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1دورية أكاديمية
المؤلفون: Sophia Zilber, Kasey Woleben, Simon C. Johnson, Carolina Fischinger Moura de Souza, Danielle Boyce, Kevin Freiert, Courtney Boggs, Souad Messahel, Melinda J. Burnworth, Titilola M. Afolabi, Saima Kayani
المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-17 (2023)
مصطلحات موضوعية: Leigh syndrome, Leigh disease, Mitochondrial disease, Patient registry, Patient driven, Real world data, Medicine
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1750-1172
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2دورية أكاديمية
المؤلفون: Adrian Avila, Ignacio Málaga, Deepa Sirsi, Saima Kayani, Sharon Primeaux, Gauri A. Kathote, Vikram Jakkamsetti, Raja Reddy Kallem, William C. Putnam, Jason Y. Park, Shlomo Shinnar, Juan M. Pascual
المصدر: Scientific Reports, Vol 13, Iss 1, Pp 1-11 (2023)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2045-2322
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3دورية أكاديمية
المؤلفون: Margot A. Cousin, Emma L. Veale, Nikita R. Dsouza, Swarnendu Tripathi, Robyn G. Holden, Maria Arelin, Geoffrey Beek, Mir Reza Bekheirnia, Jasmin Beygo, Vikas Bhambhani, Martin Bialer, Stefania Bigoni, Cyrus Boelman, Jenny Carmichael, Thomas Courtin, Benjamin Cogne, Ivana Dabaj, Diane Doummar, Laura Fazilleau, Alessandra Ferlini, Ralitza H. Gavrilova, John M. Graham, Tobias B. Haack, Jane Juusola, Sarina G. Kant, Saima Kayani, Boris Keren, Petra Ketteler, Chiara Klöckner, Tamara T. Koopmann, Teresa M. Kruisselbrink, Alma Kuechler, Laëtitia Lambert, Xénia Latypova, Robert Roger Lebel, Magalie S. Leduc, Emanuela Leonardi, Andrea M. Lewis, Wendy Liew, Keren Machol, Samir Mardini, Kirsty McWalter, Cyril Mignot, Julie McLaughlin, Alessandra Murgia, Vinodh Narayanan, Caroline Nava, Sonja Neuser, Mathilde Nizon, Davide Ognibene, Joohyun Park, Konrad Platzer, Céline Poirsier, Maximilian Radtke, Keri Ramsey, Cassandra K. Runke, Maria J. Guillen Sacoto, Fernando Scaglia, Marwan Shinawi, Stephanie Spranger, Ee Shien Tan, John Taylor, Anne-Sophie Trentesaux, Filippo Vairo, Rebecca Willaert, Neda Zadeh, Raul Urrutia, Dusica Babovic-Vuksanovic, Michael T. Zimmermann, Alistair Mathie, Eric W. Klee
المصدر: Genome Medicine, Vol 14, Iss 1, Pp 1-19 (2022)
مصطلحات موضوعية: KCNK9 imprinting syndrome, TASK3 channel, Neurodevelopmental disorder, Electrophysiology, Computational protein modeling, Medicine, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1756-994X
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4دورية أكاديمية
المؤلفون: Saima Kayani, Deepa Sirsi
المصدر: Journal of Central Nervous System Disease, Vol 2012, Iss 4, Pp 51-63 (2012)
مصطلحات موضوعية: Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
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5
المصدر: Pediatric Neurology. 140:40-46
مصطلحات موضوعية: Developmental Neuroscience, Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical)
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6
المؤلفون: Can Ozlu, Priya Chelliah, Hamza Dahshi, Daniel Horton, Veronica B. Edgar, Souad Messahel, Saima Kayani
المصدر: American Journal of Medical Genetics Part A. 188:2908-2919
مصطلحات موضوعية: Mitochondrial Trifunctional Protein, Fatty Acids, Guinea Pigs, Mitochondrial Myopathies, Valine, Lipid Metabolism, Inborn Errors, Rhabdomyolysis, Phenotype, Quality of Life, Genetics, Animals, Leigh Disease, Nervous System Diseases, Cardiomyopathies, Enoyl-CoA Hydratase, Genetics (clinical)
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7دورية أكاديمية
المؤلفون: Sumaira Kayani, Humaira Kayani, Khisro Kaleem Raza, Saima Kayani, Weijian Li, Michele Biasutti
المصدر: MDPI, Sustainability. 14(13):1-12
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8دورية أكاديمية
المؤلفون: Tayyaba Kiyani, Sumaira Kayani, Saima Kayani, Si Qi, Michele Biasutti
المصدر: MDPI, Sustainability. 14(10):1-18
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9دورية أكاديمية
المصدر: MDPI, IJERPH. 20(1):1-12
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10دورية أكاديمية
المؤلفون: Tayyaba Kiyani, Sumaira Kayani, Saima Kayani, Iffat Batool, Si Qi, Michele Biasutti
المصدر: MDPI, IJERPH. 18(13):1-14