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Mutations at Ser331 in the HSN type I gene SPTLC1 are associated with a distinct syndromic phenotype
by Auer-Grumbach, Michaela, Bode, Heiko, Pieber, Thomas R., Schabhüttl, Maria, Fischer, Dirk, Seidl, Rainer, Graf, Elisabeth, Wieland, Thomas, Schuh, Reinhard, Vacariu, Gerda, Grill, Franz, Timmerman, Vincent, Strom, Tim M., Hornemann, Thorsten
Published 2013
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by Ernst, Daniela, Murphy, Sinéad M., Sathiyanadan, Karthik, Wei, Yu, Othman, Alaa, Laurá, Matilde, Liu, Yo-Tsen, Penno, Anke, Blake, Julian, Donaghy, Michael, Houlden, Henry, Reilly, Mary M., Hornemann, Thorsten
Published 2015
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by Laaksonen, Reijo, Ekroos, Kim, Sysi-Aho, Marko, Hilvo, Mika, Vihervaara, Terhi, Kauhanen, Dimple, Suoniemi, Matti, Hurme, Reini, März, Winfried, Scharnagl, Hubert, Stojakovic, Tatjana, Vlachopoulou, Efthymia, Lokki, Marja-Liisa, Nieminen, Markku S., Klingenberg, Roland, Matter, Christian M., Hornemann, Thorsten, Jüni, Peter, Rodondi, Nicolas, Räber, Lorenz, Windecker, Stephan, Gencer, Baris, Pedersen, Eva Ringdal, Tell, Grethe S., Nygård, Ottar, Mach, Francois, Sinisalo, Juha, Lüscher, Thomas F.
Published 2016
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