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	1.	The prenatal diagnosis of congenital disorders of glycosylation (CDG). [electronic resource] by Matthijs, Gert Schollen, Els Van Schaftingen, Emile Producer: 20040617 In: Prenatal diagnosis vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Screening for OST deficiencies in unsolved CDG-I patients. [electronic resource] by Vleugels, Wendy Schollen, Els Foulquier, François Matthijs, Gert Producer: 20091229 In: Biochemical and biophysical research communications vol. 390 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	DHPLC analysis as a platform for molecular diagnosis of congenital disorders of glycosylation (CDG). [electronic resource] by Schollen, Els Martens, Kevin Geuzens, Elke Matthijs, Gert Producer: 20030317 In: European journal of human genetics : EJHG vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	PTPN11 mutation in a large family with Noonan syndrome and dizygous twinning. [electronic resource] by Schollen, Els Matthijs, Gert Gewillig, Marc Fryns, Jean-Pierre Legius, Eric Producer: 20030826 In: European journal of human genetics : EJHG vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Increased fucosylation and reduced branching of serum glycoprotein N-glycans in all known subtypes of congenital disorder of glycosylation I. [electronic resource] by Callewaert, Nico Schollen, Els Vanhecke, Annelies Jaeken, Jaak Matthijs, Gert Contreras, Roland Producer: 20040824 In: Glycobiology vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency. [electronic resource] by Westphal, Vibeke Kjaergaard, Susanne Schollen, Els Martens, Kevin Grunewald, Stephanie Schwartz, Marianne Matthijs, Gert Freeze, Hudson H Producer: 20020909 In: Human molecular genetics vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients. [electronic resource] by Schollen, Els Keldermans, Liesbeth Foulquier, François Briones, Paz Chabas, Amparo Sánchez-Valverde, Félix Adamowicz, Maciej Pronicka, Ewa Wevers, Ron Matthijs, Gert Producer: 20071206 In: Molecular genetics and metabolism vol. 90 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Deficiency of the first mannosylation step in the N-glycosylation pathway causes congenital disorder of glycosylation type Ik. [electronic resource] by Grubenmann, Claudia E Frank, Christian G Hülsmeier, Andreas J Schollen, Els Matthijs, Gert Mayatepek, Ertan Berger, Eric G Aebi, Markus Hennet, Thierry Producer: 20041207 In: Human molecular genetics vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type II. [electronic resource] by Foulquier, François Vasile, Eliza Schollen, Els Callewaert, Nico Raemaekers, Tim Quelhas, Dulce Jaeken, Jaak Mills, Philippa Winchester, Bryan Krieger, Monty Annaert, Wim Matthijs, Gert Producer: 20060417 In: Proceedings of the National Academy of Sciences of the United States of America vol. 103 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Diagnostic DHPLC Quality Assurance (DDQA): a collaborative approach to the generation of validated and standardized methods for DHPLC-based mutation screening in clinical genetics laboratories. [electronic resource] by Schollen, Els Dequeker, Elisabeth McQuaid, Shirley Vankeirsbilck, Bruno Michils, Geneviève Harvey, John van den Akker, Eric van Schooten, Ron Clark, Zandra Schrooten, Stephan Matthijs, Gert Producer: 20061215 In: Human mutation vol. 25 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	CDG-IL: an infant with a novel mutation in the ALG9 gene and additional phenotypic features. [electronic resource] by Weinstein, Michael Schollen, Els Matthijs, Gert Neupert, Christine Hennet, Thierry Grubenmann, Claudia E Frank, Christian G Aebi, Markus Clarke, Joe T R Griffiths, Anne Seargeant, Lorne Poplawski, Nicola Producer: 20050914 In: American journal of medical genetics. Part A vol. 136 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Late-Onset visceral presentation with cardiomyopathy and without neurological symptoms of adult Sanfilippo A syndrome. [electronic resource] by Van Hove, Johan L K Wevers, Ron A Van Cleemput, Johan Moerman, Philippe Sciot, Raf Matthijs, Gert Schollen, Els de Jong, Jan G N Carey, William F Muller, Viv Nicholls, Cath Perkins, Kelly Hopwood, John J Producer: 20031128 In: American journal of medical genetics. Part A vol. 118A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	Detailed glycan analysis of serum glycoproteins of patients with congenital disorders of glycosylation indicates the specific defective glycan processing step and provides an insight into pathogenesis. [electronic resource] by Butler, Michael Quelhas, D Critchley, Alison J Carchon, Hubert Hebestreit, Holger F Hibbert, Richard G Vilarinho, Laura Teles, E Matthijs, Gert Schollen, Els Argibay, Pablo Harvey, David J Dwek, Raymond A Jaeken, Jaak Rudd, Pauline M Producer: 20040514 In: Glycobiology vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	TMEM165 deficiency causes a congenital disorder of glycosylation. [electronic resource] by Foulquier, François Amyere, Mustapha Jaeken, Jaak Zeevaert, Renate Schollen, Els Race, Valérie Bammens, Riet Morelle, Willy Rosnoblet, Claire Legrand, Dominique Demaegd, Didier Buist, Neil Cheillan, David Guffon, Nathalie Morsomme, Pierre Annaert, Willem Freeze, Hudson H Van Schaftingen, Emile Vikkula, Miikka Matthijs, Gert Producer: 20120920 In: American journal of human genetics vol. 91 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)