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Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.
Hum Mutat. 2012 Jun;33(6):949-59. doi: 10.1002/humu.22067. Epub 2012 Apr 4.
Hum Mutat. 2012.
PMID: 22396310
Free PMC article.
Lessons learned from 40 novel PIGA patients and a review of the literature.
Bayat A, Knaus A, Pendziwiat M, Afenjar A, Barakat TS, Bosch F, Callewaert B, Calvas P, Ceulemans B, Chassaing N, Depienne C, Endziniene M, Ferreira CR, Moura de Souza CF, Freihuber C, Ganesan S, Gataullina S, Guerrini R, Guerrot AM, Hansen L, Jezela-Stanek A, Karsenty C, Kievit A, Kooy FR, Korff CM, Kragh Hansen J, Larsen M, Layet V, Lesca G, McBride KL, Meuwissen M, Mignot C, Montomoli M, Moore H, Naudion S, Nava C, Nougues MC, Parrini E, Pastore M, Schelhaas JH, Skinner S, Szczałuba K, Thomas A, Thomassen M, Tranebjaerg L, van Slegtenhorst M, Wolfe LA, Lal D, Gardella E, Bomme Ousager L, Brünger T, Helbig I, Krawitz P, Møller RS.
Bayat A, et al. Among authors: bomme ousager l.
Epilepsia. 2020 Jun;61(6):1142-1155. doi: 10.1111/epi.16545. Epub 2020 May 26.
Epilepsia. 2020.
PMID: 32452540
Review.
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Distinct mutations in STXBP2 are associated with variable clinical presentations in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL5).
Pagel J, Beutel K, Lehmberg K, Koch F, Maul-Pavicic A, Rohlfs AK, Al-Jefri A, Beier R, Bomme Ousager L, Ehlert K, Gross-Wieltsch U, Jorch N, Kremens B, Pekrun A, Sparber-Sauer M, Mejstrikova E, Wawer A, Ehl S, zur Stadt U, Janka G.
Pagel J, et al. Among authors: bomme ousager l.
Blood. 2012 Jun 21;119(25):6016-24. doi: 10.1182/blood-2011-12-398958. Epub 2012 Mar 26.
Blood. 2012.
PMID: 22451424
Free article.
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