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1دورية أكاديمية
المؤلفون: Kumari Pritti, Vineet Mishra, Somesh Aggarwal, Mehul Mistri, Manisha Chhetry
المصدر: Egyptian Journal of Medical Human Genetics, Vol 25, Iss 1, Pp 1-5 (2024)
مصطلحات موضوعية: Anterior segment dysgenesis, Novel mutation, Peters anomaly, Variants of uncertain significance, Medicine (General), R5-920, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2090-2441Test
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2دورية أكاديمية
المؤلفون: Udhaya Kotecha, Pranav Chand Rayabarapu, Mehul Mistri, Nupur Thakur, Parth Shah, Nidhi Shah
المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101504- (2024)
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2949774424006502Test; https://doaj.org/toc/2949-7744Test
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3دورية أكاديمية
المؤلفون: Jayesh Sheth, Riddhi Bhavsar, Mehul Mistri, Dhairya Pancholi, Ashish Bavdekar, Ashwin Dalal, Prajnya Ranganath, Katta M Girisha, Anju Shukla, Shubha Phadke, Ratna Puri, Inusha Panigrahi, Anupriya Kaur, Mamta Muranjan, Manisha Goyal, Radha Ramadevi, Raju Shah, Sheela Nampoothiri, Sumita Danda, Chaitanya Datar, Seema Kapoor, Seema Bhatwadekar, Frenny Sheth
المصدر: BMC Medical Genetics, Vol 20, Iss 1, Pp 1-11 (2019)
مصطلحات موضوعية: Gaucher disease, β-Glucosidase, Chitotriosidase, GBA1 gene, Glucocerebrosidase, Indian population, Internal medicine, RC31-1245, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s12881-019-0759-1Test; https://doaj.org/toc/1471-2350Test
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4دورية أكاديمية
المؤلفون: Jayesh Sheth, Mehul Mistri, Riddhi Bhavsar, Dhairya Pancholi, Mahesh Kamate, Neerja Gupta, Madhulika Kabra, Sanjiv Mehta, Sheela Nampoothiri, Arpita Thakker, Vivek Jain, Raju Shah, Frenny Sheth
المصدر: BMC Neurology, Vol 18, Iss 1, Pp 1-11 (2018)
مصطلحات موضوعية: PPT1, TPP1, Batten disease, Neuronal ceroid lipofuscinoses (NCL), Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s12883-018-1206-1Test; https://doaj.org/toc/1471-2377Test
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5دورية أكاديمية
المؤلفون: Jayesh Sheth, Dhairya Pancholi, Mehul Mistri, Payal Nath, Chitra Ankleshwaria, Riddhi Bhavsar, Ratna Puri, Shubha Phadke, Frenny Sheth
المصدر: BMC Medical Genetics, Vol 19, Iss 1, Pp 1-9 (2018)
مصطلحات موضوعية: Adult Gaucher disease, β-Glucosidase, Chitotriosidase, GBA gene, Glucocerebrosidase, Indian population, Internal medicine, RC31-1245, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s12881-018-0687-5Test; https://doaj.org/toc/1471-2350Test
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6دورية أكاديمية
المؤلفون: Jayesh Sheth, Mehul Mistri, Lakshmi Mahadevan, Sanjeev Mehta, Dhaval Solanki, Mahesh Kamate, Frenny Sheth
المصدر: BMC Medical Genetics, Vol 19, Iss 1, Pp 1-5 (2018)
مصطلحات موضوعية: Tay-Sachs disease, ß-hexosaminidase-A, HEXA gene, MLPA, Internal medicine, RC31-1245, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s12881-018-0632-7Test; https://doaj.org/toc/1471-2350Test
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7دورية أكاديمية
المؤلفون: Jayesh Sheth, Mehul Mistri, Chaitanya Datar, Umesh Kalane, Shekhar Patil, Mahesh Kamate, Harshuti Shah, Sheela Nampoothiri, Sarita Gupta, Frenny Sheth
المصدر: Molecular Genetics and Metabolism Reports, Vol 1, Iss C, Pp 425-430 (2014)
مصطلحات موضوعية: Tay–Sachs disease, HEXA gene, β-Hexosaminidase-A, Lysosomal enzyme, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2214426914000627Test; https://doaj.org/toc/2214-4269Test
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8دورية أكاديمية
المؤلفون: Mehul Mistri, Parag M Tamhankar, Frenny Sheth, Daksha Sanghavi, Pratima Kondurkar, Swapnil Patil, Susan Idicula-Thomas, Sarita Gupta, Jayesh Sheth
المصدر: PLoS ONE, Vol 7, Iss 6, p e39122 (2012)
وصف الملف: electronic resource
العلاقة: https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/22723944/?tool=EBITest; https://doaj.org/toc/1932-6203Test
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9
المصدر: American Journal of Medical Genetics Part A. 191:275-279
مصطلحات موضوعية: Genetics, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::c6d237b139d9775e8678a1826c433483Test
https://doi.org/10.1002/ajmg.a.63017Test -
10
المصدر: American Journal of Medical Genetics Part A. 188:1323-1333
مصطلحات موضوعية: Genetics, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::a2b668fd6b4f841347fa494d9da4133fTest
https://doi.org/10.1002/ajmg.a.62633Test