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	101.	DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy. [electronic resource] by Barone, Rita Aiello, Chiara Race, Valérie Morava, Eva Foulquier, Francois Riemersma, Moniek Passarelli, Chiara Concolino, Daniela Carella, Massimo Santorelli, Filippo Vleugels, Wendy Mercuri, Eugenio Garozzo, Domenico Sturiale, Luisa Messina, Sonia Jaeken, Jaak Fiumara, Agata Wevers, Ron A Bertini, Enrico Matthijs, Gert Lefeber, Dirk J Producer: 20130103 In: Annals of neurology vol. 72 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	102.	Clinical utility of chitotriosidase enzyme activity in nephropathic cystinosis. [electronic resource] by Elmonem, Mohamed A Makar, Samuel H van den Heuvel, Lambertus Abdelaziz, Hanan Abdelrahman, Safaa M Bossuyt, Xavier Janssen, Mirian C Cornelissen, Elisabeth Am Lefeber, Dirk J Joosten, Leo Ab Nabhan, Marwa M Arcolino, Fanny O Hassan, Fayza A Gaide Chevronnay, Héloïse P Soliman, Neveen A Levtchenko, Elena Producer: 20160209 In: Orphanet journal of rare diseases vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	103.	A novel type of macrothrombocytopenia associated with a defect in α2,3-sialylation. [electronic resource] by Jones, Claire Denecke, Jonas Sträter, Ronald Stölting, Torsten Schunicht, Yvonne Zeuschner, Dagmar Klumperman, Judith Lefeber, Dirk J Spelten, Oliver Zarbock, Alexander Kelm, Sørge Strenge, Karen Haslam, Stuart M Lühn, Kerstin Stahl, Dorothea Gentile, Luca Schreiter, Thomas Hilgard, Philip Beck-Sickinger, Annette G Marquardt, Thorsten Wild, Martin K Producer: 20120123 In: The American journal of pathology vol. 179 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	104.	Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing. [electronic resource] by Timal, Sharita Hoischen, Alexander Lehle, Ludwig Adamowicz, Maciej Huijben, Karin Sykut-Cegielska, Jolanta Paprocka, Justyna Jamroz, Ewa van Spronsen, Francjan J Körner, Christian Gilissen, Christian Rodenburg, Richard J Eidhof, Ilse Van den Heuvel, Lambert Thiel, Christian Wevers, Ron A Morava, Eva Veltman, Joris Lefeber, Dirk J Producer: 20130314 In: Human molecular genetics vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	105.	Human ISPD Is a Cytidyltransferase Required for Dystroglycan O-Mannosylation. [electronic resource] by Riemersma, Moniek Froese, D Sean van Tol, Walinka Engelke, Udo F Kopec, Jolanta van Scherpenzeel, Monique Ashikov, Angel Krojer, Tobias von Delft, Frank Tessari, Marco Buczkowska, Anna Swiezewska, Ewa Jae, Lucas T Brummelkamp, Thijn R Manya, Hiroshi Endo, Tamao van Bokhoven, Hans Yue, Wyatt W Lefeber, Dirk J Producer: 20160726 In: Chemistry & biology vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	106.	Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT). [electronic resource] by Haer-Wigman, Lonneke Newman, Hadas Leibu, Rina Bax, Nathalie M Baris, Hagit N Rizel, Leah Banin, Eyal Massarweh, Amir Roosing, Susanne Lefeber, Dirk J Zonneveld-Vrieling, Marijke N Isakov, Ofer Shomron, Noam Sharon, Dror Den Hollander, Anneke I Hoyng, Carel B Cremers, Frans P M Ben-Yosef, Tamar Producer: 20160428 In: Human molecular genetics vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	107.	Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa. [electronic resource] by Gardeitchik, Thatjana Mohamed, Miski Fischer, Björn Lammens, Martin Lefeber, Dirk Lace, Baiba Parker, Michael Kim, Ki-Joong Lim, Bing C Häberle, Johannes Garavelli, Livia Jagadeesh, Sujatha Kariminejad, Ariana Guerra, Deanna Leão, Michel Keski-Filppula, Riikka Brunner, Han Nijtmans, Leo van den Heuvel, Bert Wevers, Ron Kornak, Uwe Morava, Eva Producer: 20150212 In: European journal of human genetics : EJHG vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	108.	Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease). [electronic resource] by Sun, Yu Almomani, Rowida Breedveld, Guido J Santen, Gijs W E Aten, Emmelien Lefeber, Dirk J Hoff, Jorrit I Brusse, Esther Verheijen, Frans W Verdijk, Rob M Kriek, Marjolein Oostra, Ben Breuning, Martijn H Losekoot, Monique den Dunnen, Johan T van de Warrenburg, Bart P Maat-Kievit, Anneke J A Producer: 20130930 In: Human mutation vol. 34 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	109.	Autosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous family. [electronic resource] by Morava, Eva Kühnisch, Jirko Drijvers, Jefte M Robben, Joris H Cremers, Cor van Setten, Petra Branten, Amanda Stumpp, Sabine de Jong, Alphons Voesenek, Krysta Vermeer, Sascha Heister, Angelien Claahsen-van der Grinten, Hedi L O'Neill, Charles W Willemsen, Michèl A Lefeber, Dirk Deen, Peter M T Kornak, Uwe Kremer, Hannie Wevers, Ron A Producer: 20110204 In: The Journal of clinical endocrinology and metabolism vol. 96 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	110.	B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype-phenotype associations in the muscular dystrophy-dystroglycanopathies. [electronic resource] by Maroofian, Reza Riemersma, Moniek Jae, Lucas T Zhianabed, Narges Willemsen, Marjolein H Wissink-Lindhout, Willemijn M Willemsen, Michèl A de Brouwer, Arjan P M Mehrjardi, Mohammad Yahya Vahidi Ashrafi, Mahmoud Reza Kusters, Benno Kleefstra, Tjitske Jamshidi, Yalda Nasseri, Mojila Pfundt, Rolph Brummelkamp, Thijn R Abbaszadegan, Mohammad Reza Lefeber, Dirk J van Bokhoven, Hans Producer: 20181108 In: Genome medicine vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	111.	Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies. [electronic resource] by Lefeber, Dirk J Schönberger, Johannes Morava, Eva Guillard, Mailys Huyben, Karin M Verrijp, Kiek Grafakou, Olga Evangeliou, Athanasios Preijers, Frank W Manta, Panagiota Yildiz, Jef Grünewald, Stephanie Spilioti, Martha van den Elzen, Christa Klein, Dominique Hess, Daniel Ashida, Hisashi Hofsteenge, Jan Maeda, Yusuke van den Heuvel, Lambert Lammens, Martin Lehle, Ludwig Wevers, Ron A Producer: 20090715 In: American journal of human genetics vol. 85 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	112.	Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency. [electronic resource] by Wong, Sunnie Yan-Wai Beamer, Lesa J Gadomski, Therese Honzik, Tomas Mohamed, Miski Wortmann, Saskia B Brocke Holmefjord, Katja S Mork, Marit Bowling, Francis Sykut-Cegielska, Jolanta Koch, Dieter Ackermann, Amanda Stanley, Charles A Rymen, Daisy Zeharia, Avraham Al-Sayed, Moeen Marquardt, Thomas Jaeken, Jaak Lefeber, Dirk Conrad, Donald F Kozicz, Tamas Morava, Eva Producer: 20170609 In: The Journal of pediatrics vol. 175 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	113.	Biallelic variants in WARS2 encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy. [electronic resource] by Wortmann, Saskia B Timal, Sharita Venselaar, Hanka Wintjes, Liesbeth T Kopajtich, Robert Feichtinger, René G Onnekink, Carla Mühlmeister, Mareike Brandt, Ulrich Smeitink, Jan A Veltman, Joris A Sperl, Wolfgang Lefeber, Dirk Pruijn, Ger Stojanovic, Vesna Freisinger, Peter V Spronsen, Francjan Derks, Terry Gj Veenstra-Knol, Hermine E Mayr, Johannes A Rötig, Agnes Tarnopolsky, Mark Prokisch, Holger Rodenburg, Richard J Producer: 20180618 In: Human mutation vol. 38 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	114.	Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation. [electronic resource] by Lefeber, Dirk J de Brouwer, Arjan P M Morava, Eva Riemersma, Moniek Schuurs-Hoeijmakers, Janneke H M Absmanner, Birgit Verrijp, Kiek van den Akker, Willem M R Huijben, Karin Steenbergen, Gerry van Reeuwijk, Jeroen Jozwiak, Adam Zucker, Nili Lorber, Avraham Lammens, Martin Knopf, Carlos van Bokhoven, Hans Grünewald, Stephanie Lehle, Ludwig Kapusta, Livia Mandel, Hanna Wevers, Ron A Producer: 20120321 In: PLoS genetics vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	115.	Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival. [electronic resource] by Hucthagowder, Vishwanathan Morava, Eva Kornak, Uwe Lefeber, Dirk J Fischer, Björn Dimopoulou, Aikaterini Aldinger, Annika Choi, Jiwon Davis, Elaine C Abuelo, Dianne N Adamowicz, Maciej Al-Aama, Jumana Basel-Vanagaite, Lina Fernandez, Bridget Greally, Marie T Gillessen-Kaesbach, Gabriele Kayserili, Hulya Lemyre, Emmanuelle Tekin, Mustafa Türkmen, Seval Tuysuz, Beyhan Yüksel-Konuk, Berrin Mundlos, Stefan Van Maldergem, Lionel Wevers, Ron A Urban, Zsolt Producer: 20090708 In: Human molecular genetics vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	116.	Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa. [electronic resource] by Bandah-Rozenfeld, Dikla Collin, Rob W J Banin, Eyal van den Born, L Ingeborgh Coene, Karlien L M Siemiatkowska, Anna M Zelinger, Lina Khan, Muhammad I Lefeber, Dirk J Erdinest, Inbar Testa, Francesco Simonelli, Francesca Voesenek, Krysta Blokland, Ellen A W Strom, Tim M Klaver, Caroline C W Qamar, Raheel Banfi, Sandro Cremers, Frans P M Sharon, Dror den Hollander, Anneke I Producer: 20100901 In: American journal of human genetics vol. 87 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	117.	SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder. [electronic resource] by Cantagrel, Vincent Lefeber, Dirk J Ng, Bobby G Guan, Ziqiang Silhavy, Jennifer L Bielas, Stephanie L Lehle, Ludwig Hombauer, Hans Adamowicz, Maciej Swiezewska, Ewa De Brouwer, Arjan P Blümel, Peter Sykut-Cegielska, Jolanta Houliston, Scott Swistun, Dominika Ali, Bassam R Dobyns, William B Babovic-Vuksanovic, Dusica van Bokhoven, Hans Wevers, Ron A Raetz, Christian R H Freeze, Hudson H Morava, Eva Al-Gazali, Lihadh Gleeson, Joseph G Producer: 20100816 In: Cell vol. 142 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	118.	Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency. [electronic resource] by Van Scherpenzeel, Monique Timal, Sharita Rymen, Daisy Hoischen, Alexander Wuhrer, Manfred Hipgrave-Ederveen, Agnes Grunewald, Stephanie Peanne, Romain Saada, Ann Edvardson, Shimon Grønborg, Sabine Ruijter, George Kattentidt-Mouravieva, Anna Brum, Jaime Moritz Freckmann, Mary-Louise Tomkins, Susan Jalan, Anil Prochazkova, Dagmar Ondruskova, Nina Hansikova, Hana Willemsen, Michel A Hensbergen, Paul J Matthijs, Gert Wevers, Ron A Veltman, Joris A Morava, Eva Lefeber, Dirk J Producer: 20140521 In: Brain : a journal of neurology vol. 137 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	119.	Oral D-galactose supplementation in PGM1-CDG. [electronic resource] by Wong, Sunnie Yan-Wai Gadomski, Therese van Scherpenzeel, Monique Honzik, Tomas Hansikova, Hana Holmefjord, Katja S Brocke Mork, Marit Bowling, Francis Sykut-Cegielska, Jolanta Koch, Dieter Hertecant, Jozef Preston, Graeme Jaeken, Jaak Peeters, Nicole Perez, Stefanie Nguyen, David Do Crivelly, Kea Emmerzaal, Tim Gibson, K Michael Raymond, Kimiyo Abu Bakar, Nurulamin Foulquier, Francois Poschet, Gernot Ackermann, Amanda M He, Miao Lefeber, Dirk J Thiel, Christian Kozicz, Tamas Morava, Eva Producer: 20180608 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	120.	TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation. [electronic resource] by Jansen, Jos C Timal, Sharita van Scherpenzeel, Monique Michelakakis, Helen Vicogne, Dorothée Ashikov, Angel Moraitou, Marina Hoischen, Alexander Huijben, Karin Steenbergen, Gerry van den Boogert, Marjolein A W Porta, Francesco Calvo, Pier Luigi Mavrikou, Mersyni Cenacchi, Giovanna van den Bogaart, Geert Salomon, Jody Holleboom, Adriaan G Rodenburg, Richard J Drenth, Joost P H Huynen, Martijn A Wevers, Ron A Morava, Eva Foulquier, François Veltman, Joris A Lefeber, Dirk J Producer: 20160622 In: American journal of human genetics vol. 98 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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Your search returned 134 results.