Neurology / Neuropediatrics
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Neurofibromatosis type 1 (sequencing and CNV analyses of NF1 gene)
+ info
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Neurofibromatosis type 2 (sequence analysis of NF2 gene)
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Neurofibromatosis type I (deletion/duplication analysis on NF1 gene)
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Neurofibromatosis type II (deletion/duplication analysis on NF2 gene)
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Neurofibromatosis types 1 and 2, Legius syndrome and schwannomatosis (NGS panel of 5 genes)
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Neurofibromatosis-Noonan syndrome (sequence analysis of NF1 gene)
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Neurogenic scapuloperoneal syndrome, Kaeser type (sequence analysis of DES gene)
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Neuromyotonia and axonal neuropathy AR (sequence analysis of HINT1 gene)
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Neuronal ceroid lipofuscinosis (deletion/duplication analysis on CLN3, CLN6, CLN8, PPT1 and TPP1 genes)
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Neuronal ceroid lipofuscinosis (NGS panel of 11 genes)
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Neuronal ceroid lipofuscinosis (sequence analysis of CTSD gene)
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Neuronal ceroid lipofuscinosis 1 (sequence analysis of PPT1 gene)
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Neuronal ceroid lipofuscinosis 2 (sequence analysis of TPP1 gene)
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Neuronal ceroid lipofuscinosis 3 (sequence analysis of CLN3 gene)
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Neuronal ceroid lipofuscinosis 4 (sequence analysis of DNAJC5 gene)
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Neuronal ceroid lipofuscinosis 5 (sequence analysis of CLN5 gene)
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Neuronal ceroid lipofuscinosis 6 (sequence analysis of CLN6 gene)
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Neuronal ceroid lipofuscinosis 7 (CLN7, sequence analysis of MFSD8 gene)
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Neuronal ceroid lipofuscinosis 8 (sequence analysis of CLN8 gene)
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Neuronal migration disorder (sequence analysis of CTNNA2 gene)
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