12TH COLLEGE OF PHARMACY RESEARCH DAY

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A Novel GEMIN4 Variant in a Consanguineous Family Leads to Neurodevelopmental Impairment with Severe Microcephaly, Spastic Quadriplegia, Epilepsy, and Cataracts.

A Novel GEMIN4 Variant in a Consanguineous Family Leads to Neurodevelopmental Impairment with Severe Microcephaly, Spastic Quadriplegia, Epilepsy, and Cataracts.

A Founder Variant in ZNF335 Causes a Novel Phenotype: Autosomal Recessive Distal Motor Neuropathy

A Founder Variant in ZNF335 Causes a Novel Phenotype: Autosomal Recessive Distal Motor Neuropathy