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Browsing by Author Bijlsma, E.K.

Full Text	Issue Date	Title	Author(s)
	2010	The Clinical Spectrum of Missense Mutations of the First Aspartic Acid of cbEGF-like Domains in Fibrillin-1, Including a Recessive Family.	Hilhorst-Hofstee, Y.; Rijlaarsdam, M.E.; Scholte, A.J.H.A.; Swart-van den Berg, M.; Versteegh, M.I., et al
	2009	CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila.	Zweier, C.; Jong, E.K. de; Zweier, M.; Orrico, A.; Ousager, L.B., et al
	2009	Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individuals.	Bijlsma, E.K.; Gijsbers, A.C.; Schuurs-Hoeijmakers, J.H.M.; Haeringen, A. van; Fransen van de Putte, D.E., et al
	2008	Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients.	Zweier, C.; Sticht, H.; Bijlsma, E.K.; Clayton-Smith, J.; Boonen, S., et al
	2006	Lysosomal storage diseases in non-immune hydrops fetalis pregnancies.	Kooper, A.J.A.; Janssens, P.M.W.; Groot, A.N.J.A. de; Liebrand-van Sambeek, M.L.F.; Berg, C.J.M.G. van den, et al
	2005	Increased nuchal translucency thickness: a marker for chromosomal and genetic disorders in both offspring and parents.	Huizen, M.E. van; Pighetti, M.; Bijlsma, E.K.; Knegt, A.C.; Bilardo, C.M.