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1دورية أكاديمية
المصدر: BMC Medical Genomics, Vol 14, Iss 1, Pp 1-7 (2021)
مصطلحات موضوعية: Adenylate kinase deficiency, Enzymopathies, Prenatal diagnosis, Congenital hemolytic anemia, Internal medicine, RC31-1245, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1755-8794
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2
المؤلفون: Rashmi Dongerdiye, Meghana Bokde, Tejashree Anil More, Arati Saptarshi, Rati Devendra, Ashish Chiddarwar, Prashant Warang, Prabhakar Kedar
المصدر: Annals of Hematology. 102:1029-1036
مصطلحات موضوعية: Hematology, General Medicine
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3دورية أكاديمية
المؤلفون: Prashant Warang, Prabhakar Kedar, S. Sivanandam, K. Jothilakshmi, R. Sumathi, Roshan Colah
المصدر: Molecular Genetics and Metabolism Reports, Vol 5, Iss C, Pp 44-47 (2015)
مصطلحات موضوعية: Recessive congenital methemoglobinemia (RCM), NADH-CYB5R, Neurological disorders, Molecular modeling, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
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4
المصدر: BMC Medical Genomics, Vol 14, Iss 1, Pp 1-7 (2021)
BMC Medical Genomicsمصطلحات موضوعية: Prenatal diagnosis, Adenylate kinase deficiency, Biology, QH426-470, medicine.disease_cause, Enzymopathies, Loss of heterozygosity, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, medicine, Genetics, Gene, Internal medicine, Genetics (clinical), Sanger sequencing, Mutation, Psychomotor retardation, Congenital hemolytic anemia, Anemia, Hemolytic, Congenital Nonspherocytic, medicine.disease, RC31-1245, genomic DNA, 030220 oncology & carcinogenesis, symbols, medicine.symptom, Research Article, 030215 immunology
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5
المصدر: Molecular genetics and genomics : MGG.
مصطلحات موضوعية: Genetics, General Medicine, Molecular Biology
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6
المؤلفون: B. Suresh, Rashmi Dongerdiye, Prabhakar Kedar, Sujatha Jagadeesh, Rati Devendra, Aruna Rajendran, Prashant Warang
المصدر: Journal of Clinical Pathology. 74:620-624
مصطلحات موضوعية: 0301 basic medicine, Genetics, Proband, Hexokinase, Mutation, Anemia, General Medicine, 030105 genetics & heredity, Biology, medicine.disease, medicine.disease_cause, Pathology and Forensic Medicine, 03 medical and health sciences, chemistry.chemical_compound, Hexokinase deficiency, 030104 developmental biology, chemistry, medicine, Glycolysis, Gene, Exome sequencing
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7
المصدر: Annals of Hematology. 99:715-727
مصطلحات موضوعية: Male, Models, Molecular, Hemolytic anemia, Congenital Anemia, Iron Overload, Adolescent, Protein Conformation, Hydrops Fetalis, Pyruvate Kinase, Mutation, Missense, India, Biology, Anemia, Hemolytic, Congenital, medicine.disease_cause, Ion Channels, Mice, Structure-Activity Relationship, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, medicine, Animals, Humans, Missense mutation, Computer Simulation, Amino Acid Sequence, Child, Genetic Association Studies, Genes, Dominant, Sanger sequencing, Genetics, Mutation, Anemia, Iron-Deficiency, Sequence Homology, Amino Acid, Genetic disorder, High-Throughput Nucleotide Sequencing, Hematology, General Medicine, medicine.disease, Child, Preschool, 030220 oncology & carcinogenesis, Mutation testing, symbols, Female, Sequence Alignment, Congenital hemolytic anemia, 030215 immunology
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8
المؤلفون: Prashant Warang, Prabhakar Kedar, Anuja Kulkarni, Rati Devendra, Ashish Chiddarwar, Vinod Gupta
المصدر: Human Mutation. 41:737-748
مصطلحات موضوعية: Models, Molecular, Genotype, Protein Conformation, CYB5R3, Genes, Recessive, Prenatal diagnosis, Disease, Biology, medicine.disease_cause, Methemoglobinemia, Structure-Activity Relationship, 03 medical and health sciences, Genetics, medicine, Humans, Genetic Predisposition to Disease, Gene, Alleles, Genetic Association Studies, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Mutation, Molecular pathology, 030305 genetics & heredity, medicine.disease, Phenotype, Amino Acid Substitution, Congenital Methemoglobinemia, Cytochrome-B(5) Reductase
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9
المؤلفون: Hideki Muramatsu, Prabhakar Kedar, Rashmi Dongerdiye, Manisha Madkaikar, Etsuro Ito, Seiji Kojima, Hideo Harigae, Yusuke Okuno, Prashant Warang, Tohru Fujiwara
المصدر: International Journal of Hematology. 110:618-626
مصطلحات موضوعية: Congenital Anemia, medicine.medical_specialty, Anemia, Hydrops Fetalis, Genetic counseling, Pyruvate Kinase, India, Pyruvate Metabolism, Inborn Errors, Anemia, Hemolytic, Congenital, Bioinformatics, hemic and lymphatic diseases, Internal medicine, Molecular genetics, Humans, Medicine, Genetic Testing, Glucose Phosphate Isomerase Deficiency, Anemia, Diamond-Blackfan, Genetic testing, Hematology, medicine.diagnostic_test, business.industry, Adenylate Kinase, Glucose-6-Phosphate Isomerase, High-Throughput Nucleotide Sequencing, Anemia, Hemolytic, Congenital Nonspherocytic, medicine.disease, Mutation, Cytokines, business, Pyruvate kinase deficiency
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10
المؤلفون: Ketaki Mhaskar, Ratna Sharma, Rashmi Dongerdiye, Mamta Manglani, Nilesh Wasekar, Prabhakar Kedar, Punit Jain, Manisha Madkaikar, Prashant Warang, Pranoti Kamat, Rati Devendra
المصدر: Journal of Clinical Pathology. 72:393-398
مصطلحات موضوعية: Adult, Male, Models, Molecular, 0301 basic medicine, Proband, Erythrocytes, Heredity, Protein Conformation, DNA Mutational Analysis, Mutation, Missense, India, Biology, medicine.disease_cause, DNA sequencing, Pathology and Forensic Medicine, Structure-Activity Relationship, 03 medical and health sciences, Exon, symbols.namesake, 0302 clinical medicine, medicine, Humans, Missense mutation, Genetic Predisposition to Disease, Child, Gene, Genetics, Sanger sequencing, Mutation, Red Cell, Adenylate Kinase, High-Throughput Nucleotide Sequencing, Anemia, Hemolytic, Congenital Nonspherocytic, General Medicine, Pedigree, Phenotype, 030104 developmental biology, 030220 oncology & carcinogenesis, symbols, Female