Publications
Export 2 results:
Author Title [ Year
] Filters: Author is Hamosh, Ada and First Letter Of Title is P [Clear All Filters]
Pathogenic Variants in NUP214 Cause "Plugged" Nuclear Pore Channels and Acute Febrile Encephalopathy. Am J Hum Genet 105, 48-64 (2019).
PhenoDB: a new web-based tool for the collection, storage, and analysis of phenotypic features. Hum Mutat 34, 566-71 (2013).
