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1 Ergebnisse
1
Loss of UGP2 in brain leads to a severe epileptic encephalo..:
Perenthaler, E. (Elena)
;
Nikoncuk, A. (Anita)
;
Yousefi, S. (Soheil)
...
http://repub.eur.nl/pub/122932. , 2019
Link:
http://repub.eur.nl/pub/122932
RT Journal T1
Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases
UL https://suche.suub.uni-bremen.de/peid=base-ftunivrotterdam:oai:repub.eur.nl:122932&Exemplar=1&LAN=DE A1 Perenthaler, E. (Elena) A1 Nikoncuk, A. (Anita) A1 Yousefi, S. (Soheil) A1 Berdowski, W.M. (Woutje M.) A1 Alsagob, M. (Maysoon) A1 Capo, I. (Ivan) A1 Linde, H.C. (Herma) van der A1 van den Berg, P. (Paul) A1 Jacobs, E.H. (Edwin H.) A1 Putar, D. (Darija) A1 Ghazvini, M. (Mehrnaz) A1 Aronica, E.M.A. (Eleonora) A1 IJcken, W.F.J. (Wilfred) van A1 de Valk, W.G. (Walter G.) A1 Medici-van den Herik, E. (Evita) A1 Slegtenhorst, M.A. (Marjon) van A1 Brick, L. (Lauren) A1 Kozenko, M. (Mariya) A1 Kohler, J.N. (Jennefer N.) A1 Bernstein, J.A. (Jonathan A.) A1 Monaghan, K.G. (Kristin G.) A1 Begtrup, A. (Amber) A1 Torene, R. (Rebecca) A1 Al Futaisi, A. (Amna) A1 Al Murshedi, F. (Fathiya) A1 Mani, R. (Renjith) A1 Al Azri, F. (Faisal) A1 Kamsteeg, E.J. (Erik-Jan) A1 Mojarrad, M. (Majid) A1 Eslahi, A. (Atieh) A1 Khazaei, Z. (Zaynab) A1 Darmiyan, F.M. (Fateme Massinaei) A1 Doosti, M. (Mohammad) A1 Karimiani, E.G. (Ehsan Ghayoor) A1 Vandrovcova, J. (Jana) A1 Zafar, F. (Faisal) A1 Rana, N. (Nuzhat) A1 Kandaswamy, K.K. (Krishna K.) A1 Hertecant, J. (Jozef) A1 Bauer, P. (Peter) A1 AlMuhaizea, M.A. (Mohammed A.) A1 Salih, M.A. (Mustafa A.) A1 Aldosary, M. (Mazhor) A1 Almass, R. (Rawan) A1 Al-Quait, L. (Laila) A1 Qubbaj, W. (Wafa) A1 Coskun, S. (Serdar) A1 Alahmadi, K.O. (Khaled O.) A1 Hamad, M.H.A. (Muddathir H. A.) A1 Alwadaee, S. (Salem) A1 Awartani, K. (Khalid) A1 Dababo, A.M. (Anas M.) A1 Almohanna, F. (Futwan) A1 Colak, D. (Dilek) A1 Dehghani, M. (Mohammadreza) A1 Mehrjardi, M.Y.V. (Mohammad Yahya Vahidi) A1 Günel, M. (Murat) A1 Ercan-Sencicek, A.G. (A. Gulhan) A1 Passi, G.R. (Gouri Rao) A1 Cheema, H.A. (Huma Arshad) A1 Efthymiou, S. (Stephanie) A1 Houlden, H. (Henry) A1 Bertoli Avella, A.M. (Aida) A1 Brooks, A.S. (Alice) A1 Retterer, K. (Kyle) A1 Maroofian, R. (Reza) A1 Kaya, N. (Namik) A1 Ham, T.J. (Tjakko) van A1 Barakat, T.S. (Tahsin Stefan) YR 2019 K1 ATG mutations K1 Epileptic encephalopathy K1 Essential gene K1 Founder mutation K1 Genetics K1 Microcephaly K1 Recurrent mutation K1 Start-loss mutation K1 UGP2 K1 Whole exome sequencing JF http://repub.eur.nl/pub/122932 LK http://repub.eur.nl/pub/122932 DO http://repub.eur.nl/pub/122932 SF ELIB - SuUB Bremen
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