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1دورية أكاديمية
المؤلفون: Schaffer, Ashleigh E, Breuss, Martin W, Caglayan, Ahmet Okay, Al-Sanaa, Nouriya, Al-Abdulwahed, Hind Y, Kaymakçalan, Hande, Yılmaz, Cahide, Zaki, Maha S, Rosti, Rasim O, Copeland, Brett, Baek, Seung Tae, Musaev, Damir, Scott, Eric C, Ben-Omran, Tawfeg, Kariminejad, Ariana, Kayserili, Hulya, Mojahedi, Faezeh, Kara, Majdi, Cai, Na, Silhavy, Jennifer L, Elsharif, Seham, Fenercioglu, Elif, Barshop, Bruce A, Kara, Bulent, Wang, Rengang, Stanley, Valentina, James, Kiely N, Nachnani, Rahul, Kalur, Aneesha, Megahed, Hisham, Incecik, Faruk, Danda, Sumita, Alanay, Yasemin, Faqeih, Eissa, Melikishvili, Gia, Mansour, Lobna, Miller, Ian, Sukhudyan, Biayna, Chelly, Jamel, Dobyns, William B, Bilguvar, Kaya, Jamra, Rami Abou, Gunel, Murat, Gleeson, Joseph G
المصدر: Nature genetics. 50(8)
مصطلحات موضوعية: Cerebral Cortex, Neurons, Animals, Mice, Inbred C57BL, Humans, Mice, Nerve Tissue Proteins, Pedigree, Cell Movement, Mutation, Genome, Human, alpha Catenin, Actin-Related Protein 2-3 Complex, Embryo, Mammalian, Neurosciences, Rare Diseases, Clinical Research, 2.1 Biological and endogenous factors, Neurological, Developmental Biology, Biological Sciences, Medical and Health Sciences
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/9s51b96f
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2دورية أكاديمية
المؤلفون: Lardelli, Rea M, Schaffer, Ashleigh E, Eggens, Veerle RC, Zaki, Maha S, Grainger, Stephanie, Sathe, Shashank, Van Nostrand, Eric L, Schlachetzki, Zinayida, Rosti, Basak, Akizu, Naiara, Scott, Eric, Silhavy, Jennifer L, Heckman, Laura Dean, Rosti, Rasim Ozgur, Dikoglu, Esra, Gregor, Anne, Guemez-Gamboa, Alicia, Musaev, Damir, Mande, Rohit, Widjaja, Ari, Shaw, Tim L, Markmiller, Sebastian, Marin-Valencia, Isaac, Davies, Justin H, de Meirleir, Linda, Kayserili, Hulya, Altunoglu, Umut, Freckmann, Mary Louise, Warwick, Linda, Chitayat, David, Blaser, Susan, Çağlayan, Ahmet Okay, Bilguvar, Kaya, Per, Huseyin, Fagerberg, Christina, Christesen, Henrik T, Kibaek, Maria, Aldinger, Kimberly A, Manchester, David, Matsumoto, Naomichi, Muramatsu, Kazuhiro, Saitsu, Hirotomo, Shiina, Masaaki, Ogata, Kazuhiro, Foulds, Nicola, Dobyns, William B, Chi, Neil C, Traver, David, Spaccini, Luigina, Bova, Stefania Maria, Gabriel, Stacey B, Gunel, Murat, Valente, Enza Maria, Nassogne, Marie-Cecile, Bennett, Eric J, Yeo, Gene W, Baas, Frank, Lykke-Andersen, Jens, Gleeson, Joseph G
المصدر: Nature Genetics. 49(3)
مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Alleles, Animals, Cerebellar Diseases, Exonucleases, Female, Humans, Male, Mice, Mutation, Neurodegenerative Diseases, Nuclear Proteins, RNA, Messenger, RNA, Small Nuclear, Spliceosomes, Zebrafish, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/0xp8399t
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3دورية أكاديمية
المؤلفون: Akizu, Naiara, Cantagrel, Vincent, Zaki, Maha S, Al-Gazali, Lihadh, Wang, Xin, Rosti, Rasim Ozgur, Dikoglu, Esra, Gelot, Antoinette Bernabe, Rosti, Basak, Vaux, Keith K, Scott, Eric M, Silhavy, Jennifer L, Schroth, Jana, Copeland, Brett, Schaffer, Ashleigh E, Gordts, Philip LSM, Esko, Jeffrey D, Buschman, Matthew D, Field, Seth J, Napolitano, Gennaro, Abdel-Salam, Ghada M, Ozgul, R Koksal, Sagıroglu, Mahmut Samil, Azam, Matloob, Ismail, Samira, Aglan, Mona, Selim, Laila, Mahmoud, Iman G, Abdel-Hadi, Sawsan, Badawy, Amera El, Sadek, Abdelrahim A, Mojahedi, Faezeh, Kayserili, Hulya, Masri, Amira, Bastaki, Laila, Temtamy, Samia, Müller, Ulrich, Desguerre, Isabelle, Casanova, Jean-Laurent, Dursun, Ali, Gunel, Murat, Gabriel, Stacey B, de Lonlay, Pascale, Gleeson, Joseph G
