المؤلفون: Zhang, Ce, Liang, Dan, Ercan-Sencicek, A Gulhan, Bulut, Aybike S, Cortes, Joelly, Cheng, Iris Q, Henegariu, Octavian, Nishimura, Sayoko, Wang, Xinyuan, Peksen, A Buket, Takeo, Yutaka, Caglar, Caner, Lam, TuKiet T, Koroglu, Merve Nur, Narayanan, Anand, Lopez-Giraldez, Francesc, Miyagishima, Danielle F, Mishra-Gorur, Ketu, Barak, Tanyeri, Yasuno, Katsuhito, Erson-Omay, E Zeynep, Yalcinkaya, Cengiz, Wang, Guilin, Mane, Shrikant, Kaymakcalan, Hande, Guzel, Aslan, Caglayan, A Okay, Tuysuz, Beyhan, Sestan, Nenad, Gunel, Murat, Louvi, Angeliki, Bilguvar, Kaya

المصدر: Nature ; ISSN:1476-4687

Relation: https://doi.org/10.1038/s41586-024-08341-9; https://pubmed.ncbi.nlm.nih.gov/39743596

الاتاحة: https://doi.org/10.1038/s41586-024-08341-9
https://pubmed.ncbi.nlm.nih.gov/39743596

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

المؤلفون: Gunel, Murat, Yesildag-Hasancebi, Funda

المصدر: Educational Sciences: Theory and Practice. Feb 2016 16(1):109-126.

Peer Reviewed: Y

Page Count: 18

Descriptors: Foreign Countries, Science Education, Learning Processes, Visual Aids, Writing (Composition), Learning Activities

مصطلحات جغرافية: Turkey

المؤلفون: Cali, Elisa, Suri, Mohnish, Scala, Marcello, Ferla, Matteo P, Alavi, Shadryar, Ali Faqeih, Eissa, Bijlsma, Emilia K, Wigby, Kristen M, Baralle, Diana, Mehrjardi, Mohammad Yahya Vahidi, Schwab, Jennifer, Platzer, Konrad, Steindl, Katharina, Hashem, Mais, Jones, Marilyn, Niyazov, Dmitriy M, Jacober, Jennifer, Littlejohn, Rebecca O., Weis, Denisa, Zadeh, Neda, Rodan, Lance, Goldenberg, Alice, Lecoquierre, Francois, Dutra-Clarke, Marina, Horvarth, Gabriella, Young, Dana, Orenstein, Naama, Bawazeer, Shahad, Vulto-van Silfhout, A.T., Herenger, Yvan, Dehghanian, M., Seyedhassani, Seyed Mohammad, Bahreini, Amir, Nasab, Mahya Ebrahimi, Ercan-Sencicek, A Gulhan, Firoozfar, Zahra, Movahedinia, Mojtaba, Efthymiou, Stephanie, Striano, Pasquale, Karimiani, Ehsan Ghayoor, Salpietro, Vincenzo, Taylor, Jenny C., Redman, Melody, Stegmann, Alexander P.A., Laner, Andrea, Abdel-Salam, Ghada, Li, Megan, Bengala, Mario, Muller, Amelie Johanna, Digilio, Maria Cristina, Rauch, Anita, Gunel, Murat, Titheradge, Hannah, Schweitzer, Daniela N, Kraus, Alison, Valenzuela, Irene, Mclean, Scott D, Phornphutkul, Chanika, Salih, Mustafa, Begtrup, Amber, Schnur, Rhonda E, Torti, Erin, Haack, Tobias B, Prada, Carlos E, Alkuraya, Fowzan S, Houlden, Henry, Maroofian, Reza

