Neurology / Neuropediatrics

• Congenital mirror movements type 1 (deletion/duplication analysis of DCC gene) + info
   
• Congenital mirror movements type 1 (sequence analysis of DCC gene) + info
   
• Congenital muscular dystrophies (NGS panel for 31 genes) + info
   
• Congenital muscular dystrophies (WES based NGS panel of 46 genes, including CNV analysis) + info
   
• Congenital muscular dystrophy and hypoglycosylation of a-dystroglycan (sequence analysis of B3GALNT2 gene) + info
   
• Congenital muscular dystrophy with intellectual disability, type B, 6 (sequence analysis of LARGE gene) + info
   
• Congenital Myasthenia (WES based NGS panel of 28 genes, including CNV analysis) + info
   
• Congenital myasthenic syndrome (deletion/duplication analysis on COLQ gene) + info
   
• Congenital myasthenic syndrome (deletion/duplication analysis on RAPSN) + info
   
• Congenital myasthenic syndrome (sequence analysis of COLQ gene) + info
   
• Congenital myasthenic syndrome type 1A | Congenital myasthenic syndrome type 1B | Multiple pterygium syndrome, lethal type (deletion/duplication analysis on CHRNA1 gene) + info
   
• Congenital thrombotic thrombocytopenic purpura (deletion/duplication analysis of ADAMTS13 gene) + info
   
• Coproporphyria (sequence analysis of CPOX gene) + info
   
• Cornelia de Lange syndrome (deletion/duplication analysis on NIPBL gene) + info
   
• Cornelia de Lange syndrome (NGS panel of 5 genes) + info
   
• Cornelia de Lange syndrome (sequence analysis of NIPBL gene) + info
   
• Cornelia de Lange syndrome 2 (deletion/duplication analysis on SMC1A gene) + info
   
• Cornelia de Lange syndrome 3 (deletion/duplication analysis on SMC3 gene) + info
   
• Cornélia de Lange syndrome 3 (sequence analysis of SMC3 gene) + info
   
• Cornelia de Lange syndrome 4 (sequence analysis of RAD21 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
• 78