المصدر: Nature Genetics. 47(5)
مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Brain Disorders, Clinical Research, Animals, Atrophy, Autophagy, Cerebellar Diseases, Cerebellum, Child, Preschool, Female, Gene Frequency, Humans, Infant, Lod Score, Lysosomal Storage Diseases, Lysosomes, Male, Mutation, Phagosomes, Sorting Nexins, Spinocerebellar Ataxias, Syndrome, Zebrafish, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology, Genetics
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/57n4q5z6
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4دورية أكاديمية
المؤلفون: Schaffer, Ashleigh E, Eggens, Veerle RC, Caglayan, Ahmet Okay, Reuter, Miriam S, Scott, Eric, Coufal, Nicole G, Silhavy, Jennifer L, Xue, Yuanchao, Kayserili, Hulya, Yasuno, Katsuhito, Rosti, Rasim Ozgur, Abdellateef, Mostafa, Caglar, Caner, Kasher, Paul R, Cazemier, J Leonie, Weterman, Marian A, Cantagrel, Vincent, Cai, Na, Zweier, Christiane, Altunoglu, Umut, Satkin, N Bilge, Aktar, Fesih, Tuysuz, Beyhan, Yalcinkaya, Cengiz, Caksen, Huseyin, Bilguvar, Kaya, Fu, Xiang-Dong, Trotta, Christopher R, Gabriel, Stacey, Reis, André, Gunel, Murat, Baas, Frank, Gleeson, Joseph G
المصدر: Cell. 157(3)
مصطلحات موضوعية: Biochemistry and Cell Biology, Biomedical and Clinical Sciences, Biological Sciences, Neurodegenerative, Genetics, Neurosciences, Aetiology, 2.1 Biological and endogenous factors, Generic health relevance, Neurological, Animals, Brain, Cerebellum, Cleavage And Polyadenylation Specificity Factor, Female, Humans, Male, Mice, Models, Molecular, Neurodegenerative Diseases, Nuclear Proteins, Pedigree, Phosphotransferases, RNA Splicing, RNA, Transfer, Saccharomyces cerevisiae, Transcription Factors, Zebrafish, Zebrafish Proteins, Medical and Health Sciences, Developmental Biology, Biological sciences, Biomedical and clinical sciences
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/1wq430sp
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5دورية أكاديمية
المؤلفون: Novarino, Gaia, El-Fishawy, Paul, Kayserili, Hulya, Meguid, Nagwa A, Scott, Eric M, Schroth, Jana, Silhavy, Jennifer L, Kara, Majdi, Khalil, Rehab O, Ben-Omran, Tawfeg, Ercan-Sencicek, A Gulhan, Hashish, Adel F, Sanders, Stephan J, Gupta, Abha R, Hashem, Hebatalla S, Matern, Dietrich, Gabriel, Stacey, Sweetman, Larry, Rahimi, Yasmeen, Harris, Robert A, State, Matthew W, Gleeson, Joseph G
المصدر: Science. 338(6105)
مصطلحات موضوعية: Autism, Pediatric, Neurodegenerative, Behavioral and Social Science, Intellectual and Developmental Disabilities (IDD), Brain Disorders, Neurosciences, Epilepsy, Genetics, Mental Health, Aetiology, 2.1 Biological and endogenous factors, Neurological, 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide), Adolescent, Amino Acids, Branched-Chain, Animals, Arginine, Autistic Disorder, Base Sequence, Brain, Child, Child, Preschool, Diet, Female, Homozygote, Humans, Intellectual Disability, Male, Mice, Mice, Knockout, Molecular Sequence Data, Mutation, Pedigree, Phosphorylation, Protein Folding, Protein Structure, Tertiary, RNA, Messenger, Young Adult, General Science & Technology
