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1دورية أكاديمية
المؤلفون: Marcogliese, Paul C, Shashi, Vandana, Spillmann, Rebecca C, Stong, Nicholas, Rosenfeld, Jill A, Koenig, Mary Kay, Martínez-Agosto, Julián A, Herzog, Matthew, Chen, Agnes H, Dickson, Patricia I, Lin, Henry J, Vera, Moin U, Salamon, Noriko, Graham, John M, Ortiz, Damara, Infante, Elena, Steyaert, Wouter, Dermaut, Bart, Poppe, Bruce, Chung, Hyung-Lok, Zuo, Zhongyuan, Lee, Pei-Tseng, Kanca, Oguz, Xia, Fan, Yang, Yaping, Smith, Edward C, Jasien, Joan, Kansagra, Sujay, Spiridigliozzi, Gail, El-Dairi, Mays, Lark, Robert, Riley, Kacie, Koeberl, Dwight D, Golden-Grant, Katie, Diseases, Program for Undiagnosed, Callens, Steven, Coucke, Paul, Hemelsoet, Dimitri, Terryn, Wim, Van Coster, Rudy, Network, Undiagnosed Diseases, Adams, David R, Alejandro, Mercedes E, Allard, Patrick, Azamian, Mahshid S, Bacino, Carlos A, Balasubramanyam, Ashok, Barseghyan, Hayk, Batzli, Gabriel F, Beggs, Alan H, Behnam, Babak, Bican, Anna, Bick, David P, Birch, Camille L, Bonner, Devon, Boone, Braden E, Bostwick, Bret L, Briere, Lauren C, Brown, Donna M, Brush, Matthew, Burke, Elizabeth A, Burrage, Lindsay C, Chen, Shan, Clark, Gary D, Coakley, Terra R, Cogan, Joy D, Cooper, Cynthia M, Cope, Heidi, Craigen, William J, D’Souza, Precilla, Davids, Mariska, Dayal, Jyoti G, Dell’Angelica, Esteban C, Dhar, Shweta U, Dillon, Ani, Dipple, Katrina M, Donnell-Fink, Laurel A, Dorrani, Naghmeh, Dorset, Daniel C, Douine, Emilie D, Draper, David D, Eckstein, David J, Emrick, Lisa T, Eng, Christine M, Eskin, Ascia, Esteves, Cecilia, Estwick, Tyra, Ferreira, Carlos, Fogel, Brent L, Friedman, Noah D, Gahl, William A, Glanton, Emily, Godfrey, Rena A, Goldstein, David B, Gould, Sarah E, Gourdine, Jean-Philippe F, Groden, Catherine A
المصدر: American Journal of Human Genetics. 103(2)
مصطلحات موضوعية: Neurodegenerative, Brain Disorders, Neurosciences, Human Genome, Genetics, Biotechnology, 2.1 Biological and endogenous factors, Aetiology, Neurological, Program for Undiagnosed Diseases, Undiagnosed Diseases Network, C3HC4 RING finger, CG11138, Drosophila, EAP1, ataxia, developmental regression, hypotonia, neurodegeneration, pits, seizures, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/2sb1c8bgTest
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2دورية أكاديمية
المؤلفون: Dewaele, Shanna, Delhaye, Louis, De Paepe, Boel, Bogaert, Bram, Martinez, Ramiro, Anckaert, Jasper, Yigit, Nurten, Nuytens, Justine, Van Coster, Rudy, Eyckerman, Sven, Raemdonck, Koen, Mestdagh, Pieter
المصدر: NUCLEIC ACID THERAPEUTICS ; ISSN: 2159-3337 ; ISSN: 2159-3345
وصف الملف: application/pdf
