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

المؤلفون: Sevigny, Jeffrey, Uspenskaya, Olga, Heckman, Laura Dean, Wong, Li Chin, Hatch, Daniel A., Tewari, Ambika, Vandenberghe, Rik, Irwin, David J., Saracino, Dario, Le Ber, Isabelle, Ahmed, Rebekah, Rohrer, Jonathan D., Boxer, Adam L., Boland, Sebastian, Sheehan, Patricia, Brandes, Alissa, Burstein, Suzanne R., Shykind, Benjamin M., Kamalakaran, Sitharthan, Daniels, Carter W., David Litwack, E., Mahoney, Erin, Velaga, Jenny, McNamara, Ilan, Sondergaard, Patricia, Sajjad, Syed A., Kobayashi, Yvonne M., Abeliovich, Asa, Hefti, Franz

المصدر: Nature Medicine; May 2024, Vol. 30 Issue: 5 p1406-1415, 10p

المؤلفون: Heckman, Laura Dean, Rosti, Rasim Ozgur, Dikoglu, Esra, Gregor, Anne, Guemez-Gamboa, Alicia, Musaev, Damir, Eggens, Veerle R. C., Schaffer, Ashleigh E., Lardelli, Rea M., Akizu, Naiara, Scott, Eric, Silhavy, Jennifer L., Schlachetzki, Zinayida, Van Nostrand, Eric L., Sathe, Shashank, Grainger, Stephanie, Zaki, Maha S., Blaser, Susan, 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, Dobyns, William B., Chi, Neil C., Traver, David, Spaccini, Luigina, Bova, Stefania Maria, Gabrie, Stacey B., Gunel, Murat, Valente, Enza Maria, Nassogne, Marie-Cecile, Bennett, Eric J., Yeo, Gene W., Baas, Frank, Lykke-Andersen, Jens, Gleeson, Joseph G., Davies, Justin H., Foulds, Nicola, Rosti, Basak, ÇAĞLAYAN, AHMET OKAY, Mande, Rohit, Widjaja, Ari, Shaw, Tim L., Markmiller, Sebastian, Marin-Valencia, Isaac, de Meirleir, Linda, Kayserili, Hulya, Altunoglu, Umut, Freckmann, Mary Louise, Warwick, Linda, Chitayat, David

العلاقة: 794afd61-8a73-4521-9a7c-0388d3347c22; https://avesis.deu.edu.tr/publication/details/794afd61-8a73-4521-9a7c-0388d3347c22/oaiTest

الإتاحة: https://doi.org/10.1038/ng.3762Test
https://avesis.deu.edu.tr/publication/details/794afd61-8a73-4521-9a7c-0388d3347c22/oaiTest

المؤلفون: Heckman, Laura Dean, Chahrour, Maria H, Zoghbi, Huda Y

المساهمون: National Institute of Neurological Disorders and Stroke, Mouse Neurobehavior Core of the Baylor College of Medicine Intellectual and Developmental Disabilities Research Center, National Institute of General Medical Sciences, Howard Hughes Medical Institute

المصدر: eLife ; volume 3 ; ISSN 2050-084X

الإتاحة: https://doi.org/10.7554/elife.02676Test
https://cdn.elifesciences.org/articles/02676/elife-02676-v2.pdfTest
https://cdn.elifesciences.org/articles/02676/elife-02676-v2.xmlTest
https://elifesciences.org/articles/02676Test

المؤلفون: Lardelli, Rea M., Schaffer, Ashleigh E., Eggens, Veerle R. C., 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, Caglayan, 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, Gabrie, Stacey B., Gunel, Murat, Nassogne, Marie Cecile, Bennett, Eric J., Yeo, Gene W., Baas, Frank, Lykke Andersen, Jens, Gleeson, Joseph G., VALENTE, ENZA MARIA

المساهمون: Lardelli, Rea M., Schaffer, Ashleigh E., Eggens, Veerle R. C., 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, Caglayan, 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, Gabrie, Stacey B., Gunel, Murat, Valente, ENZA MARIA, Nassogne, Marie Cecile, Bennett, Eric J., Yeo, Gene W., Baas, Frank, Lykke Andersen, Jen, Gleeson, Joseph G.

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/28092684; info:eu-repo/semantics/altIdentifier/wos/WOS:000394917800021; volume:49; issue:3; firstpage:457; lastpage:464; numberofpages:8; journal:NATURE GENETICS; http://hdl.handle.net/11571/1177993Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85009798889

الإتاحة: https://doi.org/10.1038/ng.3762Test
http://hdl.handle.net/11571/1177993Test

المؤلفون: Christesen, Henrik T., Sathe, Shashank, Van Nostrand, Eric L., Schlachetzki, Zinayida, Rosti, Basak, Akizu, Naiara, Scott, Eric, Silhavy, Jennifer L., Heckman, Laura Dean, Dikoglu, Esra, Gregor, Anne, Muramatsu, Kazuhiro, Saitsu, Hirotomo, Shiina, Masaaki, Ogata, Kazuhiro, Foulds, Nicola, Dobyns, William B., Chi, Neil C., Traver, David, Spaccini, Luigina, Bova, Stefania Maria, Gabrie, Stacey B., Gunel, Murat, Valente, Enza Maria, Nassogne, Marie-Cecile, Bennett, Eric J., Yeo, Gene W., Baas, Frank, Lykke-Andersen, Jens, Gleeson, Joseph G., Bilguvar, Kaya, Altunoglu, Umut, Rosti, Rasim Ozgur, 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, Freckmann, Mary Louise, Warwick, Linda, Chitayat, David, Blaser, Susan, Caglayan, Ahmet Okay, PER, HÜSEYİN, Fagerberg, Christina, Kibaek, Maria, Aldinger, Kimberly A., Manchester, David, Matsumoto, Naomichi, Lardelli, Rea M., Schaffer, Ashleigh E., Eggens, Veerle R. C., Zaki, Maha S., Grainger, Stephanie

المساهمون: University of California System ,, 241456

مصطلحات موضوعية: Dahili Tıp Bilimleri, Tıbbi Genetik, Yaşam Bilimleri, Moleküler Biyoloji ve Genetik, Temel Bilimler, GENETİK VE HAYAT, Yaşam Bilimleri (LIFE), Tıp, Sağlık Bilimleri

العلاقة: NATURE GENETICS; Lardelli R. M. , Schaffer A. E. , Eggens V. R. C. , Zaki M. S. , Grainger S., Sathe S., Van Nostrand E. L. , Schlachetzki Z., Rosti B., Akizu N., et al., "Biallelic mutations in the 3 ' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing", NATURE GENETICS, cilt.49, sa.3, ss.457-464, 2017; av_794afd61-8a73-4521-9a7c-0388d3347c22; vv_1032021; http://hdl.handle.net/20.500.12627/83138Test; https://doi.org/10.1038/ng.3762Test; 49; 457; 464

الإتاحة: https://doi.org/20.500.12627/83138Test
https://doi.org/10.1038/ng.3762Test
https://hdl.handle.net/20.500.12627/83138Test

المؤلفون: Heckman, Laura Dean, Chahrour, Maria H, Zoghbi, Huda Y

الإتاحة: https://doi.org/10.7554/elife.02676.011Test