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/5k0515dj
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6دورية أكاديمية
المؤلفون: Ali, Bassam R, Silhavy, Jennifer L, Gleeson, Matthew J, Gleeson, Joseph G, Al-Gazali, Lihadh
المصدر: BMC Medical Genetics. 13(1)
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/1w18981m
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7دورية أكاديمية
المصدر: Orphanet Journal of Rare Diseases. 7(1)
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/2412j18g
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8دورية أكاديمية
المؤلفون: Bielas, Stephanie L, Silhavy, Jennifer L, Brancati, Francesco, Kisseleva, Marina V, Al-Gazali, Lihadh, Sztriha, Laszlo, Bayoumi, Riad A, Zaki, Maha S, Abdel-Aleem, Alice, Rosti, Rasim Ozgur, Kayserili, Hulya, Swistun, Dominika, Scott, Lesley C, Bertini, Enrico, Boltshauser, Eugen, Fazzi, Elisa, Travaglini, Lorena, Field, Seth J, Gayral, Stephanie, Jacoby, Monique, Schurmans, Stephane, Dallapiccola, Bruno, Majerus, Philip W, Valente, Enza Maria, Gleeson, Joseph G
المصدر: Nature Genetics. 41(9)
مصطلحات موضوعية: Biochemistry and Cell Biology, Biological Sciences, Rare Diseases, Pediatric, Congenital Structural Anomalies, Brain Disorders, Acetylation, Amino Acid Substitution, Animals, Base Sequence, Brain, Case-Control Studies, Catalytic Domain, Cell Line, Chromosomes, Human, Pair 9, Cilia, Consanguinity, Culture Media, Serum-Free, Fibroblasts, Genetic Linkage, Green Fluorescent Proteins, Haplotypes, Homozygote, Humans, Hydrolysis, Mice, Mice, Transgenic, Molecular Sequence Data, Mutation, Mutation, Missense, Phosphatidylinositol 4, 5-Diphosphate, Phosphatidylinositol Phosphates, Phosphatidylinositols, Phosphoric Monoester Hydrolases, Physical Chromosome Mapping, Pigment Epithelium of Eye, Polymorphism, Single Nucleotide, Protein Structure, Tertiary, Radiography, Serum, Signal Transduction, Tubulin, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology, Genetics
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/0x17n6jj
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9دورية أكاديمية
المؤلفون: Novarino, Gaia, Fenstermaker, Ali G., Zaki, Maha S., Hofree, Matan, Silhavy, Jennifer L., Heiberg, Andrew D., Abdellateef, Mostafa, Rosti, Basak, Scott, Eric, Mansour, Lobna, Masri, Amira, Kayserili, Hulya, Al-Aama, Jumana Y., Abdel-Salam, Ghada M. H., Karminejad, Ariana, Kara, Majdi, Kara, Bulent, Bozorgmehri, Bita, Ben-Omran, Tawfeg, Mojahedi, Faezeh, Mahmoud, Iman Gamal El Din, Bouslam, Naima, Bouhouche, Ahmed, Benomar, Ali, Hanein, Sylvain, Raymond, Laure, Forlani, Sylvie, Mascaro, Massimo, Selim, Laila, Shehata, Nabil, Al-Allawi, Nasir, Bindu, P.S., Azam, Matloob, Gunel, Murat, Caglayan, Ahmet, Bilguvar, Kaya, Tolun, Aslihan, Issa, Mahmoud Y., Schroth, Jana, Spencer, Emily G., Rosti, Rasim O., Akizu, Naiara, Vaux, Keith K., Johansen, Anide, Koh, Alice A., Megahed, Hisham, Durr, Alexandra, Brice, Alexis, Stevanin, Giovanni, Gabriel, Stacy B., Ideker, Trey, Gleeson, Joseph G.
المصدر: Science, 2014 Jan . 343(6170), 506-511.
URL الوصول: http://www.jstor.org/stable/24742862
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10دورية أكاديمية
المؤلفون: Roosing, Susanne, Rosti, Rasim O., Rosti, Basak, de Vrieze, Erik, Silhavy, Jennifer L., van Wijk, Erwin, Wakeling, Emma, Gleeson, Joseph G.
المصدر: Human Genetics. August 2016 135(8):919-921