Neurology / Neuropediatrics
-
Nemaline myopathy 2 (deletion/duplication analysis of NEB gene)
+ info
-
Nemaline myopathy 2 (sequence analysis of NEB gene)
+ info
-
Nemaline myopathy 4 (sequence analysis of TPM2 gene)
+ info
-
Nemaline myopathy 5 (sequence analysis of TNNT1 gene)
+ info
-
Nemaline myopathy 6 (sequence analysis of KBTBD13 gene)
+ info
-
Nemaline myopathy 7 (sequence analysis of CFL2 gene)
+ info
-
Nephronophthisis type 1 | Joubert syndrome type 4 | Senior-Loken Syndrome (sequence analysis of NPHP1 gene)
+ info
-
Nephropathy due to CFHR5 deficiency (sequence analysis of CFHR5 gene)
+ info
-
Neuroacanthocytosis (sequence analysis of VPS13A gene)
+ info
-
Neuroacanthocytosis, Mcleod type (sequence analysis of XK gene)
+ info
-
Neuroblastoma (sequence analysis of ALK gene)
+ info
-
Neuroblastoma (sequence analysis of NME1 gene)
+ info
-
Neurodegeneration due to cerebral folate transport deficiency (sequence analysis of FOLR1 gene)
+ info
-
Neurodegeneration with brain iron accumulation (deletion/duplication analysis on PANK2 and PLA2G6 genes)
+ info
-
Neurodegeneration with brain iron accumulation (NGS panel for 8 genes)
+ info
-
Neurodegeneration with brain iron accumulation 1 (NBIA1, sequence analysis of PANK2 gene)
+ info
-
Neurodegeneration with brain iron accumulation 4 (sequence analysis of C19ORF12 gene)
+ info
-
Neurodegeneration with brain iron accumulation 5 (sequence analysis of WDR45 gene)
+ info
-
Neurodegeneration with brain iron accumulation type 2B | Parkinson disease type 14 | Infantile neuroaxonal dystrophy type 1 (sequence analysis of PLA2G6 gene)
+ info
-
Neurodegeneration with brain iron accumulation | Hyperferritinemia with or without cataract | L-ferritin deficiency (sequence analysis of FTL 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