Publications
Export 3 results:
Author [ Title] Year Filters: Author is Lalani, Seema R and Keyword is Amino Acid Sequence [Clear All Filters]
De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. Am J Hum Genet 97, 904-13 (2015).
MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death. Genome Med 8, 106 (2016).
Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. Am J Hum Genet 95, 579-83 (2014).