Neurology / Neuropediatrics
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Donnai-Barrow syndrome (sequence analysis of LRP2 gene)
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Donohue syndrome (sequence analysis of INSR gene)
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Duchenne/ Becker muscular dystrophy (sequence analysis of DMD gene)
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Dysautonomia, familial (sequence analysis of IKBKAP gene)
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Dyschromatosis universalis hereditaria 3 | Microphthalmia, isolated, with coloboma 7 | Pseudohyperkalemia, familial, 2, due to red cell leak (sequence analysis of ABCB6 gene)
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Dystonia (WES based NGS panel for 117 genes, including CNV analysis)
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Dystonia juvenile-onset (sequence analysis of ACTB gene)
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Dystonia type 6 (DYT6, sequence analysis of THAP1 gene)
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Dystonia, DOPA-responsive (DYT5, sequence analysis of GCH1 gene)
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Dystonia, DOPA-responsive, AR (sequence analysis of SPR gene)
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Early infantile epileptic encephalopathy 4 (sequence analysis of STXBP1 gene)
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Early infantile epileptic encephalopathy EIEE52 (deletion/duplication analysis on SCN1B gene)
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Early infantile epileptic encephalopathy type 10 (sequence analysis of PNKP gene)
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Early infantile epileptic encephalopathy type 12 (sequence analysis of PLCB1 gene)
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Early infantile epileptic encephalopathy type 5 (sequence analysis of SPTAN1 gene)
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Ehlers-Danlos syndrome, progeroid type (sequence analysis of B3GALT6 gene)
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Ellis Van Creveld syndrome (NGS panel of 12 genes)
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Ellis Van Creveld syndrome (sequence analysis of EVC gene)
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Ellis Van Creveld syndrome (sequence analysis of EVC2 gene)
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Emery-Dreifuss muscular dystrophy (sequence analysis of LMNA gene)
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