Neurology / Neuropediatrics
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Combined oxidative phosphorylation deficiency type 26 (deletion/duplication analysis of TRMT5)
+ info
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Combined oxidative phosphorylation deficiency type 3 (sequence analysis of TSFM gene)
+ info
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Combined oxidative phosphorylation deficiency type 4 (sequence analysis of TUFM gene)
+ info
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Combined oxidative phosphorylation deficiency type 6 (sequence analysis of AIFM1 gene)
+ info
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Complete mitochondrial DNA sequencing
+ info
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Compton-North congenital myopathy (sequence analysis of CNTN1 gene)
+ info
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Congenital disorder of glycosylation type 1P (sequence analysis of ALG11 gene)
+ info
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Congenital disorder of glycosylation type 1u (sequence analysis of DPM2 gene)
+ info
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Congenital disorder of glycosylation type 1v (sequence analysis of NGLY1 gene)
+ info
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Congenital disorder of glycosylation type Ia (deletion/duplication analysis on PMM2 gene)
+ info
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Congenital disorder of glycosylation type Ia (sequence analysis of PMM2 gene)
+ info
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Congenital disorder of glycosylation type Ib (sequence analysis of MPI gene)
+ info
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Congenital disorder of glycosylation type In (deletion/duplication analysis of RFT1 gene)
+ info
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Congenital disorder of glycosylation type Iq (sequence analysis of SRD5A3 gene)
+ info
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Congenital disorder of glycosylation type Iw (sequence analysis of STT3A gene)
+ info
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Congenital disorder of glycosylation type Ix (sequence analysis of STT3B gene)
+ info
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Congenital disorders of glycosylation (NGS panel for 39 genes)
+ info
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Congenital fibrosis of extraocular muscles (sequence analysis of TUBB2B gene)
+ info
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Congenital fibrosis of extraocular muscles (sequence analysis of TUBB3 gene)
+ info
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Congenital hypopituitarism (NGS panel for 7 genes)
+ info
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