Neurology / Neuropediatrics
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Myasthenic syndrome, congenital (NGS panel for 17 genes)
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Myasthenic syndrome, congenital (sequence analysis of CHAT gene)
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Myasthenic syndrome, congenital (sequence analysis of CHRNA1 gene)
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Myasthenic syndrome, congenital (sequence analysis of CHRNB1 gene)
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Myasthenic syndrome, congenital (sequence analysis of RAPSN gene)
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Myasthenic syndrome, congenital (sequence analysis of SCN4A gene)
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Myasthenic syndrome, congenital 8 (deletion/duplication analysis on AGRN gene)
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Myasthenic syndrome, congenital, 21, presynaptic (deletion/duplication analysis of SLC18A3 gene)
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Myasthenic syndrome, congenital, 21, presynaptic (sequence analysis of SLC18A3 gene)
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Myasthenic syndrome, congenital, 6 (deletion/duplication analysis on CHAT gene)
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Myeloid neoplasm, somatic (sequence analysis of EZH2 gene)
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Myoclonic dystonia (DYT11, deletion/duplication analysis on SGCE gene)
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Myoclonic dystonia (DYT11, sequence analysis of DRD2 gene)
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Myoclonic dystonia 11 (DYT11, sequence analysis of SGCE gene)
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Myoclonic epilepsy, infantile, familial (sequence analysis of TBC1D24 gene)
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Myoclonic epilepsy, juvenile (sequence analysis of CACNB4 gene)
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Myoclonic epilepsy, juvenile (sequence analysis of EFHC1 gene)
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Myoclonic-atonic epilepsy (deletion/duplication analysis of SLC6A1 gene)
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Myoclonic-atonic epilepsy (sequence analysis of SLC6A1 gene)
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Myopathies, including congenital myopathies (WES based NGS panel for 180 genes, including CNV analysis)
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