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Browsing by Author Crow, Y.J.

Full Text	Issue Date	Title	Author(s)
	2011	Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency	Banka, S.; Blom, H.J.; Walter, J.; Aziz, M.; Urquhart, J., et al
	2010	A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutieres syndrome.	Haaxma, C.A.; Crow, Y.J.; Steensel, M.A.M. van; Lammens, M.M.Y.; Rice, G.I., et al
	2010	Expanding the clinical spectrum of SLC29A3 gene defects.	Spiegel, R.; Cliffe, S.T.; Buckley, M.F.; Crow, Y.J.; Urquhart, J., et al
	2008	tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.	Budde, B.S.; Namavar, Y.; Barth, P.G.; Poll-The, B.T.; Nurnberg, G., 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 gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutieres syndrome at the AGS1 locus.	Crow, Y.J.; Hayward, B.E.; Parmar, R.; Robins, P.; Leitch, A., et al
	2006	A second locus for Aicardi-Goutieres syndrome at chromosome 13q14-21.	Ali, M.; Highet, L.J.; Lacombe, D.; Goizet, C.; King, M., 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