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Browsing by Author Mancini, G.M.

Full Text	Issue Date	Title	Author(s)
	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
	2012	Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of alpha-dystroglycan	Roscioli, T.; Kamsteeg, E.J.; Buysse, 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
	2012	De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome	Riviere, J.B.; Bon, B.W. van; Hoischen, A., et al
	2004	Three new families with arterial tortuosity syndrome.	Wessels, M.W.; Catsman-Berrevoets, C.E.; Mancini, G.M., et al