العلاقة: https://biblio.ugent.be/publication/01HN35VN3XBBADAYTHND9EC9YJTest; http://hdl.handle.net/1854/LU-01HN35VN3XBBADAYTHND9EC9YJTest; http://doi.org/10.1089/nat.2023.0008Test; https://biblio.ugent.be/publication/01HN35VN3XBBADAYTHND9EC9YJ/file/01HN35XGADVQYQP2PFT3B0MNDQTest
الإتاحة: https://doi.org/10.1089/nat.2023.0008Test
https://biblio.ugent.be/publication/01HN35VN3XBBADAYTHND9EC9YJTest
http://hdl.handle.net/1854/LU-01HN35VN3XBBADAYTHND9EC9YJTest
https://biblio.ugent.be/publication/01HN35VN3XBBADAYTHND9EC9YJ/file/01HN35XGADVQYQP2PFT3B0MNDQTest -
3دورية أكاديمية
المؤلفون: Mercuri, E., Seferian, A. M., Servais, L., Deconinck, N., Stevenson, H., Ni, X., Zhang, W., East, L., Yonren, S., Muntoni, F., Van Coster, Rudy, Vanlander, Arnaud, Study Group, 4658-102
المصدر: NEUROMUSCULAR DISORDERS ; ISSN: 0960-8966 ; ISSN: 1873-2364
مصطلحات موضوعية: Medicine and Health Sciences, Duchenne muscular dystrophy, Eteplirsen, Safety, Clinical trial, DMD, MULTICENTER, AMBULATION, MANAGEMENT, DIAGNOSIS, ATALUREN, DISEASE
وصف الملف: application/pdf
العلاقة: https://biblio.ugent.be/publication/01HWD153NEGBESFJ4H8Z9FBX9CTest; http://hdl.handle.net/1854/LU-01HWD153NEGBESFJ4H8Z9FBX9CTest; http://doi.org/10.1016/j.nmd.2023.03.008Test; https://biblio.ugent.be/publication/01HWD153NEGBESFJ4H8Z9FBX9C/file/01HWD1G08JZRW0BGK1DCHBV4B5Test
الإتاحة: https://doi.org/10.1016/j.nmd.2023.03.008Test
https://biblio.ugent.be/publication/01HWD153NEGBESFJ4H8Z9FBX9CTest
http://hdl.handle.net/1854/LU-01HWD153NEGBESFJ4H8Z9FBX9CTest
https://biblio.ugent.be/publication/01HWD153NEGBESFJ4H8Z9FBX9C/file/01HWD1G08JZRW0BGK1DCHBV4B5Test -
4دورية أكاديمية
المؤلفون: Abdou, D. M., Selim, L. A., Van Coster, Rudy, Smet, Joél, Nakhla, G. A., Mehaney, D. A.
المصدر: SOUTH AFRICAN JOURNAL OF CHILD HEALTH ; ISSN: 1994-3032 ; ISSN: 1999-7671
مصطلحات موضوعية: Medicine and Health Sciences, MUTATIONS, SPECTRUM, MEDICINE, CRITERIA, NUCLEAR, COHORT
وصف الملف: application/pdf
العلاقة: https://biblio.ugent.be/publication/01HPPE6T439AX42SJH8S86HR3ETest; http://hdl.handle.net/1854/LU-01HPPE6T439AX42SJH8S86HR3ETest; http://doi.org/10.7196/SAJCH.2023.v17i1.1779Test; https://biblio.ugent.be/publication/01HPPE6T439AX42SJH8S86HR3E/file/01HRCTRQS2GEMGZC5TZEN5ZZP6Test
الإتاحة: https://doi.org/10.7196/SAJCH.2023.v17i1.1779Test
https://biblio.ugent.be/publication/01HPPE6T439AX42SJH8S86HR3ETest
http://hdl.handle.net/1854/LU-01HPPE6T439AX42SJH8S86HR3ETest
https://biblio.ugent.be/publication/01HPPE6T439AX42SJH8S86HR3E/file/01HRCTRQS2GEMGZC5TZEN5ZZP6Test -
5دورية أكاديمية
المؤلفون: Boterberg, Sofie (ORCID
0000-0002-5569-8835 ), Van Coster, Rudy, Roeyers, Herbertالمصدر: Journal of Autism and Developmental Disorders. Nov 2019 49(11):4603-4625.