وصف الملف: text

Relation: https://eprints.soton.ac.uk/472172/1/Manuscript_revised_cleanversion.docx; https://eprints.soton.ac.uk/472172/2/PIIS1098360022009546.pdf; Cali, Elisa, Suri, Mohnish, Scala, Marcello, Ferla, Matteo P, Alavi, Shadryar, Ali Faqeih, Eissa, Bijlsma, Emilia K, Wigby, Kristen M, Baralle, Diana, Mehrjardi, Mohammad Yahya Vahidi, Schwab, Jennifer, Platzer, Konrad, Steindl, Katharina, Hashem, Mais, Jones, Marilyn, Niyazov, Dmitriy M, Jacober, Jennifer, Littlejohn, Rebecca O., Weis, Denisa, Zadeh, Neda, Rodan, Lance, Goldenberg, Alice, Lecoquierre, Francois, Dutra-Clarke, Marina, Horvarth, Gabriella, Young, Dana, Orenstein, Naama, Bawazeer, Shahad, Vulto-van Silfhout, A.T., Herenger, Yvan, Dehghanian, M., Seyedhassani, Seyed Mohammad, Bahreini, Amir, Nasab, Mahya Ebrahimi, Ercan-Sencicek, A Gulhan, Firoozfar, Zahra, Movahedinia, Mojtaba, Efthymiou, Stephanie, Striano, Pasquale, Karimiani, Ehsan Ghayoor, Salpietro, Vincenzo, Taylor, Jenny C., Redman, Melody, Stegmann, Alexander P.A., Laner, Andrea, Abdel-Salam, Ghada, Li, Megan, Bengala, Mario, Muller, Amelie Johanna, Digilio, Maria Cristina, Rauch, Anita, Gunel, Murat, Titheradge, Hannah, Schweitzer, Daniela N, Kraus, Alison, Valenzuela, Irene, Mclean, Scott D, Phornphutkul, Chanika, Salih, Mustafa, Begtrup, Amber, Schnur, Rhonda E, Torti, Erin, Haack, Tobias B, Prada, Carlos E, Alkuraya, Fowzan S, Houlden, Henry and Maroofian, Reza (2023) Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities. Genetics in Medicine, 25 (1), 135-142. (doi:10.1016/j.gim.2022.09.016 ).

الاتاحة: https://eprints.soton.ac.uk/472172/
https://eprints.soton.ac.uk/472172/1/Manuscript_revised_cleanversion.docx
https://eprints.soton.ac.uk/472172/2/PIIS1098360022009546.pdf

المؤلفون: Kundishora, Adam J, Allington, Garrett, McGee, Stephen, Mekbib, Kedous Y, Gainullin, Vladimir, Timberlake, Andrew T, Nelson-Williams, Carol, Kiziltug, Emre, Smith, Hannah, Ocken, Jack, Shohfi, John, Allocco, August, Duy, Phan Q, Elsamadicy, Aladine A, Dong, Weilai, Zhao, Shujuan, Wang, Yung-Chun, Qureshi, Hanya M, DiLuna, Michael L, Mane, Shrikant, Tikhonova, Irina R, Fu, Po-Ying, Castaldi, Christopher, López-Giráldez, Francesc, Knight, James R, Furey, Charuta G, Carter, Bob S, Haider, Shozeb, Moreno-De-Luca, Andres, Alper, Seth L, Gunel, Murat, Millan, Francisca, Lifton, Richard P, Torene, Rebecca I, Jin, Sheng Chih, Kahle, Kristopher T

المصدر: Nature Medicine , 29 pp. 667-678. (2023)

مصطلحات موضوعية: Brain, Development of the nervous system, Disease genetics, Medical genomics

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10166692/1/147973_0_art_file_1133662_rcbb0h.pdf; https://discovery.ucl.ac.uk/id/eprint/10166692/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10166692/1/147973_0_art_file_1133662_rcbb0h.pdf
https://discovery.ucl.ac.uk/id/eprint/10166692/

المؤلفون: Khoshkhoo, Sattar, Wang, Yilan, Chahine, Yasmine, Erson-Omay, E. Zeynep, Robert, Stephanie M., Kiziltug, Emre, Damisah, Eyiyemisi C., Nelson-Williams, Carol, Zhu, Guangya, Kong, Wenna, Huang, August Yue, Stronge, Edward, Phillips, H. Westley, Chhouk, Brian H., Bizzotto, Sara, Chen, Ming Hui, Adikari, Thiuni N., Ye, Zimeng, Witkowski, Tom, Lai, Dulcie, Lee, Nadine, Lokan, Julie, Scheffer, Ingrid E., Berkovic, Samuel F., Haider, Shozeb, Hildebrand, Michael S., Yang, Edward, Gunel, Murat, Lifton, Richard P., Richardson, R. Mark, Bl¼mcke, Ingmar, Alexandrescu, Sanda, Huttner, Anita, Heinzen, Erin L., Zhu, Jidong, Poduri, Annapurna, DeLanerolle, Nihal, Spencer, Dennis D., Lee, Eunjung Alice, Walsh, Christopher A., Kahle, Kristopher T.

