Neurology / Neuropediatrics
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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 (deletion/duplication analysis of EVC and EVC2 genes)
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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 type 5, AD (sequence analysis of SYNE2 gene)
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Emery-Dreifuss muscular dystrophy type 7, AD (sequence analysis of TMEM43 gene)
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Encephalomyopathy, mitochondrial (sequence analysis of MT-TL2 gene)
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Encephalopathy (deletion/duplication analysis on MECP2 gene)
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Encephalopathy lethal, due to defective mitochondrial peroxisomal fission (sequence analysis of DNM1L gene)
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Encephalopathy with neuroserpin inclusion bodies (sequence analysis of SERPINI1 gene)
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Encephalopathy, progressive, early-onset, with brain atrophy and spasticity (deletion/duplication analysis of TRAPPC12 gene)
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Encephalopathy, progressive, early-onset, with brain atrophy and spasticity (sequence analysis of TRAPPC12 gene)
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Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum (PEBAT, deletion/duplication analysis of TBCD gene)
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Epidermolysis bullosa simplex with muscular dystrophy (deletion / duplication in the PLEC gene)
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