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, ÇaÄŸlayan, 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-Cécile, Bennett, Eric J, Yeo, Gene W, Baas, Frank, Lykke-Andersen, Jens, Gleeson, Joseph G

المساهمون: UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Service de neurologie pédiatrique

المصدر: Nature Genetics, Vol. 49, no. 3, p. 457-464 (2017)

العلاقة: boreal:185588; http://hdl.handle.net/2078.1/185588Test; info:pmid/28092684; urn:ISSN:1061-4036; urn:EISSN:1546-1718

الإتاحة: https://doi.org/10.1038/ng.3762Test
http://hdl.handle.net/2078.1/185588Test

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: Schaffer, Ashleigh E, Eggens, Veerle R C, 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: Schaffer , A E , Eggens , V R C , Caglayan , A O , Reuter , M S , Scott , E , Coufal , N G , Silhavy , J L , Xue , Y , Kayserili , H , Yasuno , K , Rosti , R O , Abdellateef , M , Caglar , C , Kasher , P R , Cazemier , J L , Weterman , M A , Cantagrel , V , Cai , N , Zweier , C , Altunoglu , U , Satkin , N B , Aktar , F ....

الإتاحة: https://doi.org/10.1016/j.cell.2014.03.049Test
https://research.manchester.ac.uk/en/publications/8e29c3b4-67f0-4c55-8bea-2812b288a924Test

المؤلفون: Satkin, N. Bilge, Gleeson, Joseph G., Baas, Frank, Gunel, Murat, Reis, Andre, Gabriel, Stacey, Trotta, Christopher R., Fu, Xiang-Dong, Bilguvar, Kaya, Caksen, Huseyin, Yalcinkaya, Cengiz, Tuysuz, Beyhan, Aktar, Fesih, Altunoglu, Umut, Zweier, Christiane, Cai, Na, Cantagrel, Vincent, Weterman, Marian A., Cazemier, J. Leonie, Kasher, Paul R., Caglar, Caner, Abdellateef, Mostafa, Rosti, Rasim Ozgur, Yasuno, Katsuhito, Kayserili, Hulya, Xue, Yuanchao, Silhavy, Jennifer L., Coufal, Nicole G., Scott, Eric, Reuter, Miriam S., ÇAĞLAYAN, AHMET OKAY, Eggens, Veerle R. C., Schaffer, Ashleigh E.

العلاقة: 5bc8361d-9b75-4fa5-855c-0790f959dd79; https://avesis.deu.edu.tr/publication/details/5bc8361d-9b75-4fa5-855c-0790f959dd79/oaiTest

الإتاحة: https://doi.org/10.1016/j.cell.2014.03.049Test
https://avesis.deu.edu.tr/publication/details/5bc8361d-9b75-4fa5-855c-0790f959dd79/oaiTest

المؤلفون: Namavar, Yasmin, Barth, Peter G., Kasher, Paul R., van Ruissen, Fred, Brockmann, Knut, Bernert, Günther, Writzl, Karin, Ventura, Karen, Cheng, Edith Y., Ferriero, Donna M., Basel-Vanagaite, Lina, Eggens, Veerle R. C., Krägeloh-Mann, Ingeborg, De Meirleir, Linda, King, Mary, Graham, John M., von Moers, Arpad, Knoers, Nine, Sztriha, Laszlo, Korinthenberg, Rudolf, Consortium, PCH, Dobyns, William B., Baas, Frank, Poll-The, Bwee Tien

مصطلحات موضوعية: Original Articles

وصف الملف: text/html

العلاقة: http://brain.oxfordjournals.org/cgi/content/short/134/1/143Test; http://dx.doi.org/10.1093/brain/awq287Test

الإتاحة: https://doi.org/10.1093/brain/awq287Test
http://brain.oxfordjournals.org/cgi/content/short/134/1/143Test

المؤلفون: Namavar, Yasmin, Barth, Peter G., Kasher, Paul R., van Ruissen, Fred, Brockmann, Knut, Bernert, Günther, Writzl, Karin, Ventura, Karen, Cheng, Edith Y., Ferriero, Donna M., Basel-Vanagaite, Lina, Eggens, Veerle R. C., Krägeloh-Mann, Ingeborg, De Meirleir, Linda, King, Mary, Graham, John M., von Moers, Arpad, Knoers, Nine, Sztriha, Laszlo, Korinthenberg, Rudolf, Consortium, PCH, Dobyns, William B., Baas, Frank, Poll-The, Bwee Tien

