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	1.	A severe human metabolic disease caused by deficiency of the endoplasmatic mannosyltransferase hALG11 leads to congenital disorder of glycosylation-Ip. [electronic resource] by Rind, Nina Schmeiser, Verena Thiel, Christian Absmanner, Birgit Lübbehusen, Jürgen Hocks, Julia Apeshiotis, Neophytos Wilichowski, Ekkehard Lehle, Ludwig Körner, Christian Producer: 20100917 In: Human molecular genetics vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Improved diagnostics lead to identification of three new patients with congenital disorder of glycosylation-Ip. [electronic resource] by Thiel, Christian Rind, Nina Popovici, Diana Hoffmann, Georg F Hanson, Kristen Conway, Robert L Adamski, Craig R Butler, Elizabeth Scanlon, Rhonda Lambert, Marie Apeshiotis, Neophytos Thiels, Charlotte Matthijs, Gert Körner, Christian Producer: 20120608 In: Human mutation vol. 33 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Phenotypic spectrum associated with CASK loss-of-function mutations. [electronic resource] by Moog, Ute Kutsche, Kerstin Kortüm, Fanny Chilian, Bettina Bierhals, Tatjana Apeshiotis, Neophytos Balg, Stefanie Chassaing, Nicolas Coubes, Christine Das, Soma Engels, Hartmut Van Esch, Hilde Grasshoff, Ute Heise, Marisol Isidor, Bertrand Jarvis, Joanna Koehler, Udo Martin, Thomas Oehl-Jaschkowitz, Barbara Ortibus, Els Pilz, Daniela T Prabhakar, Prab Rappold, Gudrun Rau, Isabella Rettenberger, Günther Schlüter, Gregor Scott, Richard H Shoukier, Moonef Wohlleber, Eva Zirn, Birgit Dobyns, William B Uyanik, Gökhan Producer: 20120210 In: Journal of medical genetics vol. 48 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)