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January 2019 - Volume 28 - Issue 1
pp: 1-56

Does the clinical phenotype of mucolipidosis-IIIγ differ from its αβ counterpart?: supporting facts in a cohort of 18 patients

Nampoothiri, Sheela; Elcioglu, Nursel H.; Koca, Suleyman S.; More

Clinical Dysmorphology. 28(1):7-16, January 2019.

A mitochondrial neurogastrointestinal encephalomyopathy with intestinal pseudo-obstruction resulted from a novel splice site mutation

Erdogan, Mehmet A.; Seckin, Yuksel; Harputluoglu, Muhsin M.; More

Clinical Dysmorphology. 28(1):22-25, January 2019.