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Filters: Keyword is Male and Author is Pfundt, Rolph [Clear All Filters]
Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies. Am J Hum Genet. 2017 ;100(4):592-604..
NR2F1 mutations cause optic atrophy with intellectual disability. Am J Hum Genet. 2014 ;94(2):303-9..
Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders. Am J Hum Genet. 2014 ;95(2):173-82..