نتائج البحث - "/dk/atira/pure/keywords/researchprograms/AFL001000/EMCMGC029601"

1

دورية أكاديمية

International consensus recommendations on the diagnostic work-up for malformations of cortical development

المؤلفون: Oegema, R, Barakat, Stefan, Wilke, Martina, Stouffs, K, Amrom, D, Aronica, E, Bahi-Buisson, N, Conti, V, Fry, AE, Geis, T, Andres, DG, Parrini, E, Pogledic, I, Said, E, Soler, D, Valor, LM, Zaki, MS, Mirzaa, G, Dobyns, WB, Reiner, O, Guerrini, R, Pilz, DT, Hehr, U, Leventer, RJ, Jansen, AC, Verheijen - Mancini, Grazia, Di Donato, N

المصدر: Oegema , R , Barakat , S , Wilke , M , Stouffs , K , Amrom , D , Aronica , E , Bahi-Buisson , N , Conti , V , Fry , AE , Geis , T , Andres , DG , Parrini , E , Pogledic , I , Said , E , Soler , D , Valor , LM , Zaki , MS , Mirzaa , G , Dobyns , WB , Reiner , O , Guerrini , R , Pilz , DT , Hehr , U , Leventer , RJ , Jansen , AC ....

مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMGC029601, name=EMC MGC-02-96-01, /dk/atira/pure/keywords/researchprograms/AFL001000/EMCOR01, name=EMC OR-01

وصف الملف: application/pdf

العلاقة: https://pure.eur.nl/en/publications/c1fb41ee-4d6a-4ff5-9d07-ec491c7f29f9Test

الإتاحة: https://doi.org/10.1038/s41582-020-0395-6Test
https://pure.eur.nl/en/publications/c1fb41ee-4d6a-4ff5-9d07-ec491c7f29f9Test
https://pure.eur.nl/ws/files/48407661/Repub_130198_O-A.pdfTest
http://hdl.handle.net/1765/130198Test

View record in BASE

2

دورية أكاديمية

The Why of YY1: Mechanisms of Transcriptional Regulation by Yin Yang 1

المؤلفون: Verheul, Thijs, van Hijfte, Levi, Perenthaler, Elena, Barakat, Stefan

المصدر: Verheul , T , van Hijfte , L , Perenthaler , E & Barakat , S 2020 , ' The Why of YY1: Mechanisms of Transcriptional Regulation by Yin Yang 1 ' , Frontiers in Cell and Developmental Biology , vol. 8 , 592164 . https://doi.org/10.3389/fcell.2020.592164Test

مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMGC021302, name=EMC MGC-02-13-02, /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMGC029601, name=EMC MGC-02-96-01, /dk/atira/pure/keywords/researchprograms/AFL001000/EMCOR01, name=EMC OR-01

وصف الملف: application/pdf

العلاقة: https://pure.eur.nl/en/publications/0d71d338-8e69-4aad-a3c7-28345565ba18Test

الإتاحة: https://doi.org/10.3389/fcell.2020.592164Test
https://pure.eur.nl/en/publications/0d71d338-8e69-4aad-a3c7-28345565ba18Test
https://pure.eur.nl/ws/files/48382334/Repub_131430_O-A.pdfTest
http://hdl.handle.net/1765/131430Test

View record in BASE

3

دورية أكاديمية

Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy

المؤلفون: AlMuhaizea, M, AlMass, R, AlHargan, A, AlBader, A, Medico Salsench, Eva, Howaidi, J, Ihinger, J, Karachunski, P, Begtrup, A, Segura Castell, M, Bauer, P, Bertoli-Avella, A, Kaya, IH, AlSufayan, J, AlQuait, L, Chedrawi, A, Arold, ST, Colak, D, Barakat, Stefan, Kaya, N

المصدر: AlMuhaizea , M , AlMass , R , AlHargan , A , AlBader , A , Medico Salsench , E , Howaidi , J , Ihinger , J , Karachunski , P , Begtrup , A , Segura Castell , M , Bauer , P , Bertoli-Avella , A , Kaya , IH , AlSufayan , J , AlQuait , L , Chedrawi , A , Arold , ST , Colak , D , Barakat , S & Kaya , N 2020 , ' Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, ....

مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMGC029601, name=EMC MGC-02-96-01, /dk/atira/pure/keywords/researchprograms/AFL001000/EMCOR01, name=EMC OR-01

وصف الملف: application/pdf

العلاقة: https://pure.eur.nl/en/publications/a5329b99-fa94-4bd6-8473-b9970cfecb9aTest

الإتاحة: https://doi.org/10.1007/s00401-020-02128-8Test
https://pure.eur.nl/en/publications/a5329b99-fa94-4bd6-8473-b9970cfecb9aTest
https://pure.eur.nl/ws/files/48338721/Repub-124560.pdfTest

View record in BASE

4

دورية أكاديمية

Beyond the Exome: The Non-coding Genome and Enhancers in Neurodevelopmental Disorders and Malformations of Cortical Development

المؤلفون: Perenthaler, Elena, Yousefi, Soheil, Niggl, Eva, Barakat, Stefan

المصدر: Perenthaler , E , Yousefi , S , Niggl , E & Barakat , S 2019 , ' Beyond the Exome: The Non-coding Genome and Enhancers in Neurodevelopmental Disorders and Malformations of Cortical Development ' , Frontiers in Cellular Neuroscience , vol. 13 , 352 . https://doi.org/10.3389/fncel.2019.00352Test

مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMGC029601, name=EMC MGC-02-96-01

وصف الملف: application/pdf

العلاقة: https://pure.eur.nl/en/publications/e55d7eab-768e-4180-9595-7f606b1e9019Test

الإتاحة: https://doi.org/10.3389/fncel.2019.00352Test
https://pure.eur.nl/en/publications/e55d7eab-768e-4180-9595-7f606b1e9019Test
https://pure.eur.nl/ws/files/48216479/Repub_118878_O-A.pdfTest
http://hdl.handle.net/1765/118878Test

View record in BASE

5

دورية أكاديمية

Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics

المصدر: Vandervore , L , Schot , R , Kasteleijn , E , Oegema , R , Stouffs , K , Gheldof , A , Grochowska , M , Sterre , M , Unen , L , Wilke , M , Elfferich , P , van der Spek , P , Heijsman , D , Grandone , A , Demmers , J , Dekkers , D , Slotman , J , Kremers , G-J , Schaaf , G , Masius , R , van Essen , AJ , Rump , P , van Haeringen , A , Peeters , E ....

مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMGC022101, name=EMC MGC-02-21-01, /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMGC029601, name=EMC MGC-02-96-01, /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMM032401, name=EMC MM-03-24-01

وصف الملف: application/pdf

العلاقة: https://pure.eur.nl/en/publications/b3b4a3f8-1082-4ccc-b7ba-7d8835c0af71Test

الإتاحة: https://doi.org/10.1093/brain/awz045Test
https://pure.eur.nl/en/publications/b3b4a3f8-1082-4ccc-b7ba-7d8835c0af71Test
https://pure.eur.nl/ws/files/48208665/REPUB_118248-OA.pdfTest
http://hdl.handle.net/1765/118248Test

View record in BASE

6

دورية أكاديمية

The evolution of Great Apes has shaped the functional enhancers' landscape in human embryonic stem cells

المؤلفون: Glinsky, G, Barakat, Stefan

المصدر: Glinsky , G & Barakat , S 2019 , ' The evolution of Great Apes has shaped the functional enhancers' landscape in human embryonic stem cells ' , Stem Cell Research , vol. 37 , Unsp 101456 . https://doi.org/10.1016/j.scr.2019.101456Test

مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMGC029601, name=EMC MGC-02-96-01

وصف الملف: application/pdf

العلاقة: https://pure.eur.nl/en/publications/b4768d92-00e6-43c8-a68c-f54bcfbd4882Test

الإتاحة: https://doi.org/10.1016/j.scr.2019.101456Test
https://pure.eur.nl/en/publications/b4768d92-00e6-43c8-a68c-f54bcfbd4882Test
https://pure.eur.nl/ws/files/48206863/Repub-117793-OA.pdfTest
http://hdl.handle.net/1765/117793Test

View record in BASE

7

دورية أكاديمية

Building Bridges Between the Clinic and the Laboratory: A Meeting Review - Brain Malformations: A Roadmap for Future Research

المؤلفون: Sapir, T, Barakat, Stefan, Paredes, MF, Lerman-Sagie, T, Aronica, E, Klonowski, W, Nguyen, L, Ben Zeev, B, Bahi-Buisson, N, Leventer, R, Rachmian, N, Reiner, O

