A stepwise diagnostic approach for undiagnosed Anemia in children: A model for low-middle income country

Expanding spectrum of DADA2: a review of phenotypes, genetics, pathogenesis and treatment

(2021) Benzeeta Pinto et al.   CLINICAL RHEUMATOLOGY

Targeted Next Generation Sequencing and Diagnosis of Congenital Hemolytic Anemias: A Three Years Experience Monocentric Study

(2021) Elisa Fermo et al.   Frontiers in Physiology

How will next generation sequencing (NGS) improve the diagnosis of congenital hemolytic anemia?

(2020) Paola Bianchi et al.   Annals of Translational Medicine

Special pre- and posttransplant considerations in inherited bone marrow failure and hematopoietic malignancy predisposition syndromes

(2020) Carmem Bonfim   Hematology-American Society of Hematology Education Program

Genetics and Genomics Approaches for Diagnosis and Research Into Hereditary Anemias

(2020) Roberta Russo et al.   Frontiers in Physiology

Safety and Efficacy of Mitapivat in Pyruvate Kinase Deficiency

(2019) Rachael F. Grace et al.   NEW ENGLAND JOURNAL OF MEDICINE

Outcome of haematopoietic stem cell transplantation in dyskeratosis congenita

(2018) Francesca Fioredda et al.   BRITISH JOURNAL OF HAEMATOLOGY

The Top 25 Laboratory Tests by Volume and Revenue in Five Different Countries

(2018) Susan Horton et al.   AMERICAN JOURNAL OF CLINICAL PATHOLOGY

Vitamin B12 deficiency

(2017) Ralph Green et al.   Nature Reviews Disease Primers

A novel 33-Gene targeted resequencing panel provides accurate, clinical-grade diagnosis and improves patient management for rare inherited anaemias

(2016) Noémi B. A. Roy et al.   BRITISH JOURNAL OF HAEMATOLOGY

Erythrocyte pyruvate kinase deficiency: 2015 status report

(2015) Rachael F. Grace et al.   AMERICAN JOURNAL OF HEMATOLOGY

Dehydrated hereditary stomatocytosis masquerading as MDS

(2015) M. Paessler et al.   BLOOD

Partial pyruvate kinase deficiency aggravates the phenotypic expression of band 3 deficiency in a family with hereditary spherocytosis

(2014) Rob van Zwieten et al.   AMERICAN JOURNAL OF HEMATOLOGY

Rare hereditary red blood cell enzymopathies associated with hemolytic anemia - pathophysiology, clinical aspects, and laboratory diagnosis

(2014) P. Koralkova et al.   International Journal of Laboratory Hematology

Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach

(2011) Belinda Giardine et al.   NATURE GENETICS

What are RBC-transfusion-dependence and -independence?

(2010) R.P. Gale et al.   LEUKEMIA RESEARCH

Prevention of Hemoglobinopathies in Egypt

(2009) Amal El-Beshlawy et al.   HEMOGLOBIN