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1دورية أكاديمية
المؤلفون: Aradhana Dwivedi, Amita Moirangthem, Himani Pandey, Pankaj Sharma, Priyanka Srivastava, Prabhaker Yadav, Deepti Saxena, Shubha Phadke, Preeti Dabadghao, Neerja Gupta, Madhulika Kabra, Rekha Goyal, Rituparna Biswas, Swayamsidha Mangaraj, Debarati Bhar, Subhankar Chowdhury, Amit Agarwal, Kausik Mandal
المصدر: Egyptian Journal of Medical Human Genetics, Vol 23, Iss 1, Pp 1-9 (2022)
مصطلحات موضوعية: Von Hippel–Lindau syndrome, Molecular sequencing data, Copy number variation, Medicine (General), R5-920, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2090-2441
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2دورية 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
Relation: https://doaj.org/toc/2192-8312
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3دورية أكاديمية
المؤلفون: Deepti Suri, Amit Rawat, Ankur Kumar Jindal, Pandiarajan Vignesh, Anju Gupta, Rakesh Kumar Pilania, Vibhu Joshi, Kanika Arora, Rajni Kumrah, Gummadi Anjani, Amita Aggarwal, Shubha Phadke, Fouzia N. Aboobacker, Biju George, Eunice Sindhuvi Edison, Mukesh Desai, Prasad Taur, Vijaya Gowri, Ambreen Abdulwahab Pandrowala, Sagar Bhattad, Swati Kanakia, Marco Gottorno, Isabella Ceccherini, Adriana Almeida de Jesus, Raphaela Goldbach-Mansky, Michael S. Hershfield, Surjit Singh
المصدر: Frontiers in Immunology, Vol 12 (2021)
مصطلحات موضوعية: systemic autoinflamatory diseases, India, deficiency of adenosine deaminase 2, NOMID/CINCA, hyper IgD syndrome, A20 (TNFAIP3), Immunologic diseases. Allergy, RC581-607
وصف الملف: electronic resource
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4دورية 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
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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
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6دورية أكاديمية
المؤلفون: Abhinav Gupta, Aditya Kapoor, Shubha Phadke, Archana Sinha, Shridhar Kashyap, Roopali Khanna, Sudeep Kumar, Naveen Garg, Satyendra Tewari, Pravin Goel
المصدر: Annals of Pediatric Cardiology, Vol 10, Iss 2, Pp 158-166 (2017)
مصطلحات موضوعية: Echocardiography, strain, strain rate, thalassemia, tissue Doppler, Medicine, Pediatrics, RJ1-570, Diseases of the circulatory (Cardiovascular) system, RC666-701
وصف الملف: electronic resource
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7
المؤلفون: Deepti Saxena, Somya Srivastava, Rajesh K. Maurya, Amita Moirangthem, Kausik Mandal, Shubha Phadke
المصدر: Prenatal Diagnosis. 43:579-595
مصطلحات موضوعية: Obstetrics and Gynecology, Genetics (clinical)
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8
المؤلفون: Aabha Nagral, Snehal Mallakmir, Nikita Garg, Kritika Tiwari, Suzena Masih, Nishtha Nagral, Ojas Unavane, Ajay Jhaveri, Shubha Phadke, GaneshPrasad ArunKumar, Rakesh Aggarwal
المصدر: Indian Journal of Pediatrics. 90:240-248
مصطلحات موضوعية: Pediatrics, Perinatology and Child Health
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9
المؤلفون: Ranjana Mishra, Samarth Kulshreshtha, Kausik Mandal, Ashok Khurana, Dan Diego‐Álvarez, Laura Pradas, Renu Saxena, Shubha Phadke, Amita Moirangthem, Suzena Masih, Seema Sud, Ishwar Chander Verma, Ratna Dua Puri
المصدر: American Journal of Medical Genetics Part A. 188:2339-2350
مصطلحات موضوعية: Phenotype, Cerebellar Diseases, Pregnancy, Transferases, Mutation, Microcephaly, Genetics, Humans, Female, Genetics (clinical)
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10
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)