Publications
Export 2 results:
Author Title [ Year
] Filters: Author is Carvalho, Claudia M B and Keyword is DNA Mutational Analysis [Clear All Filters]
Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome. BMC Med Genet 15, 64 (2014).
ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry. Am J Hum Genet 93, 357-67 (2013).
