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Amyotrophic lateral sclerosis 4, juvenile (sequence analysis of SETX gene)
+ info
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Amyotrophic lateral sclerosis 6 (sequence analysis of FUS gene)
+ info
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Amyotrophic lateral sclerosis 8 (sequence analysis of VAPB gene)
+ info
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Amyotrophic lateral sclerosis 9 (sequence analysis of ANG gene)
+ info
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Amyotrophic lateral sclerosis type 2, juvenile (sequence analysis of ALS2 gene)
+ info
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Amyotrophic lateral sclerosis, susceptibility to (sequence analysis of NEFH gene)
+ info
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Amyotrophic lateral sclerosis/motor neuron disease (NGS panel of 33 genes)
+ info
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Amyotrophy hereditary neuralgic (deletion/duplication on SEPT9 gene)
+ info
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Amyotrophy hereditary neuralgic (sequence analysis of SEPT9 gene)
+ info
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Analbuminemia | Familial dysalbuminemic hyperthyroxinemia (sequence analysis of ALB gene)
+ info
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Andersen-Tawil syndrome (deletion/duplication analysis on KCNJ2 gene)
+ info
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Andersen-Tawil syndrome (sequence analysis of KCNJ2 gene)
+ info
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Androgen insensitivity syndrome (deletion/duplication analysis on AR gene)
+ info
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Androgen insensitivity syndrome (sequence analysis of AR gene)
+ info
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ANE syndrome (sequence analysis of RBM28 gene)
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Anemia dyserythropoietic type 2 (sequence analysis of SEC23B gene)
+ info
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Anemia with or without neutropenia and/or platelet abnormalities (XLANP, sequence analysis of GATA1 gene)
+ info
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Anemia, hypochromic microcytic, with iron overload 2 (sequence analysis of STEAP3 gene)
+ info
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Angelman syndrome (deletion/duplication analysis on UBE3A gene)
+ info
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Angelman syndrome (sequence analysis of UBE3A gene)
+ info
