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Home > Our Research Activities > List Of Publications > Developmental and epileptic encephalopathy due to SZT2 genomic variants: Emerging features of a syndromic condition

Developmental and epileptic encephalopathy due to SZT2 genomic variants: Emerging features of a syndromic condition

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The Safety and Efficacy of Live Viral Vaccines in Patients With Cartilage-Hair Hypoplasia

Description of a family with X-linked oculo-auriculo-vertebral spectrum associated with polyalanine tract expansion in ZIC3

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