematology; Apr2024, Vol. 99 Issue 4, p534-542, 9p
Full Text (Wiley)
Web of Science
Scopus
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7 . Academic Journal
Whole genome sequencing in ROHHAD trios proved inconclusive: what's beyond?
저자
by
Grossi, A.
;
Rusmini, M.
;
Cusano, R.
;
Massidda, M.
;
Santamaria, G.
, et al.
소스
Frontiers in Genetics; 2023, p1-9, 9p
Web of Science
Scopus
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7 .
Thrombotic thrombocytopenic purpura and defective apoptosis due to CASP8/10 mutations: the role of mycophenolate mofetil
저자
by
Fioredda, F.
;
Cappelli, E.
;
Mariani, A.
;
Beccaria, A.
;
Palmisani, E.
, et al.
소스
In
Blood Advances
12 November 2019 3(21):3432-3435
Full Text (ScienceDirect)
Full Text (Clinical Key)
Full Text (ScienceDirect O/A)
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7 . Academic Journal
Widening the Neuroimaging Features of Adenosine Deaminase 2 Deficiency.
저자
by
Geraldo, A. F.
;
Caorsi, R.
;
Tortora, D.
;
Gandolfo, C.
;
Ammendola, R.
, et al.
소스
American Journal of Neuroradiology; May2021, Vol. 42 Issue 5, p975-979, 5p
Web of Science
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7 . Academic Journal
Novel spondyloepimetaphyseal dysplasia due to
UFSP2
gene mutation.
저자
by
Di Rocco, M.
;
Rusmini, M.
;
Caroli, F.
;
Madeo, A.
;
Bertamino, M.
, et al.
소스
Clinical Genetics
. Mar2018, Vol. 93 Issue 3, p671-674. 5p. 1 Black and White Photograph, 1 Diagram.
Web of Science
Scopus
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7 . Academic Journal
Novel spondyloepimetaphyseal dysplasia due to UFSP2 gene mutation
저자
by
Di Rocco, M.
;
Rusmini, M.
;
Caroli, F.
;
Madeo, A.
;
Bertamino, M.
, et al.
소스
Clinical Genetics
. Mar 01, 2018 93(3):671-674
Web of Science
Scopus
JCR 저널정보
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7 .
Expanding the clinical and neuroimaging features of post-varicella arteriopathy of childhood
저자
by
Bertamino, M.
;
Signa, S.
;
Veneruso, M.
;
Prato, G.
;
Caorsi, R.
, et al.
소스
Journal of Neurology
. 268:4846-4865
Web of Science
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7 . Academic Journal
P810: BONE MARROW FAILURE IN PATIENTS CARRYING VARIANTS ON CARD11 GENE.
저자
by
Beccaria, A.
;
Grossi, A.
;
Fioredda, F.
;
Lanciotti, M.
;
Palmisani, E.
, et al.
소스
HemaSphere; 2022 Supplement 3, Vol. 6, p704-705, 2p
Full Text (LWW)
Open Access (Wiley)
Web of Science
Scopus
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7 . Academic Journal
Autoinflammation in pyoderma gangrenosum and its syndromic form (pyoderma gangrenosum, acne and suppurative hidradenitis).
저자
by
Marzano, A.V.
;
Damiani, G.
;
Ceccherini, I.
;
Berti, E.
;
Gattorno, M.
, et al.
소스
British Journal of Dermatology
. Jun2017, Vol. 176 Issue 6, p1588-1598. 11p.
Full Text (OUP)
Web of Science
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7 . Book
The Molecular Genetics of Hirschsprung's Disease.
저자
by
Holschneider, Alexander Matthias
;
Puri, Prem
;
Lantieri, F.
;
Griseri, P.
;
Amiel, J.
, et al.
소스
Hirschsprung's Disease & Allied Disorders; 2008, p63-78, 16p
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