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ICF syndrome (deletion/duplication analysis of DNMT3B gene)
+ info
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Ichthyosis bullosa of Siemens (sequence analysis of KRT2 gene)
+ info
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Ichthyosis congenital 1, AR (sequence analysis of TGM1 gene)
+ info
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Ichthyosis prematurity syndrome (sequence analysis of SLC27A4 gene)
+ info
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Ichthyosis vulgaris (sequence analysis of FLG gene)
+ info
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Ichthyosis, AR 4B (harlequin) (deletion/duplication analysis on ABCA12 gene)
+ info
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Ichthyosis, AR 4B (harlequin) (sequence analysis of ABCA12 gene)
+ info
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Ichthyosis, congenital AR 5 (deletion/duplication analysis of CYP4F22 gene)
+ info
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Ichthyosis, congenital AR 5 (sequence analysis of CYP4F22 gene)
+ info
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Ichthyosis, congenital AR 8 (sequence analysis of LIPN gene)
+ info
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Ichthyosis, congenital, AR 10 (sequence analysis of PNPLA1 gene)
+ info
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Ichthyosis, congenital, AR 11 (deletion/duplication analysis of ST14 gene)
+ info
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Ichthyosis, congenital, AR 11 (sequence analysis of ST14 gene)
+ info
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Ichthyosis, congenital, AR 6 (sequence analysis of NIPAL4 gene)
+ info
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Ichthyosis, X-linked (deletion/duplication analysis on STS gene)
+ info
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Ichthyosis, X-linked (sequence analysis of STS gene)
+ info
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Idiopathic renal failure on young (WES based NGS panel of 171 genes, including CNV analysis)
+ info
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IFAP syndrome (sequence analysis of MBTPS2 gene)
+ info
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IGF1 deficiency (deletion/duplication analysis on IGF1 gene)
+ info
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IGK clonal rearrangement
+ info
