Neurology / Neuropediatrics
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Neuronopathy distal hereditary motor type IIA (sequence analysis of HSPB8 gene)
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Neuronopathy, distal hereditary motor (deletion/duplication analysis on IGHMBP2 gene)
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Neuropathy distal hereditary motor type VIIB (sequence analysis of DCTN1 gene)
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Neuropathy with sensory ataxic, dysarthria and progressive external opthalmoplegia (SANDO, sequence analysis of TWNK/C10orf2 gene)
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Neuropathy, ataxia, and retinitis pigmentosa (NARP, sequence analysis of MTATP6 gene)
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Neuropathy, hereditary motor and sensory, type VIB (sequence analysis of SLC25A46 gene)
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Neuropathy, hereditary sensory and autonomic type IC (HSNA1C, sequence analysis of SPTLC2 gene)
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Neuropathy, hereditary sensory type IE (sequence analysis of DNMT1 gene)
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Neutral lipid storage disease with myopathy (sequence analysis of PNPLA2 gene)
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Nicolaides-Baraitser syndrome (sequence analysis of SMARCA2 gene)
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Niemann-Pick disease (deletion/duplication analysis on NPC1, NPC2 and SMPD1 genes)
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Niemann-Pick disease (sequence analysis of NPC1 and NPC2 genes)
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Niemann-Pick disease type C1 (sequence analysis of NPC1 gene)
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Niemann-Pick disease type C2 (sequence analysis of NPC2 gene)
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Niemann-Pick disease types A and B (sequence analysis of SMPD1 gene)
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Nijmegen breakage syndrome (sequence analysis of NBN gene)
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Nijmegen breakage syndrome-like disorder (sequence analysis of RAD50 gene)
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Nocturnal frontal lobe epilepsy (NGS panel of 8 genes)
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Nocturnal frontal lobe epilepsy (sequence analysis of CHRNA2 gene)
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Nocturnal frontal lobe epilepsy (sequence analysis of CHRNA4 gene)
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