Neurology / Neuropediatrics

• Combined oxidative phosphorylation deficiency type 1 (sequence analysis of GFM1 gene) + info
   
• Combined oxidative phosphorylation deficiency type 11 (sequence analysis of RMND1gene) + info
   
• Combined oxidative phosphorylation deficiency type 15 (deletion/duplication analysis on MTFMT) + info
   
• Combined oxidative phosphorylation deficiency type 15 (sequence analysis of MTFMT gene) + info
   
• Combined oxidative phosphorylation deficiency type 3 (sequence analysis of TSFM gene) + info
   
• Combined oxidative phosphorylation deficiency type 4 (sequence analysis of TUFM gene) + info
   
• Combined oxidative phosphorylation deficiency type 6 (sequence analysis of AIFM1 gene) + info
   
• Complete mitochondrial DNA sequencing + info
   
• Compton-North congenital myopathy (sequence analysis of CNTN1 gene) + info
   
• Congenital disorder of glycosylation type 1P (sequence analysis of ALG11 gene) + info
   
• Congenital disorder of glycosylation type 1u (sequence analysis of DPM2 gene) + info
   
• Congenital disorder of glycosylation type 1v (sequence analysis of NGLY1 gene) + info
   
• Congenital disorder of glycosylation type Ia (deletion/duplication analysis on PMM2 gene) + info
   
• Congenital disorder of glycosylation type Ia (sequence analysis of PMM2 gene) + info
   
• Congenital disorder of glycosylation type Ib (sequence analysis of MPI gene) + info
   
• Congenital disorder of glycosylation type Iq (sequence analysis of SRD5A3 gene) + info
   
• Congenital disorder of glycosylation type Iw (sequence analysis of STT3A gene) + info
   
• Congenital disorder of glycosylation type Ix (sequence analysis of STT3B gene) + info
   
• Congenital disorders of glycosylation (NGS panel for 39 genes) + info
   
• Congenital fibrosis of extraocular muscles (sequence analysis of TUBB2B gene) + info
   

• 1
• 2
• 3
• 4
• 5
• 6
• 7
• 8
• 9
• 10
• 11
• 12
• 13
• 14
• 15
• 16
• 17
• 18
• 19
• 20
• 21
• 22
• 23
• 24
• 25
• 26
• 27
• 28
• 29
• 30
• 31
• 32
• 33
• 34
• 35
• 36
• 37
• 38
• 39
• 40
• 41
• 42
• 43
• 44
• 45
• 46
• 47
• 48
• 49
• 50
• 51
• 52
• 53
• 54
• 55
• 56
• 57
• 58
• 59
• 60
• 61
• 62
• 63
• 64
• 65
• 66
• 67
• 68
• 69
• 70
• 71
• 72
• 73
• 74
• 75
• 76
• 77