Neurology / Neuropediatrics
-
Klippel-Feil syndrome (sequence analysis of the PAX1 gene)
+ info
-
Klippel-Feil syndrome 1 (sequence analysis of GDF6 gene)
+ info
-
Klippel-Feil syndrome 2 (sequence analysis of MEOX1 gene)
+ info
-
Klippel-Feil syndrome type 3, AD (sequence analysis of GDF3 gene)
+ info
-
Kohlschutter Tonz syndrome (sequence analysis of ROGDI gene)
+ info
-
Koolen-De Vries syndrome (detection of 17q21.31 region deletion by MLPA)
+ info
-
Koolen-De Vries syndrome (sequence analysis of KANSL1 gene)
+ info
-
Krabbe disease (deletion/duplication analysis on GALC gene)
+ info
-
Krabbe disease (sequence analysis of GALC gene)
+ info
-
L-2-hydroxyglutaric aciduria (sequence analysis of L2HGDH gene)
+ info
-
Lacticacidemia due to PDX1 deficiency (sequence analysis of PDHX gene)
+ info
-
Late-onset alzheimer disease susceptibility (sequence analysis of NOS3 gene)
+ info
-
Legius syndrome (deletion/duplication analysis of SPRED1 gene)
+ info
-
Legius syndrome (sequence analysis of SPRED1 gene)
+ info
-
Leigh syndrome (m.8993T>G and m.8993T>C mutation on MT-ATP6 gene)
+ info
-
Leigh syndrome (NGS panel for 11 genes)
+ info
-
Leigh syndrome (sequence analysis of COX15 gene)
+ info
-
Leigh syndrome (sequence analysis of FOXRED1 gene)
+ info
-
Leigh syndrome (sequence analysis of MTND3 gene)
+ info
-
Leigh syndrome (sequence analysis of NDUFA10 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