Your search returned 171 results.

Results
	141.	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)
	142.	beta-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities. [electronic resource] by van Kuilenburg, André B P Meinsma, Rutger Beke, Eva Assmann, Birgit Ribes, Antonia Lorente, Isabel Busch, Rebekka Mayatepek, Ertan Abeling, Nico G G M van Cruchten, Arno Stroomer, Alida E M van Lenthe, Henk Zoetekouw, Lida Kulik, Willem Hoffmann, Georg F Voit, Thomas Wevers, Ron A Rutsch, Frank van Gennip, Albert H Producer: 20060112 In: Human molecular genetics vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	143.	Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency. [electronic resource] by Banka, Siddharth Blom, Henk J Walter, John Aziz, Majid Urquhart, Jill Clouthier, Christopher M Rice, Gillian I de Brouwer, Arjan P M Hilton, Emma Vassallo, Grace Will, Andrew Smith, Desirée E C Smulders, Yvo M Wevers, Ron A Steinfeld, Robert Heales, Simon Crow, Yanick J Pelletier, Joelle N Jones, Simon Newman, William G Producer: 20110329 In: American journal of human genetics vol. 88 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	144.	Correlation between in vivo 18F-FDG PET and immunohistochemical markers of glucose uptake and metabolism in pheochromocytoma and paraganglioma. [electronic resource] by van Berkel, Anouk Rao, Jyotsna U Kusters, Benno Demir, Tuna Visser, Eric Mensenkamp, Arjen R van der Laak, Jeroen A W M Oosterwijk, Egbert Lenders, Jacques W M Sweep, Fred C G J Wevers, Ron A Hermus, Ad R Langenhuijsen, Johan F Kunst, Dirk P M Pacak, Karel Gotthardt, Martin Timmers, Henri J L M Producer: 20150713 In: Journal of nuclear medicine : official publication, Society of Nuclear Medicine vol. 55 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	145.	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)
	146.	3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients. [electronic resource] by Wortmann, Saskia B Kluijtmans, Leo A J Rodenburg, Richard J Sass, Jörn Oliver Nouws, Jessica van Kaauwen, Edwin P Kleefstra, Tjitske Tranebjaerg, Lisbeth de Vries, Maaike C Isohanni, Pirjo Walter, Katharina Alkuraya, Fowzan S Smuts, Izelle Reinecke, Carolus J van der Westhuizen, Francois H Thorburn, David Smeitink, Jan A M Morava, Eva Wevers, Ron A Producer: 20140715 In: Journal of inherited metabolic disease vol. 36 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	147.	Further characterization of ATP6V0A2-related autosomal recessive cutis laxa. [electronic resource] by Fischer, Björn Dimopoulou, Aikaterini Egerer, Johannes Gardeitchik, Thatjana Kidd, Alexa Jost, Dominik Kayserili, Hülya Alanay, Yasemin Tantcheva-Poor, Iliana Mangold, Elisabeth Daumer-Haas, Cornelia Phadke, Shubha Peirano, Reto I Heusel, Julia Desphande, Charu Gupta, Neerja Nanda, Arti Felix, Emma Berry-Kravis, Elisabeth Kabra, Madhulika Wevers, Ron A van Maldergem, Lionel Mundlos, Stefan Morava, Eva Kornak, Uwe Producer: 20130108 In: Human genetics vol. 131 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	148.	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)
	149.	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)
	150.	Eyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndrome. [electronic resource] by Wortmann, Saskia B van Hasselt, Peter M Barić, Ivo Burlina, Alberto Darin, Niklas Hörster, Friederike Coker, Mahmut Ucar, Sema Kalkan Krumina, Zita Naess, Karin Ngu, Lock H Pronicka, Ewa Riordan, Gilian Santer, Rene Wassmer, Evangeline Zschocke, Johannes Schiff, Manuel de Meirleir, Linda Alowain, Mohammed A Smeitink, Jan A M Morava, Eva Kozicz, Tamas Wevers, Ron A Wolf, Nicole I Willemsen, Michel A Producer: 20151215 In: Neuropediatrics vol. 46 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	151.	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)
	152.	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)
	153.	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)
