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1دورية أكاديمية
المصدر: Italian Journal of Pediatrics, Vol 49, Iss 1, Pp 1-9 (2023)
مصطلحات موضوعية: Congenital dyserythropoietic anemia, High-resolution melting curve, Sanger sequencing, Pediatrics, RJ1-570
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1824-7288
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المؤلفون: Rashmi, Dongerdiye, Sujatha, Jagadeesh, Beena, Suresh, Aruna, Rajendran, Rati, Devendra, Prashant, Warang, Prabhakar S, Kedar
المصدر: Journal of clinical pathology. 74(10)
مصطلحات موضوعية: Adult, Male, Anemia, Hemolytic, Heredity, Developmental Disabilities, DNA Mutational Analysis, Homozygote, Age Factors, Mutation, Missense, High-Throughput Nucleotide Sequencing, India, Severity of Illness Index, Pedigree, Young Adult, Child Development, Phenotype, Child, Preschool, Hexokinase, Exome Sequencing, Humans, Female, Genetic Predisposition to Disease
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5Congenital methemoglobinemia due to NADH-methemoglobin reductase deficiency in three Indian families
المؤلفون: Prabhakar S, Kedar, Roshan B, Colah, Kanjaksha, Ghosh, Dipika, Mohanty
المصدر: Haematologia. 32(4)
مصطلحات موضوعية: Cyanosis, Male, Heterozygote, Phenotype, Humans, India, Infant, Female, Genes, Recessive, Child, Methemoglobinemia, Cytochrome-B(5) Reductase
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::8abfafe1209c1875b5efc28e1d22b896
https://pubmed.ncbi.nlm.nih.gov/12803131 -
6دورية أكاديمية
المؤلفون: Prabhakar S. Kedar, Anita H. Nadkarni, Supriya Phanasgoankar, Manisha Madkaikar, Kanjaksha Ghosh, Ajit C. Gorakshakar, Roshan B. Colah, Dipika Mohanty
المصدر: American Journal of Hematology; Jun2005, Vol. 79 Issue 2, p168-170, 3p