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Three new cases with a supernumerary ring chromosome 1

Rodríguez, Laura; Starke, Heike; Guardia, Nieves Martínez; More

Clinical Dysmorphology. 14(4):169-175, October 2005.

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.

Rubinstein–Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum

Hamilton, Mark J.; Newbury-Ecob, Ruth; Holder-Espinasse, Muriel; More

Clinical Dysmorphology. 25(4):135-145, October 2016.

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