Neurology / Neuropediatrics
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Salla disease (sequence analysis of SLC17A5 gene)
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Sanjad-Sakati syndrome | Kenny-Caffey syndrome (deletion/duplication analysis on TBCE gene)
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Sanjad-Sakati syndrome | Kenny-Caffey syndrome (sequence analysis of TBCE gene)
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Sarcoglycanopathies (NGS panel for 5 genes)
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Schaaf-Yang syndrome (sequence analysis of MAGEL2 gene)
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Schizencephaly (sequence analysis of EMX2 gene)
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Schizophrenia susceptibility | Amyotrophic lateral sclerosis susceptibility (sequence analysis of DAO gene)
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Schwartz-Jampel syndrome types 1 and 2 (NGS panel for 2 genes)
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Seckel syndrome (NGS panel of 11 genes)
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Seckel syndrome 1 (sequence analysis of ATR gene)
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Seckel syndrome 2 (sequence analysis of RBBP8 gene)
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Seckel syndrome 2 | Jawad syndrome (deletion/duplication analysis on RBBP8 gene)
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Seckel syndrome 7 (deletion/duplication on NIN gene)
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Seckel syndrome type 6 (sequence analysis of CEP63 gene)
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Segawa syndrome (sequence analysis of TH gene)
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Senior-Loken Syndrome (sequence analysis of NPHP1 gene)
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Sensory ataxic neuropathy, dysarthria and ophthalmoparesis (SANDO, sequence analysis of POLG gene)
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Septooptic dysplasia (WES based NGS panel for 17 gene)
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Sequence analysis of LMNA gene (lamin A/C)
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Sequence analysis of PLEKHG4 gene
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