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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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2دورية أكاديميةMolecular and clinical profiling in a large cohort of Asian Indians with glycogen storage disorders.
المؤلفون: Tejashwini Vittal Kumar, Meenakshi Bhat, Sanjeeva Ghanti Narayanachar, Vinu Narayan, Ambika K Srikanth, Swathi Anikar, Swathi Shetty
المصدر: PLoS ONE, Vol 17, Iss 7, p e0270373 (2022)
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1932-6203Test
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3دورية أكاديمية
المؤلفون: Jeevana Praharsha Athota, Meenakshi Bhat, Sheela Nampoothiri, Kalpana Gowrishankar, Sanjeeva Ghanti Narayanachar, Vinuth Puttamallesh, Mohammed Oomer Farooque, Swathi Shetty
المصدر: BMC Medical Genetics, Vol 21, Iss 1, Pp 1-10 (2020)
مصطلحات موضوعية: Noonan syndrome, PTPN11, Mutational analysis, Congenital heart defects, SHP-2, RASopathy, Internal medicine, RC31-1245, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s12881-020-0986-5Test; https://doaj.org/toc/1471-2350Test
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4دورية أكاديمية
المؤلفون: C Shivaleela, S Lakshmi Prabha, Meenakshi Bhat, K Jayaram, KL Harshal
المصدر: International Journal of Anatomy Radiology and Surgery, Vol 10, Iss 2, Pp AO25-AO27 (2021)
مصطلحات موضوعية: chromosomal studies, cytogenetic studies, infertility, Medical physics. Medical radiology. Nuclear medicine, R895-920, Surgery, RD1-811
وصف الملف: electronic resource
العلاقة: http://www.ijars.net/articles/PDF/2637/45369_CETest[Ra1]_F(SHU)_PF1(ShG_SHU)_PFA_NC(SHU)_PN(SHU).pdf; https://doaj.org/toc/2277-8543Test; https://doaj.org/toc/2455-6874Test
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5دورية أكاديمية
المؤلفون: Juby Mathew, Sujatha M. Jagadeesh, Meenakshi Bhat, S. Udhaya Kumar, Saravanamuthu Thiyagarajan, Sudha Srinivasan
المصدر: Molecular Genetics and Metabolism Reports, Vol 4, Iss C, Pp 53-61 (2015)
مصطلحات موضوعية: Mucopolysaccharidosis VI (MPS VI), Maroteaux–Lamy syndrome, Arylsulfatase B (ARSB), Inborn error of metabolism (IEM), Lysosomal storage disorder (LSD), Lysosomal enzyme, Mutations, India, Active site, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S221442691530015XTest; https://doaj.org/toc/2214-4269Test
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المؤلفون: Kruti Varshney, Sanjeeva Ghanti Narayanachar, Katta M Girisha, Gandham SriLakshmi Bhavani, Dhanyalakshmi Narayanan, Shubha Phadke, Sheela Nampoothiri, Gautham Arunachal Udupi, Palany Raghupathy, Mohandas Nair, Thenral S Geetha, Meenakshi Bhat
المصدر: Journal of Medical Genetics. 60:204-211
مصطلحات موضوعية: Genetics, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c9020691abc9d65ebac0afd2e0289ddTest
https://doi.org/10.1136/jmedgenet-2021-108098Test -
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المؤلفون: Dhanashree Kanago, Meenakshi Bhat, Sanjeeva Gn, Vinu Narayan, Kruti Varshney, Nivedita Rao, Monisha Morris
المصدر: Journal of Genetic Counseling
مصطلحات موضوعية: medicine.medical_specialty, media_common.quotation_subject, Genetic counseling, education, Developing country, India, Genetic Counseling, Telehealth, Unit (housing), Pandemic, medicine, Service Delivery, Humans, telegenetics, Pandemics, Genetics (clinical), media_common, Genetic services, business.industry, Special Issue, SARS-CoV-2, developing country, COVID-19, Payment, Telemedicine, Family medicine, Scale (social sciences), Communicable Disease Control, Videoconferencing, The Internet, business, Psychology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83c2f55513280979eb6788d8e116e9e2Test
http://europepmc.org/articles/PMC8657350Test -
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المؤلفون: Madhulika Kabra, Ratna Dua Puri, Ishwar C. Verma, Sheela Nampoothiri, Katta M. Girisha, Neerja Gupta, Ishpreet K. Biji, Priya S. Kishnani, Mamta N. Muranjan, Sujatha Jagadeesh, N Vinu, Jyotsna Verma, Jayarekha Raja, Ravinder Makkar, Divya C. Thomas, Nitika Setia, Meenakshi Bhat
المصدر: Neuromuscular Disorders. 31:431-441
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Adolescent, Genotype, Cardiomyopathy, India, Late onset, Disease, Compound heterozygosity, Left ventricular hypertrophy, Cohort Studies, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Humans, Missense mutation, Age of Onset, Child, Genetics (clinical), Retrospective Studies, Glycogen Storage Disease Type II, business.industry, Homozygote, Muscle weakness, medicine.disease, Cross-Sectional Studies, Phenotype, 030104 developmental biology, Neurology, Mutation, Pediatrics, Perinatology and Child Health, Cohort, Disease Progression, Female, RNA Splice Sites, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc6199f44a124c02bf605eb42732602bTest
https://doi.org/10.1016/j.nmd.2021.02.013Test -
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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: Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Kapil Jetha, Kiruthiga Sugumar, Meenakshi Bhat, Sanjay K. Shivappa, Maya Bhat, Rita Christopher
المصدر: Journal of Pediatric Genetics.
مصطلحات موضوعية: Pediatrics, Perinatology and Child Health, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::0ae63b416b3cc3c8675a87955fd3e02cTest
https://doi.org/10.1055/s-0041-1740370Test