Neurology / Neuropediatrics
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Kabuki syndrome (deletion/duplication analysis on KDM6A gene)
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Kabuki syndrome (deletion/duplication analysis on KMT2D gene)
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Kabuki syndrome (sequence analysis of KMT2D gene)
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Kabuki syndrome 2 (sequence analysis of KDM6A gene)
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KBG syndrome (deletion/duplication analysis on ANKRD11 gene)
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KBG syndrome (sequence analysis of ANKRD11 gene)
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Kearns-Sayre syndrome (KSS, 4977bp deletion in mtDNA)
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Kennedy disease (SBMA, CAG expansion on AR gene)
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Keutel syndrome (sequence analysis of MGP gene)
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Kleefstra syndrome (deletion/duplication analysis of KMT2C gene)
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Kleefstra syndrome (deletion/duplication analysis on EHMT1 gene)
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Kleefstra syndrome (sequence analysis of EHMT1 gene)
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Klippel-Feil syndrome (NGS panel of 5 genes)
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Klippel-Feil syndrome (sequence analysis of the PAX1 gene)
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Klippel-Feil syndrome 1 (sequence analysis of GDF6 gene)
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Klippel-Feil syndrome 2 (sequence analysis of MEOX1 gene)
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Klippel-Feil syndrome type 3, AD (sequence analysis of GDF3 gene)
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Kohlschutter Tonz syndrome (sequence analysis of ROGDI gene)
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Koolen-De Vries syndrome (detection of 17q21.31 region deletion by MLPA)
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Koolen-De Vries syndrome (sequence analysis of KANSL1 gene)
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