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Joseph Bursztyn

Necker-Enfants Malades Hospital

4

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Novel mutation in SLC9A6 gene in a patient with Christianson syndrome and retinitis pigmentosum

2013 Brain & Development
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MFN2, a new gene responsible for mitochondrial DNA depletion

2012 Brain
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Retinal involvement in two unrelated patients with Myhre syndrome.

2012 European Journal of Medical Genetics
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Déficits visuels : dépistage et prise en charge chez le jeune enfant

2002
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