DSpace at RU >

Browsing by Author Al-Gazali, L.

Full Text	Issue Date	Title	Author(s)
	2011	Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice	Rainger, J.; Beusekom, E. van; Ramsay, J.K.; McKie, L.; Al-Gazali, L., et al
	2011	Normal glycosylation screening does not rule out SRD5A3-CDG	Mohamed, M.; Cantagrel, V.; Al-Gazali, L.; Wevers, R.A.; Lefeber, D.J., et al
	2010	A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism.	Morava, E.; Wevers, R.A.; Cantagrel, V.; Hoefsloot, L.H.; Al-Gazali, L., et al
	2010	SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder.	Cantagrel, V.; Lefeber, D.J.; Ng, B.G.; Guan, Z.; Silhavy, J.L., et al
	2008	Mutations in the pericentrin (PCNT) gene cause primordial dwarfism.	Rauch, A.; Thiel, C.T.; Schindler, D.; Wick, U.; Crow, Y.J., et al
	2006	Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome.	Morgan, N.V.; Brueton, L.; Cox, P.; Greally, M.T.; Tolmie, J., et al
	2005	Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers-Danlos syndrome (EDS VIA).	Giunta, C.; Randolph, A.; Al-Gazali, L.; Brunner, H.G.; Kraenzlin, M.E., et al
	2004	Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux.	Bartels, C.F.; Bukulmez, H.; Padayatti, P.; Rhee, D.K.; Ravenswaaij-Arts, C.M.A. van, et al