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1دورية أكاديمية
المؤلفون: Salter, Claire G, Cai, Yiying, Lo, Bernice, Helman, Guy, Taylor, Henry, McCartney, Amber, Leslie, Joseph S, Accogoli, Andrea, Zara, Frederico, Traverso, Monica, Fasham, James, Lees, Joshua A, Ferla, Matteo, Chioza, Barry A, Wenger, Olivia, Scott, Ethan, Cross, Harold E, Crawford, Joanna, Warshawsky, Ilka, Keisling, Matthew, Agamanolis, Dimitris, Melver, Catherine Ward, Cox, Helen, Elawad, Mamoun, Marton, Tamas, Wakeling, Matthew, Holzinger, Dirk, Tippelt, Stephan, Munteanu, Martin, Valcheva, Deyana, Deal, Christin, Van Meerbeke, Sara, Vockley, Catherine Walsh, Butte, Manish J, Acar, Utkucan, van der Knaap, Marjo S, Korenke, G Christoph, Kotzaeridou, Urania, Balla, Tamas, Simons, Cas, Uhlig, Holm H, Crosby, Andrew H, De Camilli, Pietro, Wolf, Nicole I, Baple, Emma L
المصدر: Brain. 144(12)
مصطلحات موضوعية: Digestive Diseases, Pediatric, 1.1 Normal biological development and functioning, Aetiology, 2.1 Biological and endogenous factors, Underpinning research, Oral and gastrointestinal, Female, Hereditary Central Nervous System Demyelinating Diseases, Humans, Intestinal Atresia, Male, Minor Histocompatibility Antigens, Pedigree, Phosphotransferases (Alcohol Group Acceptor), Polymorphism, Single Nucleotide, Primary Immunodeficiency Diseases, hypomyelinating leukodystrophy, multiple intestinal atresia, PI4KA, FAM126A, TTC7A, PI4KA, Medical and Health Sciences, Psychology and Cognitive Sciences, Neurology & Neurosurgery
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/9g7991s4
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2دورية أكاديمية
المؤلفون: Hannon, EilisAff1, IDs1291502401827y_cor1, Dempster, Emma L., Davies, Jonathan P., Chioza, Barry, Blake, Georgina E. T., Burrage, Joe, Policicchio, Stefania, Franklin, Alice, Walker, Emma M., Bamford, Rosemary A., Schalkwyk, Leonard C., Mill, Jonathan
المصدر: BMC Biology. 22(1)
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3دورية أكاديمية
المؤلفون: Shireby, Gemma, Dempster, Emma L., Policicchio, Stefania, Smith, Rebecca G., Pishva, Ehsan, Chioza, Barry, Davies, Jonathan P., Burrage, Joe, Lunnon, Katie, Seiler Vellame, Dorothea, Love, Seth, Thomas, Alan, Brookes, Keeley, Morgan, Kevin, Francis, PaulAff1, Aff7, Hannon, Eilis, Mill, JonathanAff1, IDs41467022333947_cor17
المصدر: Nature Communications. 13(1)
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4دورية أكاديمية
المؤلفون: Li, Lin, Jiao, Xiaodong, D'Atri, Ilaria, Ono, Fumihito, Nelson, Ralph, Chan, Chi-Chao, Nakaya, Naoki, Ma, Zhiwei, Ma, Yan, Cai, Xiaoying, Zhang, Longhua, Lin, Siying, Hameed, Abdul, Chioza, Barry A, Hardy, Holly, Arno, Gavin, Hull, Sarah, Khan, Muhammad Imran, Fasham, James, Harlalka, Gaurav V, Michaelides, Michel, Moore, Anthony T, Coban Akdemir, Zeynep Hande, Jhangiani, Shalini, Lupski, James R, Cremers, Frans PM, Qamar, Raheel, Salman, Ahmed, Chilton, John, Self, Jay, Ayyagari, Radha, Kabir, Firoz, Naeem, Muhammad Asif, Ali, Muhammad, Akram, Javed, Sieving, Paul A, Riazuddin, Sheikh, Baple, Emma L, Riazuddin, S Amer, Crosby, Andrew H, Hejtmancik, J Fielding
المصدر: PLoS genetics. 14(8)
مصطلحات موضوعية: Retina, Cell Line, Cytoplasm, Animals, Mice, Knockout, Zebrafish, Humans, Mice, Retinitis Pigmentosa, Chloride Channels, Eye Proteins, Homozygote, Mutation, Missense, Asian Continental Ancestry Group, Pakistan, Retinal Rod Photoreceptor Cells, Retinal Cone Photoreceptor Cells, HEK293 Cells, Neurodegenerative, Eye Disease and Disorders of Vision, Genetics, Neurosciences, Rare Diseases, 2.1 Biological and endogenous factors, Eye, Developmental Biology
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/0ps3f4k7
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5دورية أكاديمية
المؤلفون: Leslie, Joseph S., Rawlins, Lettie E.Aff1, Aff2, Chioza, Barry A., Olubodun, Oluwaseun R., Salter, Claire G., Fasham, JamesAff1, Aff2, Jones, Hannah F., Cross, Harold E., Lam, Simon, Harlalka, Gaurav V., Muggenthaler, Martina M. A.Aff1, Aff4, Crosby, Andrew H.Aff1, Baple, Emma L.Aff1, Aff2
المصدر: European Journal of Human Genetics. 28(1):50-55
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6دورية أكاديمية
المؤلفون: Rawlins, Lettie E.Aff1, Aff2, Jones, Hannah, Wenger, Olivia, Aye, Myat, Fasham, JamesAff1, Aff2, Harlalka, Gaurav V., Chioza, Barry A., Miron, Alexander, Ellard, Sian, Wakeling, Matthew, Crosby, Andrew H.Aff1, Baple, Emma L.Aff1, Aff2
المصدر: European Journal of Human Genetics. 27(4):657-662
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7دورية أكاديمية
المؤلفون: Faundes, Víctor, Castillo-Taucher, Silvia, Gonzalez-Hormazabal, Patricio, Chandler, Kate, Crosby, Andrew, Chioza, Barry
المصدر: In European Journal of Medical Genetics September 2014 57(9):536-542
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8دورية أكاديمية
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9دورية أكاديمية
المؤلفون: Ullah, Muhammad IkramAff1, Aff2, Nasir, AbdulAff1, Aff3, Ahmad, Arsalan, Harlalka, Gaurav Vijay, Ahmad, Wasim, Hassan, Muhammad Jawad, Baple, Emma L., Crosby, Andrew H., Chioza, Barry A.Aff2
المصدر: BMC Medical Genetics: BMC series – open, inclusive and trusted. 19(1)
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10دورية أكاديمية
لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.