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1 . Academic Journal
Six novel variants in the PKLR gene associated with pyruvate kinase deficiency in Argentinian patients
저자
by
Milanesio, Berenice
;
Pepe, Carolina
;
Defelipe, Lucas A.
;
Eandi Eberle, Silvia
;
Avalos Gomez, Vanesa
, et al.
소스
In
Clinical Biochemistry
May 2021 91:26-30
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7 . Academic Journal
Two novel DNA variants associated with glucose-6-phosphate dehydrogenase deficiency found in Argentine pediatric patients
저자
by
Chaves, Alejandro
;
Eberle, Silvia Eandi
;
Defelipe, Lucas
;
Pepe, Carolina
;
Milanesio, Berenice
, et al.
소스
In
Clinical Biochemistry
July 2016 49(10-11):808-810
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7 . Academic Journal
Corrigendum to ‘Two novel DNA variants associated with glucose-6-phosphate dehydrogenase deficiency found in Argentine pediatric patients’ [Clin. Biochem. 49 (2016) 808–810]
저자
by
Chaves, Alejandro
;
Eandi Eberle, Silvia
;
Defelipe, Lucas
;
Pepe, Carolina
;
Milanesio, Berenice
, et al.
소스
In
Clinical Biochemistry
August 2018 58:131-131
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7 .
Glucose 6 phosphate dehydrogenase deficiency: Description of a novel and de novo variant associated with chronic nonspherocytic hemolytic anemia
저자
by
Chaves, Alejandro
;
Eandi Eberle, Silvia
;
Avalos Gomez, Vanesa
;
Milanesio, Berenice
;
Fernandez, Diego
, et al.
소스
In
Clinical Biochemistry
July 2020 81:63-64
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7 . Academic Journal
Hemoglobin San Martin: A New Unstable Variant Associated with Hemoglobin S in an Argentinean Boy.
저자
by
Feliu-Torres, Aurora
;
Eandi-Eberle, S.
;
Calvo, K.
;
Bragós, I.
;
Ojeda, M.
, et al.
소스
In
Blood
16 November 2007 110(11):3806-3806
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7 . Academic Journal
Von Willebrand Disease in Children: Diagnosis and Management of a Pediatric Cohort in One Single Center in Argentina
저자
by
Bonduel, Mariana
;
Frontroth, Juan Pablo
;
Hepner, Mirta
;
Sciuccati, Gabriela
;
Feliu-Torres, Aurora
, et al.
소스
Seminars in Thrombosis and Hemostasis
. Jul 01, 2011 37(5):560-567
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7 . Academic Journal
Hb S-San Martin: A New Sickling Hemoglobin With Two Amino Acid Substitutions [β6(A3)Glu→Val;β105(G7)Leu→Pro] In An Argentinean Family.
저자
by
Feliu-Torres, Aurora
;
Eberle, Silvia Eandi
;
Bragós, Irma M.
;
Sciuccati, Gabriela
;
Ojeda, Mara J.
, et al.
소스
Hemoglobin
. Oct2010, Vol. 34 Issue 5, p500-504. 5p. 1 Diagram, 1 Chart, 1 Graph.
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7 . Academic Journal
Hb Alesha [β67(E11)Val
→
Met, GTG
→
ATG] in an Argentinean Girl.
저자
by
Eandi Eberle, Silvia
;
Noguera, Nélida I.
;
Sciuccati, Gabriela
;
Bonduel, Mariana
;
Díaz, Lilian
, et al.
소스
Hemoglobin
. Aug2007, Vol. 31 Issue 3, p379-382. 4p.
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7 . Academic Journal
Hb Johnstown[β109(G11)Val→Leu]: a High Oxygen Affinity Variant Associated withβ0-Thalassemia.
저자
by
Feliu‐Torres, Aurora
;
Eberle, Silvia Eandi
;
Roldán, Ariel
;
González, Silvia
;
Sciuccati, Gabriela
.
소스
Hemoglobin
. Nov2004, Vol. 28 Issue 4, p335-338. 4p.
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7 . Academic Journal
A New β
0
Frameshift Mutation, HBB: c.44delT (p.Leu14ArgfsX5), Identified in an Argentinean Family Associated with Secondary Genetic Modifiers of β-Thalassemia.
저자
by
Pepe, Carolina
;
Eberle, Silvia Eandi
;
Chaves, Alejandro
;
Milanesio, Berenice
;
Aguirre, Fernando M.
, et al.
소스
Hemoglobin
. Dec2014, Vol. 38 Issue 6, p444-446. 3p.
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