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1دورية أكاديمية
المؤلفون: Luna Bajracharya, Meena Lall, Sunita Bijarnia-Mahay, Praveen Kumar, Imran Mushtaq, Pushpa Saviour, Preeti Paliwal, Anju Joshi, Shruti Agarwal, Praveen Suman
المصدر: Case Reports in Genetics, Vol 2023 (2023)
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2090-6552Test
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2دورية أكاديمية
المصدر: Annals of Indian Academy of Neurology, Vol 24, Iss 3, Pp 413-416 (2021)
مصطلحات موضوعية: adld, adult-onset leukodystrophy, autonomic dysfunction, lamin b, lmnb1, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: http://www.annalsofian.org/article.asp?issn=0972-2327;year=2021;volume=24;issue=3;spage=413;epage=416;aulastTest=Bijarnia-Mahay; https://doaj.org/toc/0972-2327Test; https://doaj.org/toc/1998-3549Test
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3دورية أكاديمية
المؤلفون: Kanika Singh, Sunita Bijarnia-Mahay, V. L. Ramprasad, Ratna Dua Puri, Sandhya Nair, Sheetal Sharda, Renu Saxena, Sudha Kohli, Samarth Kulshreshtha, Indrani Ganguli, Kanwal Gujral, Ishwar C. Verma
المصدر: BMC Medical Genetics, Vol 21, Iss 1, Pp 1-15 (2020)
مصطلحات موضوعية: Carrier screening, Cystic fibrosis, Hearing loss, Pompe disease, Asian Indians, Internal medicine, RC31-1245, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s12881-020-01153-4Test; https://doaj.org/toc/1471-2350Test
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4دورية 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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5دورية أكاديمية
المؤلفون: Sunita Bijarnia‐Mahay, Vivek Jain, Beat Thöny
المصدر: JIMD Reports, Vol 53, Iss 1, Pp 12-15 (2020)
مصطلحات موضوعية: hypokinesia, infantile parkinsonism, oculogyria, tremor, tyrosine hydroxylase deficiency, 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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6دورية أكاديمية
المؤلفون: Sapna Sandal, Varshini Shanker, Swasti Pal, Sunita Bijarnia-Mahay
المصدر: Indian Pediatrics Case Reports, Vol 1, Iss 2, Pp 117-119 (2021)
مصطلحات موضوعية: brachydactyly, ectopia lentis, short stature, Pediatrics, RJ1-570
وصف الملف: electronic resource
العلاقة: http://www.ipcares.org/article.asp?issn=2772-5170;year=2021;volume=1;issue=2;spage=117;epage=119;aulast=SandalTest; https://doaj.org/toc/2772-5170Test; https://doaj.org/toc/2772-5189Test
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7دورية أكاديمية
المؤلفون: Sunita Bijarnia-Mahay, Johannes Häberle, Anil B. Jalan, Ratna Dua Puri, Sudha Kohli, Ketki Kudalkar, Véronique Rüfenacht, Deepti Gupta, Deepshikha Maurya, Jyotsna Verma, Yosuke Shigematsu, Seiji Yamaguchi, Renu Saxena, Ishwar C. Verma
المصدر: Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-12 (2018)
مصطلحات موضوعية: Urea cycle, UCD, OTC deficiency, Citrullinemia, Argininosuccinic aciduria, Mutation, Medicine
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s13023-018-0908-1Test; https://doaj.org/toc/1750-1172Test
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8دورية أكاديمية
المؤلفون: Naoaki Shibata, Yuki Hasegawa, Kenji Yamada, Hironori Kobayashi, Jamiyan Purevsuren, Yanling Yang, Vu Chi Dung, Nguyen Ngoc Khanh, Ishwar C. Verma, Sunita Bijarnia-Mahay, Dong Hwan Lee, Dau-Ming Niu, Georg F. Hoffmann, Yosuke Shigematsu, Toshiyuki Fukao, Seiji Fukuda, Takeshi Taketani, Seiji Yamaguchi
المصدر: Molecular Genetics and Metabolism Reports, Vol 16, Iss , Pp 5-10 (2018)
مصطلحات موضوعية: Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S221442691830034XTest; https://doaj.org/toc/2214-4269Test
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9دورية أكاديمية
المؤلفون: Veronica Arora, Sunita Bijarnia-Mahay, Samarth Kulshreshtra, Kanika Singh, Ratna Dua Puri, Ishwar Chandar Verma
المصدر: Autopsy and Case Reports, Vol 9, Iss 4 (2019)
مصطلحات موضوعية: Congenital Disorder of Glycosylation, Walker-Warburg Syndrome, Hydrocephalus, Medicine, Internal medicine, RC31-1245
وصف الملف: electronic resource
العلاقة: http://www.revistas.usp.br/autopsy/article/view/162885Test; https://doaj.org/toc/2236-1960Test
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10دورية أكاديمية
المؤلفون: Minal Borkar PhD, Sunita Bijarnia-Mahay DCH, DNB, MD, Sudha Kohli PhD, Monica Juneja MD, Yogesh Srivastava M.Sc, Renu Saxena PhD, Ishwar C. Verma FRCP
المصدر: Journal of Inborn Errors of Metabolism and Screening, Vol 3 (2015)
مصطلحات موضوعية: Medicine (General), R5-920
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2326-4594Test