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Home > Our Research Activities > List Of Publications > Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials

Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials

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Dopachrome tautomerase variants in patients with oculocutaneous albinism

A recurrent missense variant in EYA3 gene is associated with oculo-auriculo-vertebral spectrum

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