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Browsing by Author Gardeitchik, T.

Full Text	Issue Date	Title	Author(s)
	2012	Infant with MCA and severe cutis laxa due to a de novo duplication 11p of paternal origin.	Gardeitchik, T.; Leeuw, N. de; Nijtmans, L.G., et al
	2011	Metabolic cutis laxa syndromes	Mohamed, M.; Kouwenberg, D.; Gardeitchik, T., et al
	2012	Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.	Wortmann, S.B.; Vaz, F.M.; Gardeitchik, T., et al
	2011	Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression	Achouitar, S.; Mohamed, M.; Gardeitchik, T., et al
	2011	Recognizable phenotype with common occurrence of microcephaly, psychomotor retardation, but no spontaneous bone fractures in autosomal recessive cutis laxa type IIB due to PYCR1 mutations	Kouwenberg, D.; Gardeitchik, T.; Wevers, R.A., et al