المصدر: JAMA Neurology, 80(6)

مصطلحات موضوعية: Female, Mitogen-Activated Protein Kinases, Male, Middle Aged, Humans, Epilepsy, Drug Resistant Epilepsy, Temporal Lobe, Retrospective Studies, Adult, Neocortex, Hippocampus

Relation: https://doi.org/10.17615/8ahz-cx55; https://cdr.lib.unc.edu/downloads/wm118048x?file=thumbnail; https://cdr.lib.unc.edu/downloads/wm118048x

الاتاحة: https://doi.org/10.17615/8ahz-cx55
https://cdr.lib.unc.edu/downloads/wm118048x?file=thumbnail
https://cdr.lib.unc.edu/downloads/wm118048x

المؤلفون: Tabor, Joanna, Chavez, Miguel Millares, O'Brien, Joseph, Morales-Valero, Saul, Pappajohn, Alexandros, McGuone, Declan, Erson-Omay, Zeynep, Yasuno, Katsuhito, Gunel, Murat, Moliterno, Jennifer

المصدر: Neuro-Oncology ; volume 25, issue Supplement_5, page v134-v135 ; ISSN 1522-8517 1523-5866

الاتاحة: https://doi.org/10.1093/neuonc/noad179.0509
https://academic.oup.com/neuro-oncology/article-pdf/25/Supplement_5/v134/53254147/noad179.0509.pdf

المؤلفون: Robert, Stephanie M., Reeves, Benjamin C., Kiziltug, Emre, Duy, Phan Q., Karimy, Jason K., Mansuri, M. Shahid, Marlier, Arnaud, Allington, Garrett, Greenberg, Ana B.W., DeSpenza, Tyrone, Singh, Amrita K., Zeng, Xue, Mekbib, Kedous Y., Kundishora, Adam J., Nelson-Williams, Carol, Hao, Le Thi, Zhang, Jinwei, Lam, TuKiet T., Wilson, Rashaun, Butler, William E., Diluna, Michael L., Feinberg, Philip, Schafer, Dorothy P., Movahedi, Kiavash, Tannenbaum, Allen, Koundal, Sunil, Chen, Xinan, Benveniste, Helene, Limbrick, David D., Schiff, Steven J., Carter, Bob S., Gunel, Murat, Simard, J. Marc, Lifton, Richard P., Alper, Seth L., Delpire, Eric, Kahle, Kristopher T.

المصدر: Cell ; volume 186, issue 4, page 764-785.e21 ; ISSN 0092-8674

الاتاحة: http://dx.doi.org/10.1016/j.cell.2023.01.017
https://api.elsevier.com/content/article/PII:S0092867423000478?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0092867423000478?httpAccept=text/plain

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, Pediatric, 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
https://escholarship.org/content/qt0xp8399t/qt0xp8399t.pdf

المؤلفون: Gunel, Murat

Thesis Advisors: Kayran, Altan

مصطلحات موضوعية: TL Aeronautics, Aeronautical Engineering 500-777, Progressive Failure Analysis, Composite Aerospace Structures, Non-linear Deformation, Material Property Degradation, Nastran PCL Code

وصف الملف: text/pdf

الاتاحة: http://etd.lib.metu.edu.tr/upload/12614033/index.pdf

المؤلفون: Gunel, Murat

الاتاحة: http://proxy.lib.iastate.edu:2048/login?url=http://gateway.proquest.com/openurl?url_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:dissertation&res_dat=xri:pqdiss&rft_dat=xri:pqdiss:3217271

المؤلفون: Li, Hongda, Bielas, Stephanie L, Zaki, Maha S, Ismail, Samira, Farfara, Dorit, Um, Kyongmi, Rosti, Rasim O, Scott, Eric C, Tu, Shu, Chi, Neil C, Gabriel, Stacey, Erson-Omay, Emine Z, Ercan-Sencicek, A Gulhan, Yasuno, Katsuhito, Çağlayan, Ahmet Okay, Kaymakçalan, Hande, Ekici, Barış, Bilguvar, Kaya, Gunel, Murat, Gleeson, Joseph G

المصدر: American Journal of Human Genetics. 99(2)

