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Phenotype of two Polish patients with Schaaf–Yang syndrome confirmed by identifying mutation in MAGEL2 gene

Matuszewska, Karolina E.; Badura-Stronka, Magdalena; Smigiel, Robert; More

Clinical Dysmorphology. 27(2):49-52, April 2018.

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.

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.

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.

Novel pathogenic variant in the HRAS gene with lethal outcome and a broad phenotypic spectrum among Polish patients with Costello syndrome

Pelc, Magdalena; Ciara, Elzbieta; Jezela-Stanek, Aleksandra; More

Clinical Dysmorphology. 26(2):83-90, April 2017.

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.