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A Monogenic Disease with a Variety of Phenotypes: Deficiency of Adenosine Deaminase 2

Journal of rheumatology, 2020-01, Vol.47 (1), p.117-125

2020

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Macrophage activation syndrome in children with systemic juvenile idiopathic arthritis and systemic lupus erythematosus

Rheumatology international, 2016-10, Vol.36 (10), p.1421-1429

2016

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Central nervous system lesions in Fanconi anemia: Experience from a research center for Fanconi anemia patients

Pediatric blood & cancer, 2020-12, Vol.67 (12), p.e28722-n/a

2020

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MECOM-associated syndrome: a heterogeneous inherited bone marrow failure syndrome with amegakaryocytic thrombocytopenia

Blood advances, 2018-03, Vol.2 (6), p.586-596

2018

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Bleeding and non-bleeding phenotypes in patients with GGCX gene mutations

Thrombosis research, 2014-10, Vol.134 (4), p.856-865

2014

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Atypical combined immunodeficiency due to Artemis defect: A case presenting as hyperimmunoglobulin M syndrome and with LGLL

Molecular immunology, 2013-12, Vol.56 (4), p.354-357

2013

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Nocturnal enuresis in sickle cell disease and thalassemia major: associated factors in a clinical sample

International journal of hematology, 2013-10, Vol.98 (4), p.430-436

2013

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Case series of thromboembolic complications in childhood nephrotic syndrome: Hacettepe experience

Clinical and experimental nephrology, 2015-06, Vol.19 (3), p.506-513

2015

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Heavy metal levels in patients with ineffective erythropoiesis

Transfusion and apheresis science, 2017-08, Vol.56 (4), p.539-543

2017

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Refugee children with beta‐thalassemia in Turkey: Overview of demographic, socioeconomic, and medical characteristics

Pediatric blood & cancer, 2019-05, Vol.66 (5), p.e27636-n/a

2019

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Transcobalamin II Deficiency in Four Cases with Novel Mutations

Turkish journal of haematology, 2015-12, Vol.32 (4), p.317-322

2015

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Neonates born to mothers with immune thrombocytopenic purpura: a single-center experience of 20 years

Blood coagulation & fibrinolysis, 2016-01, Vol.27 (1), p.19-23

2016

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A novel mutation in protein C gene (PROC) causing severe phenotype in neonatal period

Pediatric blood & cancer, 2014-04, Vol.61 (4), p.763-764

2014

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Successful Outcome With Fludarabine-Based Conditioning Regimen for Hematopoietic Stem Cell Transplantation From Related Donor in Fanconi Anemia: A Single Center Experience From Turkey

Pediatric blood & cancer, 2016-04, Vol.63 (4), p.695-700

2016

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LAD-1/variant syndrome is caused by mutations in FERMT3

Blood, 2009-05, Vol.113 (19), p.4740-4746

2009

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Malignancy-associated hemophagocytic lymphohistiocytosis in pediatric cases: a multicenter study from Turkey

Turkish journal of pediatrics, 2009-05, Vol.51 (3), p.207-213

2009

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Effects of blood transfusion on cytokine profile and pulmonary function in patients with thalassemia major

The clinical respiratory journal, 2016-03, Vol.10 (2), p.153-162

2016

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Multi‐gene panel testing improves diagnosis and management of patients with hereditary anemias

American journal of hematology, 2018-05, Vol.93 (5), p.672-682

2018

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A randomized, placebo-controlled, double-blind trial of canakinumab in children and young adults with sickle cell anemia

Blood, 2022-04, Vol.139 (17), p.2642-2652

2022

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Dual-echo TFE MRI for the assessment of myocardial iron overload in beta-thalassemia major patients

Diagnostic and interventional radiology (Ankara, Turkey), 2010-03, Vol.16 (1), p.59-62

2010

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Diagnosis: Melanoderma after Hematopoietic Stem Cell Transplantation

Turkish journal of haematology, 2015-12, Vol.32 (4), p.378-379

2015

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A rare metabolic complication of acute lymphoblastic leukemia in childhood: lactic acidosis

Turkish journal of pediatrics, 2012-01, Vol.54 (1), p.61-63

2012

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Retrospective cohort study of 205 cases with congenital dyserythropoietic anemia type II: Definition of clinical and molecular spectrum and identification of new diagnostic scores

American journal of hematology, 2014-10, Vol.89 (10), p.E169-E175

2014

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Molecular Analyses of Pyruvate Kinase Deficient Turkish Patients from a Single Center

Pediatric hematology and oncology, 2015-07, Vol.32 (5), p.354-361

2015

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The role of vascular inflammation markers in deficiency of adenosine deaminase 2

Seminars in arthritis and rheumatism, 2021-08, Vol.51 (4), p.839-844

2021

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A Monogenic Disease with a Variety of Phenotypes: Deficiency of Adenosine Deaminase 2

Macrophage activation syndrome in children with systemic juvenile idiopathic arthritis and systemic lupus erythematosus

Central nervous system lesions in Fanconi anemia: Experience from a research center for Fanconi anemia patients

MECOM-associated syndrome: a heterogeneous inherited bone marrow failure syndrome with amegakaryocytic thrombocytopenia

Bleeding and non-bleeding phenotypes in patients with GGCX gene mutations

Atypical combined immunodeficiency due to Artemis defect: A case presenting as hyperimmunoglobulin M syndrome and with LGLL

Nocturnal enuresis in sickle cell disease and thalassemia major: associated factors in a clinical sample

Case series of thromboembolic complications in childhood nephrotic syndrome: Hacettepe experience

Heavy metal levels in patients with ineffective erythropoiesis

Refugee children with beta‐thalassemia in Turkey: Overview of demographic, socioeconomic, and medical characteristics

Transcobalamin II Deficiency in Four Cases with Novel Mutations

Neonates born to mothers with immune thrombocytopenic purpura: a single-center experience of 20 years

A novel mutation in protein C gene (PROC) causing severe phenotype in neonatal period

Successful Outcome With Fludarabine-Based Conditioning Regimen for Hematopoietic Stem Cell Transplantation From Related Donor in Fanconi Anemia: A Single Center Experience From Turkey

LAD-1/variant syndrome is caused by mutations in FERMT3

Malignancy-associated hemophagocytic lymphohistiocytosis in pediatric cases: a multicenter study from Turkey

Effects of blood transfusion on cytokine profile and pulmonary function in patients with thalassemia major

Multi‐gene panel testing improves diagnosis and management of patients with hereditary anemias

A randomized, placebo-controlled, double-blind trial of canakinumab in children and young adults with sickle cell anemia

Dual-echo TFE MRI for the assessment of myocardial iron overload in beta-thalassemia major patients

Diagnosis: Melanoderma after Hematopoietic Stem Cell Transplantation

A rare metabolic complication of acute lymphoblastic leukemia in childhood: lactic acidosis

Retrospective cohort study of 205 cases with congenital dyserythropoietic anemia type II: Definition of clinical and molecular spectrum and identification of new diagnostic scores

Molecular Analyses of Pyruvate Kinase Deficient Turkish Patients from a Single Center

The role of vascular inflammation markers in deficiency of adenosine deaminase 2

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