Neurology / Neuropediatrics
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X-linked mental retardation (deletion/duplication analysis, multiple genes)
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X-linked mental retardation, Siderius type (deletion/duplication analysis on PHF8 gene)
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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)
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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
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Zellweger syndrome (deletion/duplication analysis of PEX1 gene)
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Zellweger syndrome (NGS panel of 12 genes)
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Zellweger syndrome (sequence analysis of PEX1 gene)
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Zellweger syndrome (sequence analysis of PEX10 gene)
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Zellweger syndrome (sequence analysis of PEX12 gene)
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Zellweger syndrome (sequence analysis of PEX13 gene)
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Zellweger syndrome (sequence analysis of PEX14 gene)
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Zellweger syndrome (sequence analysis of PEX16 gene)
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Zellweger syndrome (sequence analysis of PEX19 gene)
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Zellweger syndrome (sequence analysis of PEX2 gene)
+ info
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Zellweger syndrome (sequence analysis of PEX26 gene)
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Zellweger syndrome (sequence analysis of PEX3 gene)
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Zellweger syndrome (sequence analysis of PEX5 gene)
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