Neurology / Neuropediatrics
-
Bainbridge-Ropers syndrome (sequence analysis of ASXL3 gene)
+ info
-
Band-like calcification with simplified gyration and polymicrogyria (sequence analysis of OCLN gene)
+ info
-
Basal ganglia calcification, idiopathic 1 (sequence anaysis of SLC20A2 gene)
+ info
-
Basal ganglia calcification, idiopathic 4 (sequence anaysis of PDGFRB gene)
+ info
-
Becker/Duchenne muscular dystrophy (DMD, deletion/duplication analysis on DMD gene)
+ info
-
Benign familial neonatal-infantile seizures-3 (sequence analysis of SCN2A gene)
+ info
-
Benign hereditary chorea | Choreoathetosis and congenital hypothyroidism | Thyroid cancer nonmedullary, susceptibility (deletion/duplication analysis on NKX2-1 gene)
+ info
-
Benign hereditary chorea | Choreoathetosis and congenital hypothyroidism | Thyroid cancer nonmedullary, susceptibility (sequence analysis of NKX2-1 gene)
+ info
-
Beta-ureidopropionase deficiency (deletion/duplication analysis on UPB1)
+ info
-
Bethlem myopathy (deletion/duplicaion analysis of COL6A1 gene)
+ info
-
Bethlem myopathy (deletion/duplication analysis of COL6A2 gene)
+ info
-
Bethlem myopathy (deletion/duplication analysis of COL6A3 gene)
+ info
-
Bethlem myopathy | Congenital muscular dystrophy, Ullrich type (deletion/duplication analysis of COL12A1 gene)
+ info
-
Biotin-responsive basal ganglia disease (deletion/duplication analysis of SLC19A3 gene)
+ info
-
Biotin-responsive basal ganglia disease (sequence analysis of SLC19A3 gene)
+ info
-
Biotinidase deficiency (deletion/duplication analysis of BTD gene)
+ info
-
Biotinidase deficiency (sequence analysis of BTD gene)
+ info
-
Blepharophimosis-ptosis-intellectual disability syndrome (sequence analysis of UBE3B gene)
+ info
-
Bloom syndrome (deletion/duplication analysis on BLM gene)
+ info
-
Bloom syndrome (sequence analysis of BLM gene)
+ info