Neurology / Neuropediatrics
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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 of 180 genes, including CNV analysis)
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Myopathy (sequence analysis of MTTQ gene)
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Myopathy, centronuclear 3 (sequence analysis of MYF6 gene)
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Myopathy, centronuclear 4 (sequence analysis of CCDC78 gene)
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Myopathy, mitochondrial (sequence analysis of MTTM gene)
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Myopathy, myofibrillar 4 (sequence analysis of LDB3 gene)
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Myopathy, myofibrillar 6 (sequence analysis of BAG3 gene)
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Myopathy, myofibrillar, fatal infantile hypertrophy, alpha-B crystallin-related (sequence analysis of CRYAB gene)
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Myotilinopathy (sequence analysis of MYOT gene)
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Myotonia congenita (sequence analysis of CLCN1 gene)
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N-acetylglutamate synthase deficiency (sequence analysis of NAGS gene)
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Nance-Horan syndrome (sequence analysis of NHS gene)
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Narcolepsy 1 (sequence analysis of HCRT gene)
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Nasu-Hakola disease (sequence analysis of TREM2 gene)
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Nasu-Hakola disease (sequence analysis of TYROBP gene)
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Navajo neurohepatopathy (sequence analysis of MPV17 gene)
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Nemaline myopathy 1 (sequence analysis of TPM3 gene)
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