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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
العلاقة: https://doaj.org/toc/2192-8312Test
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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
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3061559a80a32447797f36ae406873edTest
https://doi.org/10.1002/jmd2.12156Test -
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المؤلفون: Prajnya Ranganath, A.S. Babu, Katta M. Girisha, Ratna Dua Puri, Shubha R. Phadke, J. Md Nurul Jain, Sheela Nampoothiri, Mohandas Nair, A.Q. Hasan, Kanishk Prasad, Kalpana Gowrishankar, Seema Kapoor, V.H. Sankar, Sumita Danda, Shagun Aggarwal, Kausik Mandal, Anusha Uttarilli, Ashwin Dalal, I. C. Verma, Meenakshi Bhat, Divya Matta
المصدر: Clinical Genetics. 90:496-508
مصطلحات موضوعية: 0301 basic medicine, Genetics, congenital, hereditary, and neonatal diseases and abnormalities, business.industry, nutritional and metabolic diseases, Hunter syndrome, medicine.disease, Frameshift mutation, 03 medical and health sciences, Mucopolysaccharidosis type I, 030104 developmental biology, 0302 clinical medicine, Mucopolysaccharidosis I, medicine, Missense mutation, Mucopolysaccharidosis type II, skin and connective tissue diseases, Hurler syndrome, business, Iduronidase, 030217 neurology & neurosurgery, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::98967e019aeca5e01f3a4105dcb3507dTest
https://doi.org/10.1111/cge.12795Test -
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المؤلفون: Sankar V. Hariharan, Kalpana Gowrishankar, M. L. Kulkarni, Anju Shukla, Kavitha Mohanasundaram, Ashwin Dalal, Meenakshi Bhat, Sumita Danda, Anju Gupta, A. Radha Ramadevi, Shubha R. Phadke, Shagun Aggarwal, Katta M. Girisha, Prajnya Ranganath, Akhil Muralidhar Kulkarni, Gandham SriLakshmi Bhavani, Hitesh Shah, Neerja Gupta, Sunita Bijarnia-Mahay, Madhulika Kabra, Sankaralingam Rajeswari, Ratna Dua Puri, Sheela Nampoothiri
المصدر: American Journal of Medical Genetics Part A. 167:2481-2484
مصطلحات موضوعية: Adult, Cartilage, Articular, Male, Heterozygote, Adolescent, Gene Expression, India, Biology, CCN Intercellular Signaling Proteins, Text mining, Genetics, Humans, Atypical phenotype, Family, Genetics (clinical), business.industry, Homozygote, Exons, Introns, Phenotype, Amino Acid Substitution, Mutation, Female, Joint Diseases, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd88dbcc0bd3993164135243f7a5c78aTest
https://doi.org/10.1002/ajmg.a.37164Test -
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المؤلفون: Akella Radha Rama Devi, Prajnya Ranganath, V.H. Sankar, Sumita Danda, Shubha R. Phadke, Siddaramappa J. Patil, Ishwar C. Verma, Kalpana Gowrishankar, Katta M. Girisha, Neerja Gupta, Kausik Mandal, Shagun Aggarwal, Ratna Dua Puri, Jamal Mohammed Nurul Jain, Preetha Tilak, Madhulika Kabra, Parag M Tamhankar, Gandham SriLakshmi Bhavani, Ashwin Dalal, Savita Wangnekar, Divya Matta, Meenakshi Bhat
المصدر: American Journal of Medical Genetics Part A. 173:829-829
مصطلحات موضوعية: 0301 basic medicine, Genetics, Asian Indian, Biology, medicine.disease, 03 medical and health sciences, 030104 developmental biology, medicine, Acid sphingomyelinase, SMPD1 Gene, Niemann–Pick disease, Genetics (clinical), medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::2550424942175f8cf4b61f9412e434d5Test
https://doi.org/10.1002/ajmg.a.38040Test