المؤلفون: Vanoevelen, Jo M., Bierau, Jorgen, Grashorn, Janine C., Lambrichs, Ellen, Kamsteeg, Erik-Jan, Bok, Levinus A., Wevers, Ron A., van der Knaap, Marjo S., Bugiani, Marianna, Frisk, Junmei Hu, Colnaghi, Rita, O'Driscoll, Mark, Hellebrekers, Debby M. E., Rodenburg, Richard, Ferreira, Carlos R., Brunner, Han G., van den Wijngaard, Arthur, Abdel-Salam, Ghada M. H., Wang, Liya, Stumpel, Constance T. R. M.

مصطلحات موضوعية: Medical Genetics, Neurology

وصف الملف: application/pdf

العلاقة: https://pub.epsilon.slu.se/27077/1/vanoevelen_j_m_et_al_220214.pdfTest; Vanoevelen, Jo M. and Bierau, Jorgen and Grashorn, Janine C. and Lambrichs, Ellen and Kamsteeg, Erik-Jan and Bok, Levinus A. and Wevers, Ron A. and van der Knaap, Marjo S. and Bugiani, Marianna and Frisk, Junmei Hu and Colnaghi, Rita and O'Driscoll, Mark and Hellebrekers, Debby M. E. and Rodenburg, Richard and Ferreira, Carlos R. and Brunner, Han G. and van den Wijngaard, Arthur and Abdel-Salam, Ghada M. H. and Wang, Liya and Stumpel, Constance T. R. M. (2022). DTYMK is essential for genome integrity and neuronal survival. Acta Neuropathologica. 143 :2 , 245-262 [Research article]

الإتاحة: https://pub.epsilon.slu.se/27077Test/
https://pub.epsilon.slu.se/27077/1/vanoevelen_j_m_et_al_220214.pdfTest

المؤلفون: van Karnebeek, Clara D M, Sayson, Bryan, Lee, Jessica J Y, Tseng, Laura A, Blau, Nenad, Horvath, Gabriella A, Ferreira, Carlos R

المصدر: van Karnebeek, Clara D M; Sayson, Bryan; Lee, Jessica J Y; Tseng, Laura A; Blau, Nenad; Horvath, Gabriella A; Ferreira, Carlos R (2018). Metabolic Evaluation of Epilepsy: A Diagnostic Algorithm With Focus on Treatable Conditions. Frontiers in Neurology, 9:1016.

مصطلحات موضوعية: Medical Clinic, 610 Medicine & health, Neurology, Clinical Neurology

وصف الملف: application/pdf

العلاقة: https://www.zora.uzh.ch/id/eprint/161470/1/ZORA161470.pdfTest; info:pmid/30559706; urn:issn:1664-2295

الإتاحة: https://doi.org/10.5167/uzh-16147010.3389/fneur.2018.01016Test
https://www.zora.uzh.ch/id/eprint/161470Test/
https://www.zora.uzh.ch/id/eprint/161470/1/ZORA161470.pdfTest

المؤلفون: van Karnebeek, Clara D. M., Sayson, Bryan, Lee, Jessica J. Y., Tseng, Laura A., Blau, Nenad, Horvath, Gabriella A., Ferreira, Carlos R.

المصدر: Frontiers in Neurology ; volume 9 ; ISSN 1664-2295

مصطلحات موضوعية: Neurology (clinical), Neurology

الإتاحة: https://doi.org/10.3389/fneur.2018.01016Test

المؤلفون: Bayat, Allan, Knaus, Alexej, Pendziwiat, Manuela, Afenjar, Alexandra, Barakat, Tahsin Stefan, Bosch, Friedrich, Callewaert, Bert, Calvas, Patrick, Ceulemans, Berten, Chassaing, Nicolas, Depienne, Christel, Endziniene, Milda, Ferreira, Carlos R., Moura de Souza, Carolina Fischinger, Freihuber, Cécile, Ganesan, Shiva, Gataullina, Svetlana, Guerrini, Renzo, Guerrot, Anne‐Marie, Hansen, Lars, Jezela‐Stanek, Aleksandra, Karsenty, Caroline, Kievit, Anneke, Kooy, Frank R., Korff, Christian M., Kragh Hansen, Johanne, Larsen, Martin, Layet, Valérie, Lesca, Gaetan, McBride, Kim L., Meuwissen, Marije, Mignot, Cyril, Montomoli, Martino, Moore, Hannah, Naudion, Sophie, Nava, Caroline, Nougues, Marie‐Christine, Parrini, Elena, Pastore, Matthew, Schelhaas, Jurgen H., Skinner, Steven, Szczałuba, Krzysztoł, Thomas, Ashley, Thomassen, Mads, Tranebjærg, Lisbeth, Slegtenhorst, Marjon, Wolfe, Lynne A., Lal, Dennis, Gardella, Elena, Bomme Ousager, Lilian, Brünger, Tobias, Helbig, Ingo, Krawitz, Peter, Møller, Rikke S.

المصدر: EPILEPSIA ; ISSN: 0013-9580 ; ISSN: 1528-1167

مصطلحات موضوعية: Medicine and Health Sciences, Neurology, Clinical Neurology, bioinformatical comparison, Fryns syndrome phenotype, genotype-phenotype correlation, mild developmental delay, PIGA, ONSET EPILEPTIC ENCEPHALOPATHIES, GPI-ANCHORED PROTEINS, DEVELOPMENTAL DELAY, GERMLINE MUTATION, BIOSYNTHESIS, VARIANT, FAMILY, PHENOTYPES, SEIZURE, COMPLEX

وصف الملف: application/pdf

العلاقة: https://biblio.ugent.be/publication/8686026Test; http://hdl.handle.net/1854/LU-8686026Test; http://dx.doi.org/10.1111/epi.16545Test; https://biblio.ugent.be/publication/8686026/file/8686027Test

الإتاحة: https://doi.org/10.1111/epi.16545Test
https://biblio.ugent.be/publication/8686026Test
http://hdl.handle.net/1854/LU-8686026Test
https://biblio.ugent.be/publication/8686026/file/8686027Test

المؤلفون: Mulkey, Sarah B., Ng, Bobby G., Vezina, Gilbert L., Bulas, Dorothy I., Wolfe, Lynne A., Freeze, Hudson H., Ferreira, Carlos R.

المساهمون: NIH)NIH)

المصدر: Pediatric Neurology ; volume 94, page 64-69 ; ISSN 0887-8994

مصطلحات موضوعية: Neurology (clinical), Developmental Neuroscience, Neurology, Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1016/j.pediatrneurol.2018.12.009Test
https://api.elsevier.com/content/article/PII:S0887899418311573?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0887899418311573?httpAccept=text/plainTest

المؤلفون: Mulkey, Sarah B, Ng, Bobby G, Vezina, Gilbert L, Bulas, Dorothy I, Wolfe, Lynne A, Freeze, Hudson H, Ferreira, Carlos R

المصدر: Neurology Faculty Publications

مصطلحات موضوعية: Neurology

العلاقة: https://hsrc.himmelfarb.gwu.edu/smhs_neuro_facpubs/523Test

الإتاحة: https://hsrc.himmelfarb.gwu.edu/smhs_neuro_facpubs/523Test