Neurology / Neuropediatrics
-
Muscle-eye-brain disease (sequence analysis of POMGNT1 gene)
+ info
-
Muscular dystrophy type 1C, congenital (sequence analysis of FKRP gene)
+ info
-
Muscular dystrophy, congenital, due to ITGA7 deficiency (sequence analysis of ITGA7 gene)
+ info
-
Muscular dystrophy, congenital, megaconial type (sequence analysis of CHKB gene)
+ info
-
Muscular dystrophy, lamin/merosin deficiency (sequence analysis of LAMA2 gene)
+ info
-
Muscular dystrophy, limb-girdle (deletion/duplication analysis on ANO5 gene)
+ info
-
Muscular dystrophy, limb-girdle (sequence analysis of TNPO3 gene)
+ info
-
Muscular dystrophy, limb-girdle, autosomal recessive 12 | Miyoshi muscular dystrophy 3 | Gnathodiaphyseal dysplasia (LGMD2L, sequence analysis of ANO5 gene)
+ info
-
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 (sequence analysis of LARGE gene)
+ info
-
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9 (sequence analysis of DAG1 gene)
+ info
-
Muscular dystrophy-dystroglycanopathy, type C, 14 (sequence analysis of GMPPB gene)
+ info
-
Myasthenia congenital with tubular aggregates 1 (sequence analysis of GFPT1 gene)
+ info
-
Myasthenia, congenital (deletion/duplication analysis on DOK7 gene)
+ info
-
Myasthenia, congenital (sequence analysis of DOK7 gene)
+ info
-
Myasthenic congenital syndrome (sequence analysis of CHRNE gene)
+ info
-
Myasthenic syndrome associated with acetylcholine receptor deficiency (sequence analysis of MUSK gene)
+ info
-
Myasthenic syndrome fast channel congenital (NGS panel for 8 genes)
+ info
-
Myasthenic syndrome fast channel congenital (sequence analysis of CHRND gene)
+ info
-
Myasthenic syndrome, congenital (NGS panel for 17 genes)
+ info
-
Myasthenic syndrome, congenital (sequence analysis of CHAT gene)
+ info
