Search Results - Kyllerman, Mårten

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  1. 1
    Autosomal dominant myopathy: Missense mutation (Glu-706 → Lys) in the myosin heavy chain IIa gene

    Autosomal dominant myopathy: Missense mutation (Glu-706 → Lys) in the myosin heavy chain IIa gene by Martinsson, Tommy, Oldfors, Anders, Darin, Niklas, Berg, Kerstin, Tajsharghi, Homa, Kyllerman, Mårten, Wahlström, Jan

    Published 2000
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  2. 2
    Diagnosis and management of glutaric aciduria type I – revised recommendations

    Diagnosis and management of glutaric aciduria type I – revised recommendations by Kölker, Stefan, Christensen, Ernst, Leonard, James V., Greenberg, Cheryl R., Boneh, Avihu, Burlina, Alberto B., Burlina, Alessandro P., Dixon, Marjorie, Duran, Marinus, García Cazorla, Angels, Goodman, Stephen I., Koeller, David M., Kyllerman, Mårten, Mühlhausen, Chris, Müller, Edith, Okun, Jürgen G., Wilcken, Bridget, Hoffmann, Georg F., Burgard, Peter

    Published 2011
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  3. 3
    Delineation and Diagnostic Criteria of Oral-Facial-Digital Syndrome Type VI

    Delineation and Diagnostic Criteria of Oral-Facial-Digital Syndrome Type VI by Poretti, Andrea, Vitiello, Giuseppina, Hennekam, Raoul CM, Arrigoni, Filippo, Bertini, Enrico, Borgatti, Renato, Brancati, Francesco, D'Arrigo, Stefano, Faravelli, Francesca, Giordano, Lucio, Huisman, Thierry AGM, Iannicelli, Miriam, Kluger, Gerhard, Kyllerman, Marten, Landgren, Magnus, Lees, Melissa M, Pinelli, Lorenzo, Romaniello, Romina, Scheer, Ianina, Schwarz, Christoph E, Spiegel, Ronen, Tibussek, Daniel, Valente, Enza Maria, Boltshauser, Eugen

    Published 2012
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  4. 4
    SLC9A6 Mutations Cause X-Linked Mental Retardation, Microcephaly, Epilepsy, and Ataxia, a Phenotype Mimicking Angelman Syndrome

    SLC9A6 Mutations Cause X-Linked Mental Retardation, Microcephaly, Epilepsy, and Ataxia, a Phenotype Mimicking Angelman Syndrome by Gilfillan, Gregor D., Selmer, Kaja K., Roxrud, Ingrid, Smith, Raffaella, Kyllerman, Mårten, Eiklid, Kristin, Kroken, Mette, Mattingsdal, Morten, Egeland, Thore, Stenmark, Harald, Sjøholm, Hans, Server, Andres, Samuelsson, Lena, Christianson, Arnold, Tarpey, Patrick, Whibley, Annabel, Stratton, Michael R., Futreal, P. Andrew, Teague, Jon, Edkins, Sarah, Gecz, Jozef, Turner, Gillian, Raymond, F. Lucy, Schwartz, Charles, Stevenson, Roger E., Undlien, Dag E., Strømme, Petter

    Published 2008
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