Neurology / Neuropediatrics
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Kleefstra syndrome (sequence analysis of EHMT1 gene)
+ info
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Klippel-Feil syndrome (NGS panel of 5 genes)
+ info
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Klippel-Feil syndrome (sequence analysis of the PAX1 gene)
+ info
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Klippel-Feil syndrome 1 (sequence analysis of GDF6 gene)
+ info
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Klippel-Feil syndrome 2 (sequence analysis of MEOX1 gene)
+ info
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Klippel-Feil syndrome type 3, AD (sequence analysis of GDF3 gene)
+ info
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Kohlschutter Tonz syndrome (sequence analysis of ROGDI gene)
+ info
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Koolen-De Vries syndrome (detection of 17q21.31 region deletion by MLPA)
+ info
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Koolen-De Vries syndrome (sequence analysis of KANSL1 gene)
+ info
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Krabbe disease (deletion/duplication analysis on GALC gene)
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Krabbe disease (sequence analysis of GALC gene)
+ info
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L-2-hydroxyglutaric aciduria (sequence analysis of L2HGDH gene)
+ info
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Lacticacidemia due to PDX1 deficiency (sequence analysis of PDHX gene)
+ info
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Late-onset alzheimer disease susceptibility (sequence analysis of NOS3 gene)
+ info
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Legius syndrome (deletion/duplication analysis of SPRED1 gene)
+ info
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Legius syndrome (sequence analysis of SPRED1 gene)
+ info
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Leigh syndrome (m.8993T>G and m.8993T>C mutation on MT-ATP6 gene)
+ info
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Leigh syndrome (NGS panel for 11 genes)
+ info
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Leigh syndrome (sequence analysis of COX15 gene)
+ info
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Leigh syndrome (sequence analysis of FOXRED1 gene)
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