检索结果 - Violeta Mihaylova
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Molecular characterisation of congenital myasthenic syndromes in Southern Brazil 由 Violeta Mihaylova, Rosana Hermínia Scola, Bianca Lamas Gervini, Paulo José Lorenzoni, Claudia Kay, Lineu César Werneck, Rolf Stucka, Velina Guergueltcheva, Maja von der Hagen, Angela Huebner, Angela Abicht, Juliane S. Müller, Hanns Lochmüller
出版 2010Artigo -
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Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes 由 Violeta Mihaylova, Juliane S. Müller, Juan J. Vílchez, Mustafa A. Salih, Mohammad M. Kabiraj, Adele D’Amico, Enrico Bertini, Joachim Wölfle, Felix Schreiner, Gerhard Kurlemann, Vedrana Milić Rašić, Dana Šišková, J. Colomer, Ágnes Herczegfalvi, Katarina Fabriciova, Bernhard Weschke, Rosana Hermínia Scola, Friederike Hoellen, Ulrike Schara, Angela Abicht, Hanns Lochmüller
出版 2008Artigo
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Medicine
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Congenital myasthenic syndrome
Gene
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Neuroscience
Acetylcholinesterase
Biochemistry
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Enzyme
Genotype
Haplotype
Huntington's disease
Muscle weakness
Neurology
Neuromuscular junction
Neuromuscular transmission
Neuroradiology
Physical medicine and rehabilitation
Psychiatry
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