Neurology / Neuropediatrics
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X-linked Emery-Dreifuss muscular dystrophy type 6 (sequence analysis of FHL1 gene)
+ info
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X-linked mental retardation (deletion/duplication analysis, multiple genes)
+ info
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X-linked mental retardation, Siderius type (deletion/duplication analysis on PHF8 gene)
+ info
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X-linked non-specific intellectual disability (deletion/duplication analysis on FRMPD4 gene)
+ info
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Xanthinuria type I (sequence analysis of XDH gene)
+ info
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Xanthinuria type II (sequence analysis of MOCOS gene)
+ info
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Xeroderma pigmentosum disease (NGS panel for 8 genes)
+ info
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Xeroderma pigmentosum disease (sequence analysis of XPA gene)
+ info