Worldwide Rare disases experts by disease
A curated directory of experts by rare disease, including their contact information, institution and country/location. Please enter a disease on the search field to search for experts in our knowledge base.
Experts by disease
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purine nucleoside phosphorylase deficiency expert list |
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severe combined immunodeficiency due to dclre1c deficiency expert list |
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susceptibility to respiratory infections associated with cd8alpha chain mutation expert list |
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autoimmune lymphoproliferative syndrome due to ctla4 haploinsuffiency expert list |
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autoimmune polyendocrinopathy type 2 expert list |
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simpson-golabi-behmel syndrome expert list |
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autoinflammatory syndrome expert list |
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autosomal dominant centronuclear myopathy expert list |
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autosomal dominant charcot-marie-tooth disease type 2m expert list |
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autosomal dominant intermediate charcot-marie-tooth disease type b expert list |
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fetal akinesia-cerebral and retinal hemorrhage syndrome expert list |
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infantile onset spinocerebellar ataxia expert list |
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autosomal dominant charcot-marie-tooth disease type 2a2 expert list |
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autosomal dominant charcot-marie-tooth disease type 2b expert list |
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autosomal dominant charcot-marie-tooth disease type 2k expert list |
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autosomal recessive intermediate charcot-marie-tooth disease type a expert list |
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charcot-marie-tooth disease type 4a expert list |
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autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures expert list |
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autosomal dominant epidermolytic ichthyosis expert list |
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epidermolysis bullosa simplex, autosomal recessive 1; ebsb1 expert list |
