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