Neurology / Neuropediatrics
-
Molybdenum cofactor deficiency C (sequence analysis of GPHN gene)
+ info
-
Movement diseases (WES based NGS panel for 905 genes, including CNV analysis)
+ info
-
Mowat-Wilson syndrome (sequence analysis of ZEB2 gene)
+ info
-
Moyamoya disease (deletion/duplication analysis on RNF213 gene)
+ info
-
Moyamoya disease (NGS panel of 3 genes)
+ info
-
Moyamoya disease (sequence analysis of CCER2 gene)
+ info
-
Moyamoya disease (sequence analysis of RNF213 gene)
+ info
-
Moyamoya disease 5 (sequence analysis of ACTA2 gene)
+ info
-
Moyamoya disease 6 with achalasia (sequence analysis of GUCY1A3 gene)
+ info
-
Mucolipidosis type III gamma (sequence analysis of GNPTG gene)
+ info
-
Mucolipidosis type IV (sequence analysis of MCOLN1 gene)
+ info
-
Mucopolysaccharidosis type 3B | Charcot-Marie-Tooth disease type 2V (deletion/duplication analysis of NAGLU gene)
+ info
-
Mucopolysaccharidosis type 3B | Charcot-Marie-Tooth disease type 2V (sequence analysis of NAGLU gene)
+ info
-
Mucopolysaccharidosis type Ih (deletion/duplication analysis of IDUA gene)
+ info
-
Mucopolysaccharidosis type IIIA (Sanfilippo A, sequence analysis of SGSH gene)
+ info
-
Mucopolysaccharidosis type IIID (sequence analysis of GNS gene)
+ info
-
Mucopolysaccharidosis type VII (deletion/duplication analysis of GUSB gene)
+ info
-
Muenke syndrome (Pro250Arg mutation on FGFR3 gene)
+ info
-
Mulibrey nanism (sequence analysis of TRIM37 gene)
+ info
-
Multiple congenital anomalies-hypotonia-seizures syndrome 1 (deletion/duplication analysis on PIGN 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