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1دورية أكاديمية
المؤلفون: Musaev, Damir, Abdelmessih, Mario, Vejnar, Charles E., Yartseva, Valeria, Weiss, Linnea A., Strayer, Ethan C., Takacs, Carter M., Giraldez, Antonio J.
المساهمون: NIH
المصدر: Cell Reports ; volume 43, issue 4, page 114074 ; ISSN 2211-1247
مصطلحات موضوعية: General Biochemistry, Genetics and Molecular Biology
الإتاحة: https://doi.org/10.1016/j.celrep.2024.114074Test
https://api.elsevier.com/content/article/PII:S2211124724004029?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2211124724004029?httpAccept=text/plainTest -
2دورية أكاديمية
المؤلفون: Coulter, Michael E, Musaev, Damir, DeGennaro, Ellen M, Zhang, Xiaochang, Henke, Katrin, James, Kiely N, Smith, Richard S, Hill, R Sean, Partlow, Jennifer N, Muna Al-Saffar, Kamumbu, A Stacy, Hatem, Nicole, Barkovich, A James, Aziza, Jacqueline, Chassaing, Nicolas, Zaki, Maha S, Sultan, Tipu, Burglen, Lydie, Rajab, Anna, Al-Gazali, Lihadh, Mochida, Ganeshwaran H, Harris, Matthew P, Gleeson, Joseph G, Walsh, Christopher A
المصدر: Genetics in Medicine. 22(6)
مصطلحات موضوعية: Genetics, Pediatric, Brain Disorders, Congenital Structural Anomalies, Rare Diseases, Mental Health, Neurodegenerative, Neurosciences, Clinical Research, Intellectual and Developmental Disabilities (IDD), 1.1 Normal biological development and functioning, 2.1 Biological and endogenous factors, Aetiology, Underpinning research, Neurological, Animals, Brain Diseases, Cell Proliferation, Homozygote, Humans, Mice, Microcephaly, Zebrafish, exocyst, EXOC7, EXOC8, microcephaly, developmental delay, Clinical Sciences, Genetics & Heredity
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/5tn3w50fTest
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3دورية أكاديمية
المؤلفون: Breuss, Martin W, Antaki, Danny, George, Renee D, Kleiber, Morgan, James, Kiely N, Ball, Laurel L, Hong, Oanh, Mitra, Ileena, Yang, Xiaoxu, Wirth, Sara A, Gu, Jing, Garcia, Camila AB, Gujral, Madhusudan, Brandler, William M, Musaev, Damir, Nguyen, An, McEvoy-Venneri, Jennifer, Knox, Renatta, Sticca, Evan, Botello, Martha Cristina Cancino, Uribe Fenner, Javiera, Pérez, Maria Cárcel, Arranz, Maria, Moffitt, Andrea B, Wang, Zihua, Hervás, Amaia, Devinsky, Orrin, Gymrek, Melissa, Sebat, Jonathan, Gleeson, Joseph G
المصدر: Nature Medicine. 26(1)
مصطلحات موضوعية: Biomedical and Clinical Sciences, Mental Health, Serious Mental Illness, Autism, Intellectual and Developmental Disabilities (IDD), Genetics, Human Genome, Pediatric, Brain Disorders, Contraception/Reproduction, 2.1 Biological and endogenous factors, Aetiology, Autistic Disorder, Female, Genetic Predisposition to Disease, Humans, Male, Mosaicism, Mutation, Pedigree, Polymorphism, Single Nucleotide, Recurrence, Risk Factors, Spermatozoa, Medical and Health Sciences, Immunology, Biomedical and clinical sciences, Health sciences
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/33p6091gTest
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4دورية أكاديمية
المؤلفون: Friedman, Jennifer, Smith, Desiree E, Issa, Mahmoud Y, Stanley, Valentina, Wang, Rengang, Mendes, Marisa I, Wright, Meredith S, Wigby, Kristen, Hildreth, Amber, Crawford, John R, Koehler, Alanna E, Chowdhury, Shimul, Nahas, Shareef, Zhai, Liting, Xu, Zhiwen, Lo, Wing-Sze, James, Kiely N, Musaev, Damir, Accogli, Andrea, Guerrero, Kether, Tran, Luan T, Omar, Tarek EI, Ben-Omran, Tawfeg, Dimmock, David, Kingsmore, Stephen F, Salomons, Gajja S, Zaki, Maha S, Bernard, Geneviève, Gleeson, Joseph G
المصدر: Nature communications. 10(1)
مصطلحات موضوعية: Humans, Microcephaly, Epilepsy, Disease Progression, Genetic Predisposition to Disease, Valine-tRNA Ligase, RNA, Transfer, Anticodon, Longitudinal Studies, Pedigree, Protein Biosynthesis, Mutation, Alleles, Models, Molecular, Child, Child, Preschool, Female, Male, Protein Interaction Domains and Motifs, Neurodevelopmental Disorders, Whole Genome Sequencing, Whole Exome Sequencing, Loss of Function Mutation, Neurodegenerative, Intellectual and Developmental Disabilities (IDD), Pediatric, Rare Diseases, Genetics, Neurosciences, Brain Disorders, 2.1 Biological and endogenous factors
