Associated Papers
Using Patient Feedback to Improve Treatment Outcomes for Patients with Congenital Dyserythropoietic Anaemia Type I Receiving Interferon Therapy.
Frey K et al.
Journal of Clinical Medicine, 2026
Real-world evaluation of gnomAD variant co-occurrence information for haplotype phasing in autosomal recessive disorders.
Kim J et al.
Human Genomics, 2025
41331868 (PubMed )
Supplement: 40246_2025_855_MOESM1_ESM.xlsx › Table_S1.
Immunological and genetic kinetics from diagnosis to clinical progression in chronic lymphocytic leukemia.
Jiménez I et al.
Biomarker Research, 2021
34016160 (PubMed )
Supplement: 40364_2021_290_MOESM1_ESM.zip › renamed_27ef3.xlsx › Suplementary_table_3
Genetic and functional insights into CDA-I prevalence and pathogenesis.
Olijnik AA et al.
Journal of Medical Genetics, 2021
The pathogenesis, diagnosis and management of congenital dyserythropoietic anaemia type I.
Roy NBA et al.
British Journal of Haematology, 2019
Fetal presentation of congenital dyserythropoietic anemia type 1 with novel compound heterozygous CDAN1 mutations.
Meznarich JA et al.
Blood Cells, Molecules & Diseases, 2018
Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes.
Muramatsu H et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Congenital dyserythropoietic anemia type I presenting as persistent pulmonary hypertension with pigeon chest deformity.
El-Sheikh AA et al.
Pediatric Blood & Cancer, 2014
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI_
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