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Celogenomové a RNA masivně paralelní sek...
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Celogenomové a RNA masivně paralelní sekvenování jako nástroj pro objasnění příčin vzácných typů dědičných neuropatií
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1-19
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20-30
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31-40
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41-45
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46-63
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64-70
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71-83
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84-87
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88-108
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109-125
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Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2
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PFN2 and GAMT as common molecular determinants of axonal Charcot-Marie-Tooth disease
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Confirmation of the GNB4 gene as causal for Charcot-Marie-Tooth disease by a novel de novo mutation in a Czech patient
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Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants
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Novel SBF2 mutations and clinical spectrum of Charcot-Marie-Tooth neuropathy type 4B2
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Biomarkers predict outcome in Charcot-Marie-Tooth disease 1A
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Novel variant in the KCNK9 gene in a girl with Birk Barel syndrome
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Loss of Neurological Disease HSAN-I-Associated Gene SPTLC2 Impairs CD8+ T Cell Responses to Infection by Inhibiting T Cell Metabolic Fitness
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Characterization of molecular mechanisms underlying the axonal Charcot-Marie-Tooth neuropathy caused by MORC2 mutations
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Celogenomové a RNA masivně paralelní sekvenování jako nástroj pro objasnění příčin vzácných typů dědičných neuropatií
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