	154.	Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations. [electronic resource] by Valstar, Marlies J Bertoli-Avella, Aida M Wessels, Marja W Ruijter, George J G de Graaf, Bianca Olmer, Renske Elfferich, Peter Neijs, Sanne Kariminejad, Roxana Suheyl Ezgü, Fatih Tokatli, Aysegul Czartoryska, Barbara Bosschaart, Ad N van den Bos-Terpstra, Feikje Puissant, Hugues Bürger, Friederike Omran, Heymut Eckert, D Filocamo, Mirella Simeonov, Emil Willems, Patrick J Wevers, Ron A Niermeijer, Martinus F Halley, Dicky J J Poorthuis, Ben J H M van Diggelen, Otto P Producer: 20100730 In: Human mutation vol. 31 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	155.	Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome). [electronic resource] by Hrebícek, Martin Mrázová, Lenka Seyrantepe, Volkan Durand, Stéphanie Roslin, Nicole M Nosková, Lenka Hartmannová, Hana Ivánek, Robert Cízkova, Alena Poupetová, Helena Sikora, Jakub Urinovská, Jana Stranecký, Viktor Zeman, Jirí Lepage, Pierre Roquis, David Verner, Andrei Ausseil, Jérome Beesley, Clare E Maire, Irène Poorthuis, Ben J H M van de Kamp, Jiddeke van Diggelen, Otto P Wevers, Ron A Hudson, Thomas J Fujiwara, T Mary Majewski, Jacek Morgan, Kenneth Kmoch, Stanislav Pshezhetsky, Alexey V Producer: 20061204 In: American journal of human genetics vol. 79 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	156.	Heterozygosity for a loss-of-function mutation in GALNT2 improves plasma triglyceride clearance in man. [electronic resource] by Holleboom, Adriaan G Karlsson, Helen Lin, Ruei-Shiuan Beres, Thomas M Sierts, Jeroen A Herman, Daniel S Stroes, Erik S G Aerts, Johannes M Kastelein, John J P Motazacker, Mohammad M Dallinga-Thie, Geesje M Levels, Johannes H M Zwinderman, Aeilko H Seidman, Jonathan G Seidman, Christine E Ljunggren, Stefan Lefeber, Dirk J Morava, Eva Wevers, Ron A Fritz, Timothy A Tabak, Lawrence A Lindahl, Mats Hovingh, G Kees Kuivenhoven, Jan Albert Producer: 20120416 In: Cell metabolism vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	157.	A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism. [electronic resource] by Morava, Eva Wevers, Ron A Cantagrel, Vincent Hoefsloot, Lies H Al-Gazali, Lihadh Schoots, Jeroen van Rooij, Arno Huijben, Karin van Ravenswaaij-Arts, Connie M A Jongmans, Marjolein C J Sykut-Cegielska, Jolanta Hoffmann, Georg F Bluemel, Peter Adamowicz, Maciej van Reeuwijk, Jeroen Ng, Bobby G Bergman, Jorieke E H van Bokhoven, Hans Körner, Christian Babovic-Vuksanovic, Dusica Willemsen, Michel A Gleeson, Joseph G Lehle, Ludwig de Brouwer, Arjan P M Lefeber, Dirk J Producer: 20101130 In: Brain : a journal of neurology vol. 133 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	158.	Erratum to: ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies. [electronic resource] by Morava, Eva Tiemes, Vera Thiel, Christian Seta, Nathalie de Lonlay, Pascale de Klerk, Hans Mulder, Margot Rubio-Gozalbo, Estela Visser, Gepke van Hasselt, Peter Horovitz, Dafne D G de Souza, Carolina Fischinger Moura Schwartz, Ida V D Green, Andrew Al-Owain, Mohammed Uziel, Graciella Sigaudy, Sabine Chabrol, Brigitte van Spronsen, Franc-Jan Steinert, Martin Komini, Eleni Wurm, Donald Bevot, Andrea Ayadi, Addelkarim Huijben, Karin Dercksen, Marli Witters, Peter Jaeken, Jaak Matthijs, Gert Lefeber, Dirk J Wevers, Ron A Publication details: Journal of inherited metabolic disease 09 2016 In: Journal of inherited metabolic disease vol. 39 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	159.	ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies. [electronic resource] by Morava, Eva Tiemes, Vera Thiel, Christian Seta, Nathalie de Lonlay, Pascale de Klerk, Hans Mulder, Margot Rubio-Gozalbo, Estela Visser, Gepke van Hasselt, Peter Horovitz, Dafne D G de Souza, Carolina Fischinger Moura Schwartz, Ida V D Green, Andrew Al-Owain, Mohammed Uziel, Graciella Sigaudy, Sabine Chabrol, Brigitte van Spronsen, Franc-Jan Steinert, Martin Komini, Eleni Wurm, Donald Bevot, Andrea Ayadi, Addelkarim Huijben, Karin Dercksen, Marli Witters, Peter Jaeken, Jaak Matthijs, Gert Lefeber, Dirk J Wevers, Ron A Producer: 20171206 In: Journal of inherited metabolic disease vol. 39 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	160.	ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation. [electronic resource] by Jansen, Eric J R Timal, Sharita Ryan, Margret Ashikov, Angel van Scherpenzeel, Monique Graham, Laurie A Mandel, Hanna Hoischen, Alexander Iancu, Theodore C Raymond, Kimiyo Steenbergen, Gerry Gilissen, Christian Huijben, Karin van Bakel, Nick H M Maeda, Yusuke Rodenburg, Richard J Adamowicz, Maciej Crushell, Ellen Koenen, Hans Adams, Darius Vodopiutz, Julia Greber-Platzer, Susanne Müller, Thomas Dueckers, Gregor Morava, Eva Sykut-Cegielska, Jolanta Martens, Gerard J M Wevers, Ron A Niehues, Tim Huynen, Martijn A Veltman, Joris A Stevens, Tom H Lefeber, Dirk J Producer: 20180924 In: Nature communications vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

First
Previous
1
2
3
4
5
6
7
8
9
Next
Last

Refine your search

Availability

Authors

Topics

Languages

Your search returned 171 results.