Neurology / Neuropediatrics
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Palizaeus-Merzbacher-like disease (sequence analysis of GJC2 gene)
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Panel of rearrangements associated with autism (deletion/duplication analysis on 15q11-13, 16p11, 22q13 regions)
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Panhypopituitarism, X-linked (sequence analysis of SOX3 gene)
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Paragangliomas 1,3 and 4 (deletion/duplication analysis on SDHD, SDHC and SDHB genes)
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Paragangliomas 5 (PGL5, sequence analysis of SDHA gene)
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Paragangliomas 5 and Pheochromocytoma (deletion/duplication analysis on SDHA and MAX genes)
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Parietal foramina 2 | Frontonasal dysplasia 2 (sequence analysis of ALX4 gene)
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Parkinson disease (deletion/duplication analysis on PARK2, PARK7, ATP13A2, PINK1, SNCA, LRRK2, UCHL1 and GCH1 genes)
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Parkinson disease 1/4 (PARK1/4, deletion/duplication analysis on SNCA gene)
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Parkinson disease 1/4 (PARK1/4, sequence analysis of SNCA gene)
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Parkinson disease 13 (PARK13, sequence analysis of HTRA2 gene)
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Parkinson disease 15 (PARK15, sequence analysis of FBXO7 gene)
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Parkinson disease 17 (PARK17, sequence analysis of VPS35 gene)
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Parkinson disease 19 (PARK19, sequence analysis of DNAJC6 gene)
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Parkinson disease 2 (PARK2, sequence analysis of PARK2 gene)
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Parkinson disease 20 (PARK20, sequence analysis of SYNJ1 gene)
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Parkinson disease 5 (PARK5, sequence analysis of UCHL1 gene)
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Parkinson disease 7 (PARK7, sequence analysis of PARK7/DJ1 gene)
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Parkinson disease 8 (PARK8, deletion/duplication analysis on LRRK2 gene)
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Parkinson disease 8 (PARK8, sequence analysis of LRRK2 gene)
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