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
   
• 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
   
• 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
   
• Body myopathy with Paget disease and frontotemporal dementia (deletion/duplication analysis of VCP gene) + info
   
• Body myopathy with Paget disease and frontotemporal dementia (sequence analysis of VCP gene) + info
   

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