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Publications by E Maragoudaki
CLINICAL AND HEMATOLOGICAL PHENOTYPE IN 9 FAMILIES WITH THE RARE Β-Gene C>G MUTATION AT Nt POSITION 6 3′ TO THE TERMINATION CODON. 119
Pediatric Research
Child Health
Pediatrics
Perinatology
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Diagnostic Pitfall in PCR-Based -Thalassemia Genotyping Resulting From a (G->c) Polymorphism at Nucleotide 71 3' to the 2-Globin Gene Termination Codon
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A Start Codon Mutation of the TSPAN12 Gene in Chinese Families Causes Clinical Heterogeneous Familial Exudative Vitreoretinopathy
Molecular genetics & genomic medicine
Genetics
Molecular Biology
Identification of a Novel Mutation in the Β-Globin Gene 3′ Untranslated Region [+1,506 (A>C)] in a Japanese Male With a Heterozygous Β-Thalassemia Phenotype
Hemoglobin
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Clinical Biochemistry
Hematology
Premature Termination Codon Mutations in the Von Willebrand Factor Gene Are Associated With Allele-Specific and Position-Dependent mRNA Decay
Haematologica
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Rare TACI Mutation in a 3-Year-Old Boy With CVID Phenotype
Frontiers in Pediatrics
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A Premature-Termination Mutation in the Mus Musculus Cyclin-Dependent Kinase 3 Gene
Proceedings of the National Academy of Sciences of the United States of America
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Mutations at Codon 974 of the DPYD Gene Are a Rare Event
British Journal of Cancer
Cancer Research
Oncology
Phenotype and Prognosis of the Lamin a/C Gene (LMNA) Mutation Carriers in Japan
Circulation Journal
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Cardiovascular Medicine
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Β-Thalassemia Mutation at Codon 37 (TGG>>TGA) Detected in a Turkish Family
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