Pediatrics
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Saethre-Chotzen syndrome (deletion/duplication analysis on TWIST1 gene)
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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 of 5 genes)
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Scalp-ear-nipple syndrome (sequence analysis of KCTD1 gene)
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Schaaf-Yang syndrome (sequence analysis of MAGEL2 gene)
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Schimke immunoosseous dysplasia (sequece analysis of SMARCAL1 gene)
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Schindler disease, types I and III | Kanzaki disease (deletion/duplication analysis of NAGA)
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Schinzel-Giedion syndrome (sequence analysis of SETBP1 gene)
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Schizencephaly (sequence analysis of EMX2 gene)
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Schwartz-Jampel syndrome type 1 (sequence analysis of HSPG2 gene)
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Schwartz-Jampel syndrome types 1 and 2 (NGS panel for 2 genes)
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Sclerosteosis (sequence analysis of SOST gene)
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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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Segawa syndrome (sequence analysis of TH gene)
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Senior-Loken syndrome (NGS panel of 7 genes)
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