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1 . Academic Journal
P1472: COINHERITANCE OF PIEZO1 VARIANTS AND MULTI-LOCUS RED BLOOD CELL DEFECTS ACCOUNT FOR THE SYMPTOMATIC PHENOTYPE IN BETA-THALASSEMIA CARRIERS.
저자
by
Valeria Maria Pinto
;
Roberta Russo
;
Sabrina Quintino
;
Barbara Eleni Rosato
;
Roberta Marra
, et al.
소스
HemaSphere, Vol 7, p e8562808 (2023)
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7 . Academic Journal
One gene, two opposite phenotypes: a case report of hereditary anemia due to a loss-of-function variant in the EPAS1 gene
저자
by
Barbara Eleni Rosato
;
Roberta Marra
;
Federica Del Giudice
;
Antonella Nostroso
;
Simona Gobbi
, et al.
소스
Haematologica, Vol 108, Iss 10 (2023)
Open Access (DOAJ)
Web of Science
Scopus
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7 . Academic Journal
Clinical exome-based panel testing for medically actionable secondary findings in a cohort of 383 Italian participants
저자
by
Stefania Martone
;
Autilia Tommasina Buonagura
;
Roberta Marra
;
Barbara Eleni Rosato
;
Federica Del Giudice
, et al.
소스
Frontiers in Genetics, Vol 13 (2022)
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7 . Academic Journal
SEC23B Loss-of-Function Suppresses Hepcidin Expression by Impairing Glycosylation Pathway in Human Hepatic Cells
저자
by
Barbara Eleni Rosato
;
Roberta Marra
;
Vanessa D’Onofrio
;
Federica Del Giudice
;
Simone Della Monica
, et al.
소스
International Journal of Molecular Sciences, Vol 23, Iss 3, p 1304 (2022)
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7 .
One gene, two opposite phenotypes: a case report of hereditary anemia due to a loss-offunction variant in the EPAS1 gene
저자
by
Barbara Eleni Rosato
;
Roberta Marra
;
Federica Del Giudice
;
Antonella Nostroso
;
Simona Gobbi
, et al.
소스
Haematologica
.
Open Access (OpenAIRE)
Scopus
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7 .
Coinheritance of PIEZO1 variants and multi‐locus red blood cell defects account for the symptomatic phenotype in beta‐thalassemia carriers
저자
by
Valeria Maria Pinto
;
Roberta Russo
;
Sabrina Quintino
;
Barbara Eleni Rosato
;
Roberta Marra
, et al.
소스
American Journal of Hematology
. 98
Full Text (Wiley)
Scopus
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7 .
PIEZO1
mutations impact on early clinical manifestations of myelodysplastic syndromes
저자
by
Enrico Attardi
;
Immacolata Andolfo
;
Roberta Russo
;
Lucia Tiberi
;
Marco Gabriele Raddi
, et al.
소스
American Journal of Hematology
. 98
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Scopus
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7 .
Riscontro occasionale di pseudoaneurisma della fibrosa mitro-aortica mediante ecocardiografia: presentazione di un caso clinico
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by
Federica del Giudice
;
Sergio del Giudice
.
소스
Cardiologia Ambulatoriale
. :230-233
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4 .
Riscontro occasionale di un aneurisma coronarico gigante mediante eco-cardiografia transtoracica: presentazione di un caso clinico
저자
by
Sergio del Giudice
;
Federica del Giudice
.
소스
Cardiologia Ambulatoriale
. :52-56
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4 .
Difetto del setto interatriale tipo ostium primum di nuovo riscontro nell’adulto: presentazione di un caso clinico
저자
by
Sergio del Giudice
;
Federica del Giudice
.
소스
Cardiologia Ambulatoriale
.
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