مصطلحات موضوعية: Original Article

وصف الملف: text/html

العلاقة: http://brain.oxfordjournals.org/cgi/content/short/awq287v1Test; http://dx.doi.org/10.1093/brain/awq287Test

الإتاحة: https://doi.org/10.1093/brain/awq287Test
http://brain.oxfordjournals.org/cgi/content/short/awq287v1Test

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: Eggens, Veerle R. C.

المساهمون: Baas, Frank, Poll-The, Bwee T., Genome Analysis

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=narcis______::61376c811400982c2dfe140fc5af3141Test
https://pure.amc.nl/en/publications/on-the-origin-of-pontocerebellar-hypoplasia-finding-genes-for-a-rare-diseaseTest(34207822-c36d-4911-8f0c-0c95531e34f4).html

المؤلفون: ZWEIER, Christiane, SILHAVY, Jennifer L., XUE, Yuanchao, Kayserili, Hulya, Yasuno, Katsuhito, ABDELLATEEF, Mostafa, Caglar, Caner, KASHER, Paul R., CAZEMIER, J. Leonie, WETERMAN, Marian A., CANTAGREL, Vincent, CAI, NA, AKTAR, Fesih, Caksen, Huseyin, Bilguvar, Kaya, FU, Xiang-Dong, TROTTA, Christopher R., Gabriel, Stacey, REIS, Andre, Gunel, Murat, BAAS, Frank, GLEESON, Joseph G., SCHAFFER, Ashleigh E., EGGENS, Veerle R. C., Caglayan, Ahmet Okay, REUTER, Miriam S., SCOTT, Eric, COUFAL, Nicole G., Satkin, N. Bilge, Altunoglu, Umut, Tuysuz, Beyhan, Yalcinkaya, Cengiz, ROSTI, Rasim Özgür

مصطلحات موضوعية: Tıp, Sağlık Bilimleri, Temel Tıp Bilimleri, Histoloji-Embriyoloji, Moleküler Biyoloji ve Genetik, Yaşam Bilimleri, Sitogenetik, Temel Bilimler, Yaşam Bilimleri (LIFE), HÜCRE BİYOLOJİSİ, BİYOKİMYA VE MOLEKÜLER BİYOLOJİ

العلاقة: CELL; SCHAFFER A. E. , EGGENS V. R. C. , Caglayan A. O. , REUTER M. S. , SCOTT E., COUFAL N. G. , SILHAVY J. L. , XUE Y., Kayserili H., Yasuno K., et al., "CLP1 Founder Mutation Links tRNA Splicing and Maturation to Cerebellar Development and Neurodegeneration", CELL, cilt.157, sa.3, ss.651-663, 2014; av_5bc8361d-9b75-4fa5-855c-0790f959dd79; vv_1032021; http://hdl.handle.net/20.500.12627/64388Test; https://doi.org/10.1016/j.cell.2014.03.049Test; 157; 651; 663

الإتاحة: https://doi.org/20.500.12627/64388Test
https://doi.org/10.1016/j.cell.2014.03.049Test
https://hdl.handle.net/20.500.12627/64388Test

المؤلفون: Eggens, Veerle R. C., Barth, Peter G., Baas, Frank, D'Arrigo, Stefano, Riva, Daria, Valente, Enza Maria

المساهمون: Genome Analysis, Paediatric Neurology, Amsterdam Neuroscience

المصدر: Paediatric neurological disorders with cerebellar involvement : Diagnosis and management, 75-82
STARTPAGE=75;ENDPAGE=82;TITLE=Paediatric neurological disorders with cerebellar involvement : Diagnosis and management

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=narcis______::d326d832078b3a76295c57e8f7cb3f86Test
https://pure.amc.nl/en/publications/update-on-pontocerebellar-hypoplasia--novel-subtypes-genes-and-insightsTest(32323a1a-dbe9-4c57-acef-0b8bcf960cab).html