مصطلحات موضوعية: Biochemistry and Cell Biology, Biological Sciences, Genetics, Brain Disorders, Stem Cell Research - Induced Pluripotent Stem Cell - Human, Rare Diseases, Pediatric, Stem Cell Research, Intellectual and Developmental Disabilities (IDD), Stem Cell Research - Induced Pluripotent Stem Cell, Congenital Structural Anomalies, 2.1 Biological and endogenous factors, Aetiology, Neurological, Alleles, Apoptosis, Centrosome, Child, Child, Preschool, Cytokinesis, Female, Genes, Recessive, Humans, Infant, Newborn, Intracellular Signaling Peptides and Proteins, Male, Microcephaly, Mitosis, Mutation, Missense, Pedigree, Protein Serine-Threonine Kinases, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/6p94w25r

المؤلفون: Demirbag, Mehmet, Gunel, Murat

المصدر: Educational Sciences: Theory and Practice. 2014 14(1):386-391.

Peer Reviewed: Y

Page Count: 6

Descriptors: Science Achievement, Science Instruction, Writing Skills, Persuasive Discourse, Foreign Countries, Science Tests, Scores, Qualitative Research, Statistical Analysis, Laboratory Experiments, College Students, Teaching Methods, Outcomes of Education, Quasiexperimental Design

مصطلحات جغرافية: Turkey

المؤلفون: Cali, Elisa, Suri, Mohnish, Scala, Marcello, Ferla, Matteo P, Alavi, Shahryar, Faqeih, Eissa Ali, Bijlsma, Emilia K, Wigby, Kristen M, Baralle, Diana, Mehrjardi, Mohammad YV, Schwab, Jennifer, Platzer, Konrad, Steindl, Katharina, Hashem, Mais, Jones, Marilyn, Niyazov, Dmitriy M, Jacober, Jennifer, Littlejohn, Rebecca Okashah, Weis, Denisa, Zadeh, Neda, Rodan, Lance, Goldenberg, Alice, Lecoquierre, François, Dutra-Clarke, Marina, Horvath, Gabriella, Young, Dana, Orenstein, Naama, Bawazeer, Shahad, Vulto-van Silfhout, Anneke T, Herenger, Yvan, Dehghani, Mohammadreza, Seyedhassani, Seyed Mohammad, Bahreini, Amir, Nasab, Mahya E, Ercan-Sencicek, A Gulhan, Firoozfar, Zahra, Movahedinia, Mojtaba, Efthymiou, Stephanie, Striano, Pasquale, Karimiani, Ehsan Ghayoor, Salpietro, Vincenzo, Taylor, Jenny C, Redman, Melody, Stegmann, Alexander PA, Laner, Andreas, Abdel-Salam, Ghada, Li, Megan, Bengala, Mario, Müller, Amelie Johanna, Digilio, Maria C, Rauch, Anita, Gunel, Murat, Titheradge, Hannah, Schweitzer, Daniela N, Kraus, Alison, Valenzuela, Irene, McLean, Scott D, Phornphutkul, Chanika, Salih, Mustafa, Begtrup, Amber, Schnur, Rhonda E, Torti, Erin, Haack, Tobias B, Prada, Carlos E, Alkuraya, Fowzan S, Houlden, Henry, Maroofian, Reza

المصدر: Genetics in Medicine (2022) (In press).

مصطلحات موضوعية: Chromatinopathy, Mendelian disorders of the epigenetic machinery, PRMT7, Syndromic neurodevelopmental disorder, Syndromic obesity

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10160152/1/Maroofian_Biallelic%20PRMT7%20pathogenic%20variants%20are%20associated%20with%20a%20recognizable%20syndromic%20neurodevelopmental%20disorder%20with%20short%20stature,%20obesity,%20and%20craniofacial%20and%20digital%20abnormalitie_AOP.pdf.pdf; https://discovery.ucl.ac.uk/id/eprint/10160152/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10160152/1/Maroofian_Biallelic%20PRMT7%20pathogenic%20variants%20are%20associated%20with%20a%20recognizable%20syndromic%20neurodevelopmental%20disorder%20with%20short%20stature,%20obesity,%20and%20craniofacial%20and%20digital%20abnormalitie_AOP.pdf.pdf
https://discovery.ucl.ac.uk/id/eprint/10160152/

