Search Results - Al‐Owain, Mohammed
- Showing 1 - 4 results of 4
-
1
Heterogeneous clinical spectrum of DNAJC12-deficient hyperphenylalaninemia: from attention deficit to severe dystonia and intellectual disability by Spronsen, F. J. van (Author) , Himmelreich, Nastassja (Author) , Rüfenacht, Véronique (Author) , Shen, Nan (Author) , Vliet, Danique van (Author) , Al-Owain, Mohammed (Author) , Ramzan, Khushnooda (Author) , Alkhalifi, Salwa M. (Author) , Lunsing, Roelineke J. (Author) , Heiner-Fokkema, Rebecca M. (Author) , Rassi, Anahita (Author) , Gemperle-Britschgi, Corinne (Author) , Hoffmann, Georg F. (Author) , Blau, Nenad (Author) , Thöny, Beat (Author) ,
Call Number: Loading…
Located: Loading…
Article (Journal) Online Resource -
2
Erratum to: ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies by Morava-Kozicz, Eva (Author) , Tiemes, Vera (Author) , Thiel, Christian (Author) , Seta, Nathalie (Author) , Lonlay, Pascale de (Author) , Klerk, Hans de (Author) , Mulder, Margot (Author) , Rubio‐Gozalbo, Estela (Author) , Visser, Gepke (Author) , Hasselt, Peter van (Author) , Horovitz, Dafne D. G. (Author) , Souza, Carolina Fischinger Moura de (Author) , Schwartz, Ida V. D. (Author) , Green, Andrew (Author) , Al‐Owain, Mohammed (Author) , Uziel, Graciella (Author) , Sigaudy, Sabine (Author) , Chabrol, Brigitte (Author) , Spronsen, Franc-Jan van (Author) , Steinert, Martin (Author) , Komini, Eleni (Author) , Wurm, Donald (Author) , Bevot, Andrea (Author) , Ayadi, Addelkarim (Author) , Huijben, Karin (Author) , Dercksen, Marli (Author) , Witters, Peter (Author) , Jaeken, Jaak (Author) , Matthijs, Gert (Author) , Lefeber, Dirk J. (Author) , Wevers, Ron A. (Author) ,
Call Number: Loading…
Located: Loading…
Article (Journal) Online Resource -
3
ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies by Morava-Kozicz, Eva (Author) , Tiemes, Vera (Author) , Thiel, Christian (Author) , Seta, Nathalie (Author) , Lonlay, Pascale de (Author) , Klerk, Hans de (Author) , Mulder, Margot (Author) , Rubio‐Gozalbo, Estela (Author) , Visser, Gepke (Author) , Hasselt, Peter van (Author) , Horovitz, Dafne D. G. (Author) , Souza, Carolina Fischinger Moura de (Author) , Schwartz, Ida V. D. (Author) , Green, Andrew (Author) , Al‐Owain, Mohammed (Author) , Uziel, Graciella (Author) , Sigaudy, Sabine (Author) , Chabrol, Brigitte (Author) , Spronsen, Franc-Jan van (Author) , Steinert, Martin (Author) , Komini, Eleni (Author) , Wurm, Donald (Author) , Bevot, Andrea (Author) , Ayadi, Addelkarim (Author) , Huijben, Karin (Author) , Dercksen, Marli (Author) , Witters, Peter (Author) , Jaeken, Jaak (Author) , Matthijs, Gert (Author) , Lefeber, Dirk J. (Author) , Wevers, Ron A. (Author) ,
Call Number: Loading…
Located: Loading…
Article (Journal) Online Resource -
4
Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy by Cullup, Thomas (Author) , Kho, Ay L. (Author) , Dionisi-Vici, Carlo (Author) , Brandmeier, Birgit (Author) , Smith, Frances (Author) , Urry, Zoe (Author) , Simpson, Michael A. (Author) , Yau, Shu (Author) , Bertini, Enrico (Author) , McClelland, Verity (Author) , Al-Owain, Mohammed (Author) , Kölker, Stefan (Author) , Körner, Christian (Author) , Hoffmann, Georg F. (Author) , Wijburg, Frits A. (Author) , Hoedt, Amber E. ten (Author) , Rogers, Curtis (Author) , Manchester, David (Author) , Miyata, Rie (Author) , Hayashi, Masaharu (Author) , Said, Elizabeth (Author) , Soler, Doriette (Author) , Kroisel, Peter M. (Author) , Windpassinger, Christian (Author) , Filloux, Francis M. (Author) , Al-Kaabi, Salwa (Author) , Hertecant, Jozef (Author) , Del Campo, Miguel (Author) , Buk, Stefan (Author) , Bodi, Istvan (Author) , Goebel, Hans-Hilmar (Author) , Sewry, Caroline A. (Author) , Abbs, Stephen (Author) , Mohammed, Shehla (Author) , Josifova, Dragana (Author) , Gautel, Mathias (Author) , Jungbluth, Heinz (Author) ,
Call Number: Loading…
Located: Loading…
Article (Journal) Online Resource