تمت مراجعته من قبل الزملاء: Y
Page Count: 23
الواصفات: Autism, Pervasive Developmental Disorders, Children, Social Development, Communication Skills, Predictor Variables, Delayed Speech, Repetition, Behavior Patterns, Developmental Delays, Parent Attitudes
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6دورية أكاديمية
المؤلفون: Lhuissier, Charlène, Wagner, Bart E., Vincent, Amy, Garraux, Gaëtan, Hougrand, Olivier, Van Coster, Rudy, Benoit, Valerie, Karadurmus, Deniz, Lenaers, Guy, Gueguen, Naïg, Chevrollier, Arnaud, Maystadt, Isabelle
المصدر: Lhuissier , C , Wagner , B E , Vincent , A , Garraux , G , Hougrand , O , Van Coster , R , Benoit , V , Karadurmus , D , Lenaers , G , Gueguen , N , Chevrollier , A & Maystadt , I 2022 , ' Case report : Thirty-year progression of an EMPF1 encephalopathy due to defective mitochondrial and peroxisomal fission caused by a novel de novo heterozygous DNM1L variant ' , Frontiers in neurology , vol. 13 , 937885 . https://doi.org/10.3389/fneur.2022.937885Test
مصطلحات موضوعية: DNM1L, DRP1, EMPF1, encephalopathy, mitochondrial fission
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.3389/fneur.2022.937885Test
https://researchportal.unamur.be/en/publications/2169669b-7254-4363-ba0e-dc84ac51738bTest
https://pure.unamur.be/ws/files/74686032/fneur_13_937885.pdfTest
http://www.scopus.com/inward/record.url?scp=85140064794&partnerID=8YFLogxKTest -
7دورية أكاديمية
المؤلفون: Schuermans, Nika, Hemelsoet, Dimitri, Terryn, Wim, Steyaert, Sanne, Van Coster, Rudy, Coucke, Paul, Steyaert, Wouter, Callewaert, Bert, Bogaert, Elke, Verloo, Patrick, Vanlander, Arnaud, Debackere, Elke, Ghijsels, Jody, LeBlanc, Pontus, Verdin, Hannah, Naesens, Leslie, Haerynck, Filomeen, Callens, Steven, Dermaut, Bart, Poppe, Bruce, De Bleecker, Jan, Santens, Patrick, Boon, Paul, Laureys, Guy, Kerre, Tessa, for UD-PrOZA, missing
المصدر: ORPHANET JOURNAL OF RARE DISEASES ; ISSN: 1750-1172
مصطلحات موضوعية: Medicine and Health Sciences, Pharmacology (medical), Genetics (clinical), General Medicine, Rare diseases, UD-PrOZA, Diagnostic odyssey, Whole exome sequencing, Diagnostic yield, SGO1, SNORD118, IRF2BPL, PLAAT3, ACMSD
وصف الملف: application/pdf
العلاقة: https://biblio.ugent.be/publication/8754351Test; http://hdl.handle.net/1854/LU-8754351Test; http://doi.org/10.1186/s13023-022-02365-yTest; https://biblio.ugent.be/publication/8754351/file/8756908Test
الإتاحة: https://doi.org/10.1186/s13023-022-02365-yTest
https://biblio.ugent.be/publication/8754351Test
http://hdl.handle.net/1854/LU-8754351Test
https://biblio.ugent.be/publication/8754351/file/8756908Test -
8دورية أكاديمية
المساهمون: Tu, Wen-Jun
المصدر: PLOS ONE ; ISSN: 1932-6203
مصطلحات موضوعية: Medicine and Health Sciences, Multidisciplinary
وصف الملف: application/pdf
العلاقة: https://biblio.ugent.be/publication/8772280Test; http://hdl.handle.net/1854/LU-8772280Test; http://dx.doi.org/10.1371/journal.pone.0274310Test; https://biblio.ugent.be/publication/8772280/file/8772281Test