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/7527h1v1Test
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5دورية أكاديمية
المؤلفون: Breuss, Martin W, Nguyen, An, Song, Qiong, Nguyen, Thai, Stanley, Valentina, James, Kiely N, Musaev, Damir, Chai, Guoliang, Wirth, Sara A, Anzenberg, Paula, George, Renee D, Johansen, Anide, Ali, Shaila, Zia-ur-Rehman, Muhammad, Sultan, Tipu, Zaki, Maha S, Gleeson, Joseph G
المصدر: American Journal of Human Genetics. 103(2)
مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Neurosciences, Brain Disorders, Genetics, Pediatric, Clinical Research, Intellectual and Developmental Disabilities (IDD), Neurodegenerative, 2.1 Biological and endogenous factors, Aetiology, Neurological, Adolescent, Animals, Atrophy, Cell Differentiation, Child, Corpus Callosum, Endoplasmic Reticulum, Female, Homeodomain Proteins, Humans, Infant, Intellectual Disability, Male, Membrane Proteins, Mice, Muscle Hypotonia, Mutation, Phenotype, Psychomotor Disorders, Stem Cells, KIAA1715, corpus callosum hypoplasia, endoplasmic reticulum, epilepsy, human genetics, hypotonia, lunapark, organelle morphology, recessive disease, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/2h03q2mxTest
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6دورية 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
الوصول الحر: https://escholarship.org/uc/item/9s51b96fTest
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7دورية أكاديمية
المؤلفون: Marin-Valencia, Isaac, Gerondopoulos, Andreas, Zaki, Maha S, Ben-Omran, Tawfeg, Almureikhi, Mariam, Demir, Ercan, Guemez-Gamboa, Alicia, Gregor, Anne, Issa, Mahmoud Y, Appelhof, Bart, Roosing, Susanne, Musaev, Damir, Rosti, Basak, Wirth, Sara, Stanley, Valentina, Baas, Frank, Barr, Francis A, Gleeson, Joseph G
المصدر: American Journal of Human Genetics. 101(3)
مصطلحات موضوعية: Biochemistry and Cell Biology, Biological Sciences, Clinical Research, Neurosciences, Genetics, Adolescent, Animals, Cerebellar Diseases, Child, Child, Preschool, Female, GTPase-Activating Proteins, HeLa Cells, Homozygote, Humans, Male, Microcephaly, Mutation, Pedigree, Phenotype, Zebrafish, Hela Cells, TBC1D23, ataxia, intellectual disability, microcephaly, pontocerebellar hypoplasia, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/1hf0v9cnTest
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8دورية 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
الوصول الحر: https://escholarship.org/uc/item/0xp8399tTest
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9دورية أكاديمية
المؤلفون: Breuss, Martin W, Nguyen, Thai, Srivatsan, Anjana, Leca, Ines, Tian, Guoling, Fritz, Tanja, Hansen, Andi H, Musaev, Damir, McEvoy-Venneri, Jennifer, James, Kiely N, Rosti, Rasim O, Scott, Eric, Tan, Uner, Kolodner, Richard D, Cowan, Nicholas J, Keays, David A, Gleeson, Joseph G
المصدر: Human Molecular Genetics. 26(2)
مصطلحات موضوعية: Neurosciences, Genetics, 2.1 Biological and endogenous factors, Aetiology, Congenital, Adult, Amino Acid Substitution, Basal Ganglia, Brain, Cerebellum, Developmental Disabilities, Female, Homozygote, Humans, Male, Malformations of Cortical Development, Microtubules, Mutation, Nervous System Malformations, Phenotype, Saccharomyces cerevisiae, Tubulin, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/8qd1h1f6Test
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10دورية أكاديمية
المؤلفون: Breuss, Martin W, Sultan, Tipu, James, Kiely N, Rosti, Rasim O, Scott, Eric, Musaev, Damir, Furia, Bansri, Reis, André, Sticht, Heinrich, Al-Owain, Mohammed, Alkuraya, Fowzan S, Reuter, Miriam S, Jamra, Rami Abou, Trotta, Christopher R, Gleeson, Joseph G
المصدر: American Journal of Human Genetics. 99(1)
مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Brain Disorders, Genetics, Intellectual and Developmental Disabilities (IDD), Neurosciences, Pediatric, Rare Diseases, 2.1 Biological and endogenous factors, Aetiology, Neurological, Amino Acid Sequence, Cerebellar Diseases, Child, Child, Preschool, Endonucleases, Female, Genes, Recessive, Humans, Infant, Infant, Newborn, Male, Microcephaly, Models, Molecular, Mutation, Pedigree, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/5rp3661jTest