المصدر: Sapir , T , Barakat , S , Paredes , MF , Lerman-Sagie , T , Aronica , E , Klonowski , W , Nguyen , L , Ben Zeev , B , Bahi-Buisson , N , Leventer , R , Rachmian , N & Reiner , O 2019 , ' Building Bridges Between the Clinic and the Laboratory: A Meeting Review - Brain Malformations: A Roadmap for Future Research ' , Frontiers in Cellular Neuroscience , vol. 13 , 434 . https://doi.org/10.3389/fncel.2019.00434Test

مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMGC029601, name=EMC MGC-02-96-01

وصف الملف: application/pdf

العلاقة: https://pure.eur.nl/en/publications/453e3171-2f9b-4b1d-8f36-ea1ba6adda32Test

الإتاحة: https://doi.org/10.3389/fncel.2019.00434Test
https://pure.eur.nl/en/publications/453e3171-2f9b-4b1d-8f36-ea1ba6adda32Test
https://pure.eur.nl/ws/files/48243495/Repub_120405_O-A.pdfTest
http://hdl.handle.net/1765/120405Test

View record in BASE

8

كتاب

Facing the Future of Craniofacial Genetics

المؤلفون: Goos, Jacqueline

المصدر: Goos , J 2017 , ' Facing the Future of Craniofacial Genetics ' , Erasmus University Rotterdam . < http://hdl.handle.net/1765/103488Test >

مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMGC020201, name=EMC MGC-02-02-01, /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMGC029601, name=EMC MGC-02-96-01, /dk/atira/pure/keywords/researchprograms/AFL001000/EMCNIHES015001A, name=EMC NIHES-01-50-01-A

وصف الملف: application/pdf

العلاقة: https://pure.eur.nl/en/publications/11079915-4a52-4f9a-9f15-3b46b3d86c0dTest; urn:ISBN:9789462998056

الإتاحة: https://pure.eur.nl/en/publications/11079915-4a52-4f9a-9f15-3b46b3d86c0dTest
https://pure.eur.nl/ws/files/46438326/14845-goos-layout-v4-DEF.pdfTest
https://pure.eur.nl/ws/files/46438328/14845-goos-propositions-v2-DEF.pdfTest
http://hdl.handle.net/1765/103488Test

View record in BASE

9

كتاب

Fragile X Syndrome : the quest for targeted treatment

المؤلفون: Zeidler, Shimriet

المصدر: Zeidler , S 2017 , ' Fragile X Syndrome : the quest for targeted treatment ' , Erasmus University Rotterdam . < http://hdl.handle.net/1765/101803Test >

مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMGC029601, name=EMC MGC-02-96-01

وصف الملف: application/pdf

العلاقة: https://pure.eur.nl/en/publications/137b1948-92a7-432f-89d5-2af0316a20bbTest; urn:ISBN:9789463322256

الإتاحة: https://pure.eur.nl/en/publications/137b1948-92a7-432f-89d5-2af0316a20bbTest
https://pure.eur.nl/ws/files/46437174/Zeidler-Thesis-2017.pdfTest
https://pure.eur.nl/ws/files/46437178/Zeidler_Stellingen.pdfTest
http://hdl.handle.net/1765/101803Test

View record in BASE

10

كتاب

Linking Cellular and In Vitro Microtubule Behavior: Reconstitution Assays to the Rescue

المؤلفون: Signorile, Luca

المصدر: Signorile , L 2017 , ' Linking Cellular and In Vitro Microtubule Behavior: Reconstitution Assays to the Rescue ' , Erasmus University Rotterdam . < http://hdl.handle.net/1765/101425Test >

مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMGC029601, name=EMC MGC-02-96-01

وصف الملف: image/png; application/pdf

العلاقة: https://pure.eur.nl/en/publications/ef98f42b-b7d8-4c73-85d8-82a0a93de85fTest; urn:ISBN:9789462997011

الإتاحة: https://pure.eur.nl/en/publications/ef98f42b-b7d8-4c73-85d8-82a0a93de85fTest
https://pure.eur.nl/ws/files/46436502/Cover-image.PNGTest
https://pure.eur.nl/ws/files/46436504/PhD_thesis_Luca_Signorile.pdfTest
https://pure.eur.nl/ws/files/46436508/stellingen_Luca_Signorile.pdfTest
http://hdl.handle.net/1765/101425Test

View record in BASE

تنقيح النتائج