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Browsing by Author Mancini, G.M.

Full Text	Issue Date	Title	Author(s)
	2008	Clinical and molecular delineation of the 17q21.31 microdeletion syndrome.	Koolen, D.A.; Sharp, A.J.; Hurst, J.A., et al
	2011	The clinical spectrum of complete FBN1 allele deletions.	Hilhorst-Hofstee, Y.; Hamel, B.C.J.; Verheij, J.B.G.M., et al
	2008	Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency.	Betsalel, O.T.; Kamp, JM van de; Martinez-Munoz, C., et al
	2011	Microcephaly with simplified gyration, epilepsy, and infantile diabetes linked to inappropriate apoptosis of neural progenitors	Poulton, C.J.; Schot, R.; Kia, S.K., et al
	2010	Mutations in the nuclear localization sequence of the Aristaless related homeobox; sequestration of mutant ARX with IPO13 disrupts normal subcellular distribution of the transcription factor and retards cell division.	Shoubridge, C.; Tan, M.H.; Fullston, T., et al
	2004	Three new families with arterial tortuosity syndrome.	Wessels, M.W.; Catsman-Berrevoets, C.E.; Mancini, G.M., et al