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Browsing by Author Kouwenberg, D.

Full Text	Issue Date	Title	Author(s)
	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.; Haberle, J.; Morava, E.
	2011	Metabolic cutis laxa syndromes	Mohamed, M.; Kouwenberg, D.; Gardeitchik, T.; Kornak, U.; Wevers, R.A., et al
	2011	Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression	Achouitar, S.; Mohamed, M.; Gardeitchik, T.; Wortmann, S.B.; Sykut-Cegielska, J., et al
	2011	Clinical and diagnostic approach in unsolved CDG patients with a type 2 transferrin pattern	Mohamed, M.; Guillard, M.; Wortmann, S.B.; Cirak, S.; Marklova, E., et al