Neurology / Neuropediatrics
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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 (NGS panel for 10 genes)
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Nemaline myopathy 1 (sequence analysis of TPM3 gene)
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Nemaline myopathy 2 (sequence analysis of NEB gene)
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Nemaline myopathy 4 (sequence analysis of TPM2 gene)
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Nemaline myopathy 5 (sequence analysis of TNNT1 gene)
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Nemaline myopathy 6 (sequence analysis of KBTBD13 gene)
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Nemaline myopathy 7 (sequence analysis of CFL2 gene)
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Nephropathy due to CFHR5 deficiency (sequence analysis of CFHR5 gene)
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Neuroacanthocytosis (sequence analysis of VPS13A gene)
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Neuroacanthocytosis, Mcleod type (sequence analysis of XK gene)
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Neuroblastoma (sequence analysis of ALK gene)
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Neuroblastoma (sequence analysis of NME1 gene)
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Neurodegeneration due to cerebral folate transport deficiency (sequence analysis of FOLR1 gene)
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Neurodegeneration with brain iron accumulation (deletion/duplication analysis on PANK2 and PLA2G6 genes)
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