المؤلفون: Caglayan, Ahmet Okay, Tuysuz, Beyhan, Gul, Ece, Alkaya, Dilek Uludag, Yalcinkaya, Cengiz, Gleeson, Joseph G., Gunel, Murat

مصطلحات موضوعية: Spinal Muscular-Atrophy, Diagnostic-Criteria, Motor Adapter, Gene Mutation, Delineation, Phenotype

Relation: Journal of Human Genetics; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://doi.org/10.1038/s10038-022-01032-1; https://hdl.handle.net/20.500.12831/7882; 67; 553; 556; WOS:000773170000001; 2-s2.0-85127236808

الاتاحة: https://doi.org/10.1038/s10038-022-01032-1
https://hdl.handle.net/20.500.12831/7882

المؤلفون: Dong, Weilai, Kaymakcalan, Hande, Jin, Sheng Chih, Diab, Nicholas S., Tanıdır, Cansaran, Yalcin, Ali Seyfi Yalim, Ercan‐Sencicek, A. Gulhan, Mane, Shrikant, Gunel, Murat, Lifton, Richard P., Bilguvar, Kaya, Brueckner, Martina

المساهمون: American Heart Association, National Institutes of Health, National Heart, Lung, and Blood Institute, National Human Genome Research Institute

المصدر: Molecular Genetics & Genomic Medicine ; volume 10, issue 6 ; ISSN 2324-9269 2324-9269

الاتاحة: http://dx.doi.org/10.1002/mgg3.1944
https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1944
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/mgg3.1944

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

المؤلفون: Shenkar, Robert, Shi, Changbin, Rebeiz, Tania, Stockton, Rebecca A, McDonald, David A, Mikati, Abdul Ghani, Zhang, Lingjiao, Austin, Cecilia, Akers, Amy L, Gallione, Carol J, Rorrer, Autumn, Gunel, Murat, Min, Wang, Marcondes de Souza, Jorge, Lee, Connie, Marchuk, Douglas A, Awad, Issam A

المصدر: Genetics in Medicine. 17(3)

مصطلحات موضوعية: Neurosciences, Rare Diseases, Brain Disorders, Development of treatments and therapeutic interventions, Aetiology, 2.1 Biological and endogenous factors, 5.1 Pharmaceuticals, 1-(5-Isoquinolinesulfonyl)-2-Methylpiperazine, Adolescent, Adult, Animals, Apoptosis Regulatory Proteins, Carrier Proteins, Cells, Cultured, Central Nervous System Neoplasms, Child, Child, Preschool, Disease Models, Animal, Hemangioma, Cavernous, Central Nervous System, Human Umbilical Vein Endothelial Cells, Humans, Infant, Intracellular Signaling Peptides and Proteins, Keratin-1, Membrane Proteins, Mice, Middle Aged, Mutation, Prospective Studies, Proto-Oncogene Proteins, Stress Fibers, Young Adult, rho-Associated Kinases, CCM3, cerebral cavernous malformation, PDCD10, Rho kinase, vascular malformations, Genetics, Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/0cs6m4h5

المؤلفون: Ercan-Sencicek, A Gulhan, Jambi, Samira, Franjic, Daniel, Nishimura, Sayoko, Li, Mingfeng, El-Fishawy, Paul, Morgan, Thomas M, Sanders, Stephan J, Bilguvar, Kaya, Suri, Mohnish, Johnson, Michele H, Gupta, Abha R, Yuksel, Zafer, Mane, Shrikant, Grigorenko, Elena, Picciotto, Marina, Alberts, Arthur S, Gunel, Murat, Šestan, Nenad, State, Matthew W

المصدر: European Journal of Human Genetics. 23(2)

مصطلحات موضوعية: Biochemistry and Cell Biology, Genetics, Biological Sciences, Pediatric, Neurosciences, Brain Disorders, Intellectual and Developmental Disabilities (IDD), Aetiology, 2.1 Biological and endogenous factors, Adaptor Proteins, Signal Transducing, Adolescent, Adult, Animals, Brain, Carrier Proteins, Cell Line, Child, Child, Preschool, Codon, Nonsense, Female, Formins, Homozygote, Humans, Infant, Male, Mice, Microcephaly, Pedigree, Clinical Sciences, Genetics & Heredity, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/3ds760kb

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