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1دورية أكاديمية
المؤلفون: Sheela Nampoothiri, Dhanya Yesodharan, Amrita Bhattacherjee, Hisham Ahamed, Ratna Dua Puri, Neerja Gupta, Madhulika Kabra, Prajnya Ranganath, Meenakshi Bhat, Shubha Phadke, Akella Radha Rama Devi, Sujatha Jagadeesh, Sumita Danda, Padmavathy Narayana Sylaja, Kausik Mandal, Sunita Bijarnia‐Mahay, Ravinder Makkar, Ishwar Chander Verma, Ashwin Dalal, Uma Ramaswami
المصدر: JIMD Reports, Vol 56, Iss 1, Pp 82-94 (2020)
مصطلحات موضوعية: chronic renal failure, Fabry disease, GLA mutation, hypertrophic cardiomyopathy, late onset, stroke, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2192-8312
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2دورية أكاديمية
المؤلفون: Hiasindh Ashmi Antony, Vrushali Pathak, Subhash Chandra Parija, Kanjaksha Ghosh, Amrita Bhattacherjee
المصدر: Genomics Data, Vol 8, Iss C, Pp 110-112 (2016)
مصطلحات موضوعية: Next generation sequencing, Malaria, Plasmodium falciparum, Chloroquine resistance, Transcriptomics, Genetics, QH426-470
وصف الملف: electronic resource
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3
المؤلفون: Ashwin Dalal, Amrita Bhattacherjee, Elyska Desa, KaisarAhmad Lone, Arjita Jaiswal, Shweta Tyagi
المصدر: Indian Journal of Medical Research.
مصطلحات موضوعية: General Medicine, General Biochemistry, Genetics and Molecular Biology
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4
المؤلفون: Usha R. Dutta, Amrita Bhattacherjee, Ashish Bahal, Laxmi P. Posanapally, Kaisar A. Lone, Siddardha Bathula, Ashwin Dalal
المصدر: Molecular Syndromology. 13:370-380
مصطلحات موضوعية: Genetics, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b374fd89563d59948a0c57f7bfda7aaf
https://doi.org/10.1159/000522011 -
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المؤلفون: Amrita Bhattacherjee, Sugata Sanyal, Ajith Abraham
المصدر: Innovations in Bio-Inspired Computing and Applications ISBN: 9783030962982
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::7cbe646445dec2ab833520bf71bc3d3c
https://doi.org/10.1007/978-3-030-96299-9_33 -
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المؤلفون: Sumita Danda, Ishwar Chander Verma, Neerja Gupta, Ravinder Makkar, Prajnya Ranganath, Hisham Ahamed, Ashwin Dalal, Meenakshi Bhat, Madhulika Kabra, Uma Ramaswami, Sunita Bijarnia-Mahay, Akella Radha Rama Devi, Amrita Bhattacherjee, Ratna Dua Puri, Shubha R. Phadke, Sheela Nampoothiri, Dhanya Yesodharan, Sujatha Jagadeesh, Kausik Mandal, Padmavathy Narayana Sylaja
المصدر: JIMD Reports, Vol 56, Iss 1, Pp 82-94 (2020)
JIMD Reportsمصطلحات موضوعية: Research Report, medicine.medical_specialty, lcsh:QH426-470, Endocrinology, Diabetes and Metabolism, Left ventricular hypertrophy, lcsh:Diseases of the endocrine glands. Clinical endocrinology, Biochemistry, Genetics and Molecular Biology (miscellaneous), chronic renal failure, Internal medicine, Genotype, Internal Medicine, Medicine, late onset, Stroke, GLA mutation, Fabry disease, lcsh:RC648-665, business.industry, Hypertrophic cardiomyopathy, Research Reports, Enzyme replacement therapy, hypertrophic cardiomyopathy, medicine.disease, stroke, lcsh:Genetics, Neuropathic pain, Cohort, business
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7
المؤلفون: Sathish K. Ramaswamy, Aneek Das Bhowmik, Vijaya Kumar Pidugu, Ashwin Dalal, Sudha N. Rao, Usha R. Dutta, V.S. Vineeth, Amrita Bhattacherjee, Kumar Gautam Singh
المصدر: Genomics. 111:1108-1114
مصطلحات موضوعية: 0106 biological sciences, Positional cloning, Chromosomes, Human, Pair 20, Chromosome Disorders, Chromosomal translocation, Computational biology, Biology, 01 natural sciences, Genome, Translocation, Genetic, Chromosome Breakpoints, 03 medical and health sciences, Genetics, Humans, Genetic Testing, Sodium-Coupled Vitamin C Transporters, Gene, 030304 developmental biology, Whole genome sequencing, Chromosomes, Human, X, 0303 health sciences, Tumor Suppressor Proteins, Breakpoint, Intron, Sequence Analysis, DNA, Child, Preschool, Female, Nanopore sequencing, Rho Guanine Nucleotide Exchange Factors, 010606 plant biology & botany
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8
المؤلفون: Ashwani Tandon, Dhanya Lakshmi Narayanan, Shagun Aggarwal, Aneek Das Bhowmik, V.S. Vineeth, Aditya D. Kulkarni, Amrita Bhattacherjee, Ashwin Dalal
المصدر: Prenatal diagnosisREFERENCES. 40(2)
مصطلحات موضوعية: 0301 basic medicine, Prioritization, 030105 genetics & heredity, Bioinformatics, Congenital Abnormalities, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Fetus, Prenatal Diagnosis, Exome Sequencing, Medicine, Humans, Mendelian disorders, Genetics (clinical), Exome sequencing, Genetic Association Studies, Retrospective Studies, 030219 obstetrics & reproductive medicine, business.industry, Obstetrics and Gynecology, Phenotype, Cohort, Etiology, Mendelian inheritance, symbols, Autopsy, business
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المؤلفون: Shagun Aggarwal, Karthik Bharadwaj Tallapaka, Aneek Das Bhowmik, Ashwin Dalal, Amrita Bhattacherjee
مصطلحات موضوعية: Fetus, Pregnancy, Pediatrics, medicine.medical_specialty, Fetal dna, business.industry, Autopsy, medicine.disease, Leber congenital amaurosis, Novel Insights from Clinical Practice, Genetics, medicine, Sibling, Meckel syndrome, business, Genetics (clinical), Exome sequencing
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e975247cce3ba951c2eed25463c823c
https://europepmc.org/articles/PMC6528073/ -
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المصدر: Gene Reports. 16:100437
مصطلحات موضوعية: 0301 basic medicine, Genetics, Sanger sequencing, Pseudogene, Mucopolysaccharidosis, In silico, Mucopolysaccharidosis VII, Biology, medicine.disease, 03 medical and health sciences, symbols.namesake, Exon, 030104 developmental biology, 0302 clinical medicine, 030220 oncology & carcinogenesis, medicine, symbols, Missense mutation, Gene