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1دورية أكاديمية
المؤلفون: Harsh Sheth, Aadhira Nair, Riddhi Bhavsar, Mahesh Kamate, Vykuntaraju K. Gowda, Ashish Bavdekar, Sandeep Kadam, Sheela Nampoothiri, Inusha Panigrahi, Anupriya Kaur, Siddharth Shah, Sanjeev Mehta, Sujatha Jagadeesan, Indrani Suresh, Seema Kapoor, Shruti Bajaj, Radha Rama Devi, Ashka Prajapati, Koumudi Godbole, Harsh Patel, Zulfiqar Luhar, Raju C. Shah, Anand Iyer, Sunita Bijarnia, Ratna Puri, Mamta Muranjan, Ami Shah, Suvarna Magar, Neerja Gupta, Naresh Tayade, Ajit Gandhi, Ajit Sowani, Shrutikaa Kale, Anil Jalan, Dhaval Solanki, Ashwin Dalal, Shrikant Mane, C. Ratna Prabha, Frenny Sheth, Chaitanya G. Joshi, Madhvi Joshi, Jayesh Sheth
المصدر: Human Genomics, Vol 18, Iss 1, Pp 1-20 (2024)
مصطلحات موضوعية: Lysosomal storage disorders, smMIP probes, Dried blood spot, Diagnostic yield, Cost effective, Medicine, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1479-7364
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2دورية أكاديمية
المؤلفون: Balamurugan Nagarajan, Vykuntaraju K. Gowda, Sangeetha Yoganathan, Indar Kumar Sharawat, Kavita Srivastava, Nitish Vora, Rahul Badheka, Sumita Danda, Umesh Kalane, Anupriya Kaur, Priyanka Madaan, Sanjiv Mehta, Sandeep Negi, Prateek Kumar Panda, Surekha Rajadhyaksha, Arushi Gahlot Saini, Lokesh Saini, Siddharth Shah, Varunvenkat M. Srinivasan, Renu Suthar, Maya Thomas, Sameer Vyas, Naveen Sankhyan, Jitendra Kumar Sahu
المصدر: Epilepsia Open, Vol 8, Iss 4, Pp 1383-1404 (2023)
مصطلحات موضوعية: developmental and epileptic encephalopathy, genetic epileptic spasms, genetic infantile spasms, genetic West, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2470-9239
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3دورية أكاديمية
المؤلفون: Vykuntaraju K Gowda, Viveka Santhosh Reddy, Varunvenkat M Srinivasan, Dhananjaya K Vamyanmane
المصدر: Annals of Indian Academy of Neurology, Vol 27, Iss 1, Pp 103-105 (2024)
مصطلحات موضوعية: Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Stephanie Efthymiou, Luiz E. Novis, Georgios Koutsis, Chrysoula Koniari, Reza Maroofian, Valentina Turchetti, Georgios Velonakis, Luiz F. Vasconcellos, Salmo Raskin, Varunvenkat M. Srinivasan, Alistair T. Pagnamenta, Yaramanchanahalli B. Arun, Uddhava V. Kinhal, Vykuntaraju K. Gowda, Helio A. G. Teive, Henry Houlden
المصدر: Annals of Clinical and Translational Neurology, Vol 10, Iss 10, Pp 1910-1916 (2023)
مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2328-9503
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5دورية أكاديمية
المؤلفون: Tina Damodar, Bhagteshwar Singh, Namratha Prabhu, Srilatha Marate, Vykuntaraju K. Gowda, A.V. Lalitha, Fulton Sebastian Dsouza, Sushma Veeranna Sajjan, Mallesh Kariyappa, Uddhava V. Kinhal, P.V. Prathyusha, Anita Desai, Kandavel Thennarasu, Tom Solomon, Vasanthapuram Ravi, Ravi Yadav
المصدر: Emerging Infectious Diseases, Vol 29, Iss 4, Pp 711-722 (2023)
مصطلحات موضوعية: scrub typhus, acute febrile encephalopathy, central nervous system infections, encephalitis, Orientia tsutsugamushi, vector-borne infections, Medicine, Infectious and parasitic diseases, RC109-216
وصف الملف: electronic resource
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6دورية أكاديمية
