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1 . Academic Journal
ACTN1‐related thrombocytopenia: Homozygosity for an ACTN1 variant results in a more severe phenotype.
저자
by
Zanchetta, Melania Eva
;
Barozzi, Serena
;
Isidori, Federica
;
Marconi, Caterina
;
Farinasso, Loredana
, et al.
소스
British Journal of Haematology
. Jun2024, Vol. 204 Issue 6, p2453-2457. 5p.
Full Text (Wiley)
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7 . Academic Journal
Thrombocytopenia 4 (THC4): Six novel families with mutations of the cytochrome c gene.
저자
by
Marzollo, Antonio
;
Zampieri, Stefania
;
Barozzi, Serena
;
Yousaf, Muhammad Abrar
;
Quartararo, Jade
, et al.
소스
British Journal of Haematology
. May2024, p1. 10p. 3 Illustrations, 1 Chart.
Full Text (Wiley)
Web of Science
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7 . Academic Journal
GP1BB c.179C > T is the most frequent cause of monoallelic Bernard–Soulier syndrome in the Italian population after the Bolzano variant: a report of two new families.
저자
by
Barozzi, Serena
;
Pecci, Alessandro
;
Marinoni, Maddalena
;
Fontana, Giorgia
;
Zanchetta, Melania Eva
, et al.
소스
Annals of Hematology
. Mar2023, Vol. 102 Issue 3, p677-679. 3p.
Web of Science
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7 . Academic Journal
Spontaneous splenic rupture due to extramedullary haematopoiesis in a patient with inherited thrombocytopenia.
저자
by
Zaninetti, Carlo
;
Sacco, Clara
;
Rahal, Daoud
;
Barozzi, Serena
;
Balduini, Carlo L.
, et al.
소스
Blood Transfusion (17232007); May/Jun2021, Vol. 19 Issue 3, p257-260, 4p
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7 . Academic Journal
MYH9-related disease: Five novel mutations expanding the spectrum of causative mutations and confirming genotype/phenotype correlations
저자
by
De Rocco, Daniela
;
Zieger, Barbara
;
Platokouki, Helen
;
Heller, Paula G.
;
Pastore, Annalisa
, et al.
소스
In
European Journal of Medical Genetics
January 2013 56(1):7-12
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7 . Academic Journal
MYH9-Related Thrombocytopenia: Four Novel Variants Affecting the Tail Domain of the Non-Muscle Myosin Heavy Chain IIA Associated with a Mild Clinical Evolution of the Disorder.
저자
by
Zaninetti, Carlo
;
De Rocco, Daniela
;
Giangregorio, Tania
;
Bozzi, Valeria
;
Demeter, Judit
, et al.
소스
Hämostaseologie; 2019, Vol. 39 Issue 1, p87-94, 8p
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7 . Academic Journal
Eltrombopag in preparation for surgery in patients with severe MYH9‐related thrombocytopenia.
저자
by
Zaninetti, Carlo
;
Barozzi, Serena
;
Bozzi, Valeria
;
Gresele, Paolo
;
Balduini, Carlo L.
, et al.
소스
American Journal of Hematology; Aug2019, Vol. 94 Issue 8, pE199-E201, 3p
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7 . Academic Journal
Thrombopoietin mutation in congenital amegakaryocytic thrombocytopenia treatable with romiplostim.
저자
by
Pecci, Alessandro
;
Ragab, Iman
;
Bozzi, Valeria
;
De Rocco, Daniela
;
Barozzi, Serena
, et al.
소스
EMBO Molecular Medicine; Jan2018, Vol. 10 Issue 1, p63-75, 13p
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7 . Periodical
Loss-of-function mutations in PTPRJcause a new form of inherited thrombocytopenia
저자
by
Marconi, Caterina
;
Di Buduo, Christian A.
;
LeVine, Kellie
;
Barozzi, Serena
;
Faleschini, Michela
, et al.
소스
Blood; March 2019, Vol. 133 Issue: 12 p1346-1357, 12p
Full Text (ScienceDirect)
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7 . Periodical
Loss-of-function mutations in PTPRJ cause a new form of inherited thrombocytopenia
저자
by
Marconi, Caterina
;
Di Buduo, Christian A.
;
LeVine, Kellie
;
Barozzi, Serena
;
Faleschini, Michela
, et al.
소스
Blood; March 2019, Vol. 133 Issue: 12 p1346-1357, 12p
Full Text (ScienceDirect)
Full Text (ScienceDirect O/A)
Web of Science
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