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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 -
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المؤلفون: Tejashwini Vittal Kumar, Meenakshi Bhat, Sanjeeva Ghanti Narayanachar, Vinu Narayan, Ambika K. Srikanth, Swathi Anikar, Swathi Shetty
المصدر: PLOS ONE. 17:e0270373
مصطلحات موضوعية: Multidisciplinary, Asian People, Mutation, Humans, Glycogen Storage Disease Type I, Glycogen Storage Disease, Glycogen
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5775b181b309413a10402c175753f777Test
https://doi.org/10.1371/journal.pone.0270373Test -
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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: cytogenetic studies, Medical physics. Medical radiology. Nuclear medicine, RD1-811, R895-920, Surgery, infertility, chromosomal studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1fc83a23b52e446b32c8cc0d0f556d4aTest
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المؤلفون: Meenakshi Bhat
المصدر: The International journal of developmental biology. 64(4-5-6)
مصطلحات موضوعية: Male, 0303 health sciences, Embryology, Genetic syndromes, Embryonic Development, Gene Expression Regulation, Developmental, Biology, Congenital Abnormalities, Mesoderm, 03 medical and health sciences, Craniosynostoses, Neural Crest, Face, Humans, Female, Facial development, Medical diagnosis, Neuroscience, 030304 developmental biology, Developmental Biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34fac47ee5f6c6afa1d1d2a8577a6926Test
https://pubmed.ncbi.nlm.nih.gov/32658997Test -
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المؤلفون: Arjun Veeraganahalli Anandappa, R Lakshmi Prabha Subhash, Harshal Kl, Anupama D, Meenakshi Bhat, Jayarama S. Kadandale, Satyanarayana Mt
المصدر: Research Journal of Medical and Allied Health Sciences. :5-9
مصطلحات موضوعية: Chromosome (genetic algorithm), business.industry, General Engineering, Medicine, business, Clinical psychology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::7e5f9e3f7946652d7bcb03dfc961ac0eTest
https://doi.org/10.46319/rjmahs.2018.v01i01.002Test -
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المؤلفون: Vinuth N Puttamallesh, Meenakshi Bhat, Sheela Nampoothiri, Sanjeeva Ghanti Narayanachar, Swathi Shetty, Jeevana Praharsha Athota, Kalpana Gowrishankar, Mohammed Oomer Farooque
المصدر: BMC Medical Genetics
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-10 (2020)مصطلحات موضوعية: 0301 basic medicine, Male, DNA Mutational Analysis, Protein Tyrosine Phosphatase, Non-Receptor Type 11, 030105 genetics & heredity, PTPN11, Cohort Studies, Exon, Noonan syndrome, Hypertelorism, Child, Genetics (clinical), Genetics, Phenotype, Congenital heart defects, Child, Preschool, SHP-2, Female, medicine.symptom, Research Article, Adult, Heart Defects, Congenital, lcsh:Internal medicine, lcsh:QH426-470, Adolescent, India, Short stature, Polymorphism, Single Nucleotide, 03 medical and health sciences, Young Adult, Germline mutation, medicine, Humans, Family, Genetic Predisposition to Disease, lcsh:RC31-1245, Gene, Genetic Association Studies, Germ-Line Mutation, business.industry, Infant, Newborn, Infant, medicine.disease, Mutational analysis, lcsh:Genetics, 030104 developmental biology, Palpebral fissure, RASopathy, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f1d20d9b0e3a09a83df5bf80e4772d0fTest
https://pubmed.ncbi.nlm.nih.gov/32164556Test