المؤلفون: Charlotte Gehin, Museer A. Lone, Winston Lee, Laura Capolupo, Sylvia Ho, Adekemi M. Adeyemi, Erica H. Gerkes, Alexander P.A. Stegmann, Estrella López-Martín, Eva Bermejo-Sánchez, Beatriz Martínez-Delgado, Christiane Zweier, Cornelia Kraus, Bernt Popp, Vincent Strehlow, Daniel Gräfe, Ina Knerr, Eppie R. Jones, Stefano Zamuner, Luciano A. Abriata, Vidya Kunnathully, Brandon E. Moeller, Anthony Vocat, Samuel Rommelaere, Jean-Philippe Bocquete, Evelyne Ruchti, Greta Limoni, Marine Van Campenhoudt, Samuel Bourgeat, Petra Henklein, Christian Gilissen, Bregje W. van Bon, Rolph Pfundt, Marjolein H. Willemsen, Jolanda H. Schieving, Emanuela Leonardi, Fiorenza Soli, Alessandra Murgia, Hui Guo, Qiumeng Zhang, Kun Xia, Christina R. Fagerberg, Christoph P. Beier, Martin J. Larsen, Irene Valenzuela, Paula Fernández-Álvarez, Shiyi Xiong, Robert Śmigiel, Vanesa López-González, Lluís Armengol, Manuela Morleo, Angelo Selicorni, Annalaura Torella, Moira Blyth, Nicola S. Cooper, Valerie Wilson, Renske Oegema, Yvan Herenger, Aurore Garde, Ange-Line Bruel, Frederic Tran Mau-Them, Alexis B.R. Maddocks, Jennifer M. Bain, Musadiq A. Bhat, Gregory Costain, Peter Kannu, Ashish Marwaha, Neena L. Champaigne, Michael J. Friez, Ellen B. Richardson, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Yask Gupta, Tze Y. Lim, Simone Sanna-Cherchi, Bruno Lemaitre, Toshiyuki Yamaji, Kentaro Hanada, John E. Burke, Ana Marjia Jakšić, Brian D. McCabe, Paolo De Los Rios, Thorsten Hornemann, Giovanni D’Angelo, Vincenzo A. Gennarino
المصدر: The Journal of Clinical Investigation, Vol 133, Iss 10 (2023)
مصطلحات موضوعية: Cell biology, Genetics, Medicine
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1558-8238
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7دورية أكاديمية
المؤلفون: Vykuntaraju K Gowda, Arun Y Bylappa, Uddhav Kinhal, Varunvenkat M Srinivasan, Dhananjaya K Vamyanmane
المصدر: Annals of Indian Academy of Neurology, Vol 26, Iss 6, Pp 977-979 (2023)
مصطلحات موضوعية: alexander disease, india, mitochondrial disorder, ndufs8 gene, stroke-like episodes, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
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8دورية أكاديمية
المؤلفون: Patricia Pascual, Jair Tenorio-Castano, Cyril Mignot, Alexandra Afenjar, Pedro Arias, Natalia Gallego-Zazo, Alejandro Parra, Lucia Miranda, Mario Cazalla, Cristina Silván, Delphine Heron, Boris Keren, Ioana Popa, María Palomares, Emi Rikeros, Feliciano J. Ramos, Berta Almoguera, Carmen Ayuso, Saoud Tahsin Swafiri, Ana Isabel Sánchez Barbero, Varunvenkat M. Srinivasan, Vykuntaraju K. Gowda, Manuela Morleo, Vicenzo Nigro, Stefano D’Arrigo, Claudia Ciaccio, Carmen Martin Mesa, Beatriz Paumard, Gema Guillen, Ana Teresa Serrano Anton, Marta Domínguez Jimenez, Veronica Seidel, Julia Suárez, Valerie Cormier-Daire, The SOGRI Consortium, Julián Nevado, Pablo Lapunzina
المصدر: Genes, Vol 14, Iss 9, p 1664 (2023)
مصطلحات موضوعية: CHD3, Snijders Blok–Campeau syndrome, overgrowth, neurodevelopmental disorders, SNIBCPS, Genetics, QH426-470
وصف الملف: electronic resource
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9دورية أكاديمية
المؤلفون: Jessica R.C. Priestley, Lisa M. Pace, Kuntal Sen, Anjali Aggarwal, Cesar Augusto P.F. Alves, Ian M. Campbell, Sanmati R. Cuddapah, Nicole M. Engelhardt, Marina Eskandar, Paloma C. Jolín García, Andrea Gropman, Ingo Helbig, Xinying Hong, Vykuntaraju K. Gowda, Laina Lusk, Pamela Trapane, Varunvenkat M. Srinivasan, Pim Suwannarat, Rebecca D. Ganetzky
المصدر: Molecular Genetics and Metabolism Reports, Vol 33, Iss , Pp 100931- (2022)
مصطلحات موضوعية: Malate dehydrogenase, MDH2, Mitochondrial malate dehydrogenase, TCA cycle, Epileptic encephalopathy, Leigh syndrome, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
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10دورية أكاديمية
المؤلفون: Vykuntaraju K Gowda, Amit Avaragollapuravarga Mathada, Varunvenkat M Srinivasan, Dhananjaya K Vamyanmane
المصدر: Advanced Biomedical Research, Vol 12, Iss 1, Pp 148-148 (2023)
مصطلحات موضوعية: biotin, biotinidase deficiency, btd gene variants, enzyme activity, neonatal screening, Medicine, Biology (General), QH301-705.5
وصف الملف: electronic resource