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