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	1.	Creatine Deficiency Syndrome could be Missed Easily: A Case Report of Guanidinoacetate Methyltransferase Deficiency Presented with Neurodevelopmental Delay, Seizures, and Behavioral Changes, but Normal Structural MRI. [electronic resource] by Pacheva, Iliyana Ivanov, Ivan Penkov, Marin Kancheva, Daliya Jordanova, Albena Ivanova, Mariya Producer: 20170113 In: Annals of clinical and laboratory science vol. 46 Availability: No items available. Save to lists Add to cart (remove)
	2.	Novel mutations in genes causing hereditary spastic paraplegia and Charcot-Marie-Tooth neuropathy identified by an optimized protocol for homozygosity mapping based on whole-exome sequencing. [electronic resource] by Kancheva, Daliya Atkinson, Derek De Rijk, Peter Zimon, Magdalena Chamova, Teodora Mitev, Vanyo Yaramis, Ahmet Maria Fabrizi, Gian Topaloglu, Haluk Tournev, Ivailo Parman, Yesim Parma, Yesim Battaloglu, Esra Estrada-Cuzcano, Alejandro Jordanova, Albena Producer: 20171211 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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