Publications
Export 2 results:
Author Title [ Year
] Filters: Author is Schoch, Kelly and Keyword is Phenotype [Clear All Filters]
A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay. Am J Hum Genet 100, 343-351 (2017).
Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network. Mol Genet Genomic Med 8, e1397 (2020).