الإتاحة: https://doi.org/10.1371/journal.pone.0274310Test
https://biblio.ugent.be/publication/8772280Test
http://hdl.handle.net/1854/LU-8772280Test
https://biblio.ugent.be/publication/8772280/file/8772281Test -
9دورية أكاديمية
المؤلفون: Yépez, Vincente A, Gusic, Mirjana, Kopajtich, Robert, Mertes, Christian, Smith, Nicholas H, Alston, Charlotte L, Ban, Rui, Beblo, Skadi, Berutti, Riccardo, Blessing, Holger, Ciara, Elzbieta, Distelmaier, Felix, Freisinger, Peter, Häberle, Johannes, Hayflick, Susan J, Hempel, Marja, Itkis, Yulia S, Kishita, Yoshihito, Klopstock, Thomas, Krylova, Tatiana D, Lamperti, Costanza, Lenz, Dominic, Makowski, Christine, Mosegaard, Signe, Müller, Michalea F, Muñoz-Pujol, Gerard, Nadel, Agnieszka, Ohtake, Akira, Okazaki, Yasushi, Procopio, Elena, Schwarzmayr, Thomas, Smet, Joél, Staufner, Christian, Stenton, Sarah L, Strom, Tim M, Terrile, Caterina, Tort, Frederic, Van Coster, Rudy, Vanlander, Arnaud, Wagner, Matias, Xu, Manting, Fang, Fang, Ghezzi, Daniele, Mayr, Johannes A, Piekutowska-Abramczuk, Dorota, Ribes, Antonia, Rötig, Agnès, Taylor, Robert W, Wortmann, Saskia B, Murayama, Kei, Meitinger, Thomas, Gagneur, Julien, Prokisch, Holger
المصدر: GENOME MEDICINE ; ISSN: 1756-994X
مصطلحات موضوعية: Medicine and Health Sciences, RNA-seq, Genetic diagnostics, Mendelian diseases, MUTATIONS CAUSE, MITOCHONDRIAL DISEASE, GENE-EXPRESSION, VARIANTS, DEFECT, COMPLEX, DEFICIENCY, GENOMICS, ONSET, CARDIOMYOPATHY
وصف الملف: application/pdf
العلاقة: https://biblio.ugent.be/publication/8755974Test; http://hdl.handle.net/1854/LU-8755974Test; http://dx.doi.org/10.1186/s13073-022-01019-9Test; https://biblio.ugent.be/publication/8755974/file/8755980Test
الإتاحة: https://doi.org/10.1186/s13073-022-01019-9Test
https://biblio.ugent.be/publication/8755974Test
http://hdl.handle.net/1854/LU-8755974Test
https://biblio.ugent.be/publication/8755974/file/8755980Test -
10دورية أكاديمية
المؤلفون: Dewaele, Shanna, Delhaye, Louis, De Paepe, Boel, de Bony de Lavergne, Eric, De Wilde, Jilke, Vanderheyden, Katrien, Anckaert, Jasper, Yigit, Nurten, Nuytens, Justine, Vanden Eynde, Eveline, Smet, Joél, Verschoore, Maxime, Nemati, Fariba, Decaudin, Didier, Rodrigues, Manuel, Zhao, Peihua, Jochemsen, Aart, Leucci, Eleonora, Vandesompele, Jo, Van Dorpe, Jo, Marine, Jean-Christophe, Van Coster, Rudy, Eyckerman, Sven, Mestdagh, Pieter
المصدر: ONCOGENE ; ISSN: 0950-9232 ; ISSN: 1476-5594
مصطلحات موضوعية: Medicine and Health Sciences, Cancer Research, Genetics, Molecular Biology, ESTABLISHMENT, GLYCYLCYCLINE, TIGECYCLINE, KI-67
وصف الملف: application/pdf
العلاقة: https://biblio.ugent.be/publication/8720221Test; http://hdl.handle.net/1854/LU-8720221Test; http://dx.doi.org/10.1038/s41388-021-02006-xTest; https://biblio.ugent.be/publication/8720221/file/8735568Test
الإتاحة: https://doi.org/10.1038/s41388-021-02006-xTest
https://biblio.ugent.be/publication/8720221Test
http://hdl.handle.net/1854/LU-8720221Test
https://biblio.ugent.be/publication/8720221/file/8735568Test
