Neurology / Neuropediatrics
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Arthrogryposis, distal type 2B (sequence analysis of TNNI2 gene)
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Arthrogryposis, distal type 2B (sequence analysis of TNNT3 gene)
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Arthrogryposis, mental retardation and seizures (sequence analysis of SLC35A3 gene)
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Asparaginesynthetase deficiency (sequence analysis of ASNS gene)
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Aspartylglucosaminuria (deletion/duplication analysis on AGA gene)
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Asperger syndrome, X-linked (deletion/duplication analysis on NLGN4X gene)
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Asperger syndrome, X-linked 1 (sequence analysis of NLGN3 gene)
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Asperger syndrome, X-linked 2 (sequence analysis of NLGN4X gene)
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Ataxia telangiectasia (sequencing and CNV analyses of ATM gene)
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Ataxia telangiectasia like disorder (sequence analysis of MRE11A gene)
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Ataxia with isolated vitamin E deficiency (sequence analysis of TTPA gene)
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Ataxia with oculomotor apraxia (sequence analysis of APTX gene)
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Ataxia, posterior column, with retinitis pigmentosa (sequence analysis of FLVCR1 gene)
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Ataxia-ocular apraxia 2 (AOA2, sequence analysis of SETX gene)
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Ataxia-oculomotor apraxia type 3 (sequence analysis of PIK3R5 gene)
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Ataxia-oculomotor apraxia type 4 (sequence analysis of PNKP gene)
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Attention deficit-hyperactivity disorder (sequence analysis of DRD4 gene)
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Atypical Rett syndrome (sequence analysis of NTNG1 gene)
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Autism (WES based NGS panel of 156 genes, including CNV analysis)
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Autism susceptibility 17 (sequence analysis of SHANK2 gene)
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