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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.

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.

Differences in the clinical spectrum of two adolescent male patients with Alström syndrome

Kuburovic, Vladimir; Marshall, Jan D.; Collin, Gayle B.; More

Clinical Dysmorphology. 22(1):7-12, January 2013.

Hypertrichosis, hyperkeratosis, abnormal corpus callosum, mental retardation and dysmorphic features in three unrelated females

Pöyhönen, Minna H.; Peippo, Maarit M.; Valanne, Leena K.; More

Clinical Dysmorphology. 13(2):85-90, April 2004.