المؤلفون: Mobarak, A., Stockler, S., Salvarinova, R., Karnebeek, C.D. van, Horvath, G.A.

المصدر: Molecular Genetics and Metabolism Reports, 27

مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Radboudumc 6: Metabolic Disorders RIMLS: Radboud Institute for Molecular Life Sciences

Relation: https://repository.ubn.ru.nl//bitstream/handle/2066/245075/245075.pdf; https://repository.ubn.ru.nl/handle/2066/245075

الاتاحة: https://repository.ubn.ru.nl//bitstream/handle/2066/245075/245075.pdf
https://repository.ubn.ru.nl/handle/2066/245075
https://doi.org/10.1016/j.ymgmr.2021.100757

المؤلفون: Balci, T.B., Hartley, T., Xi, Y., Dyment, D.A., Beaulieu, C.L., Bernier, F.P., Dupuis, L., Horvath, G.A., Mendoza‐Londono, R., Prasad, C., Richer, J., Yang, X.‐R., Armour, C.M., Bareke, E., Fernandez, B.A., McMillan, H.J., Lamont, R.E., Majewski, J., Parboosingh, J.S., Prasad, A.N., Rupar, C.A., Schwartzentruber, J., Smith, A.C., Tétreault, M., Innes, A.M., Boycott, K.M.

المساهمون: Canadian Institutes of Health Research, Ontario Genomics Institute

المصدر: Clinical Genetics ; volume 92, issue 3, page 281-289 ; ISSN 0009-9163 1399-0004

الاتاحة: http://dx.doi.org/10.1111/cge.12987
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fcge.12987
https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.12987

المؤلفون: Hartley, T., Wagner, J.D., Warman‐Chardon, J., Tétreault, M., Brady, L., Baker, S., Tarnopolsky, M., Bourque, P.R., Parboosingh, J.S., Smith, C., McInnes, B., Innes, A.M., Bernier, F., Curry, C.J., Yoon, G., Horvath, G.A., Bareke, E., Gillespie, M., Majewski, J., Bulman, D.E., Dyment, D.A., Boycott, K.M.

المساهمون: Canadian Institutes of Health Research, Ontario Genomics Institute

المصدر: Clinical Genetics ; volume 93, issue 2, page 301-309 ; ISSN 0009-9163 1399-0004

الاتاحة: http://dx.doi.org/10.1111/cge.13101
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fcge.13101
https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13101

المؤلفون: Tarailo-Graovac, M., Shyr, C., Ross, C.J., Horvath, G.A., Salvarinova, R., Ye, X.C., Zhang, L.H., Bhavsar, A.P., Lee, J.J., Drögemöller, B.I., Abdelsayed, M., Alfadhel, M., Armstrong, L., Baumgartner, M.R., Burda, P., Connolly, M.B., Cameron, J., Demos, M., Dewan, T., Dionne, J., Evans, A.M., Friedman, J.M., Garber, I., Lewis, S., Ling, J., Mandal, R., Mattman, A., McKinnon, M., Michoulas, A., Metzger, D., Ogunbayo, O.A., Rakic, B., Rozmus, J., Ruben, P., Sayson, B., Santra, S., Schultz, K.R., Selby, K., Shekel, P., Sirrs, S., Skrypnyk, C., Superti-Furga, A., Turvey, S.E., Allen, M.I. van, Wishart, D., Wu, J., Zafeiriou, D., Kluijtmans, L.A.J., Wevers, R.A., Eydoux, P., Lehman, A.M., Vallance, H., Stockler-Ipsiroglu, S., Sinclair, G., Wasserman, W.W., Karnebeek, C.D. van

المصدر: The New England Journal of Medicine, 374, 23, pp. 2246-2255

مصطلحات موضوعية: Radboudumc 0: Other Research RIMLS: Radboud Institute for Molecular Life Sciences, Radboudumc 3: Disorders of movement DCMN: Donders Center for Medical Neuroscience

Relation: http://hdl.handle.net/2066/167786

الاتاحة: http://hdl.handle.net/2066/167786
https://doi.org/10.1056/NEJMoa1515792

المؤلفون: Mercimek-Mahmutoglu, S., Horvath, G.A., Coulter-Mackie, M., Nelson, T., Waters, P.J., Sargent, M., Struijs, E.A., Jakobs, C.A.J.M., Stockler-Ipsiroglu, S., Connolly, M.B.

المصدر: Mercimek-Mahmutoglu , S , Horvath , G A , Coulter-Mackie , M , Nelson , T , Waters , P J , Sargent , M , Struijs , E A , Jakobs , C A J M , Stockler-Ipsiroglu , S & Connolly , M B 2012 , ' Profound Neonatal Hypoglycemia and Lactic Acidosis Caused by Pyridoxine-Dependent Epilepsy ' , Pediatrics , vol. 129 , no. 5 , pp. E1368-E1372 . https://doi.org/10.1542/peds.2011-0123

الاتاحة: https://research.vumc.nl/en/publications/3e305a97-bddc-42a3-8b8b-c5c37cd8eb53
https://doi.org/10.1542/peds.2011-0123

المؤلفون: Mercimek-Mahmutoglu, S., Connolly, M.B., Poskitt, K.J., Horvath, G.A., Lowry, N., Salomons, G.S., Casey, B., Sinclair, G., Davis, C., Jakobs, C., Stockler-Ipsiroglu, S.

المصدر: Mercimek-Mahmutoglu , S , Connolly , M B , Poskitt , K J , Horvath , G A , Lowry , N , Salomons , G S , Casey , B , Sinclair , G , Davis , C , Jakobs , C & Stockler-Ipsiroglu , S 2010 , ' Treatment of intractable epilepsy in a female with SLC6A8 deficiency ' , Molecular Genetics and Metabolism , vol. 101 , no. 4 , pp. 409-412 . https://doi.org/10.1016/j.ymgme.2010.08.016

الاتاحة: https://research.vumc.nl/en/publications/2e1ae951-9622-4cba-baaf-14306c916258
https://doi.org/10.1016/j.ymgme.2010.08.016

المؤلفون: Sacco, G.F., Barltrop, K.J., Cin-Young Lee, Horvath, G.A., Terrile, R.J., Seungwon Lee

المصدر: 2009 IEEE Aerospace conference; 2009, p1-7, 7p

المؤلفون: Barltrop, K.J., Friberg, K.H., Horvath, G.A.

المصدر: 2008 IEEE Aerospace Conference; 2008, p1-10, 10p