Atypical presentation and a novel mutation in ALMS1: implications for clinical and molecular diagnostic strategies for Alstrom syndrome


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Tasdemir S., Guzel-Ozanturk A., Marshall J. D., Collin G. B., ÖZGÜL R. K., Narin N., ...Daha Fazla

CLINICAL GENETICS, cilt.83, sa.1, ss.96-98, 2013 (SCI-Expanded) identifier identifier identifier