Autosomal recessive cutis laxa syndrome revisited
MORAVA, Eva, GUILLARD, Mailys, LEFEBER, Dirk, WEVERS, Ron A
Published in European journal of human genetics : EJHG (01.09.2009)
Published in European journal of human genetics : EJHG (01.09.2009)
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Journal Article
Intellectual disability and bleeding diathesis due to deficient CMP--sialic acid transport
Mohamed, Miski, Ashikov, Angel, Guillard, Mailys, Robben, Joris H, Schmidt, Samuel, van den Heuvel, B, de Brouwer, Arjan P M, Gerardy-Schahn, Rita, Deen, Peter M T, Wevers, Ron A, Lefeber, Dirk J, Morava, Eva
Published in Neurology (13.08.2013)
Published in Neurology (13.08.2013)
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Journal Article
B4GALT1-Congenital Disorders of Glycosylation Presents as a Non-Neurologic Glycosylation Disorder with Hepatointestinal Involvement
Guillard, Maïlys, Morava, Eva, MD, PhD, de Ruijter, Jorg, Roscioli, Tony, MD, PhD, Penzien, Johann, MD, PhD, van den Heuvel, Lambert, PhD, Willemsen, Michel A., MD, PhD, de Brouwer, Arjan, PhD, Bodamer, Olaf A., MD, PhD, Wevers, Ron A., PhD, Lefeber, Dirk J., PhD
Published in The Journal of pediatrics (01.12.2011)
Published in The Journal of pediatrics (01.12.2011)
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Journal Article
Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I
Guillard, Mailys, Wada, Yoshinao, Hansikova, Hana, Yuasa, Isao, Vesela, Katerina, Ondruskova, Nina, Kadoya, Machiko, Janssen, Alice, Van den Heuvel, Lambertus P. W. J., Morava, Eva, Zeman, Jiri, Wevers, Ron A., Lefeber, Dirk J.
Published in Journal of inherited metabolic disease (01.08.2011)
Published in Journal of inherited metabolic disease (01.08.2011)
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Journal Article
Plasma N-glycan profiling by mass spectrometry for congenital disorders of glycosylation type II
Guillard, Maïlys, Morava, Eva, van Delft, Floris L, Hague, Rosie, Körner, Christian, Adamowicz, Maciej, Wevers, Ron A, Lefeber, Dirk J
Published in Clinical chemistry (Baltimore, Md.) (01.04.2011)
Published in Clinical chemistry (Baltimore, Md.) (01.04.2011)
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Journal Article
Deficiency of Dol-P-Man Synthase Subunit DPM3 Bridges the Congenital Disorders of Glycosylation with the Dystroglycanopathies
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.
Published in American journal of human genetics (10.07.2009)
Published in American journal of human genetics (10.07.2009)
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Journal Article
Vacuolar H +-ATPase meets glycosylation in patients with cutis laxa
Guillard, Mailys, Dimopoulou, Aikaterini, Fischer, Björn, Morava, Eva, Lefeber, Dirk J., Kornak, Uwe, Wevers, Ron A.
Published in Biochimica et biophysica acta (01.09.2009)
Published in Biochimica et biophysica acta (01.09.2009)
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Journal Article
Pericardial and abdominal fluid accumulation in Congenital Disorder of Glycosylation type Ia
Truin, Gerben, Guillard, Mailys, Lefeber, Dirk J., Sykut-Cegielska, Jolanta, Adamowicz, Maciej, Hoppenreijs, Esther, Sengers, Rob C.A., Wevers, Ron A., Morava, Eva
Published in Molecular genetics and metabolism (01.08.2008)
Published in Molecular genetics and metabolism (01.08.2008)
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Journal Article
Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I : CDG: an uptdate
GUILLARD, Mailys, WADA, Yoshinao, ZEMAN, Jiri, WEVERS, Ron A, LEFEBER, Dirk J, HANSIKOVA, Hana, YUASA, Isao, VESELA, Katerina, ONDRUSKOVA, Nina, KADOYA, Machiko, JANSSEN, Alice, VAN DEN HEUVEL, Lambertus P. W. J, MORAVA, Eva
Published in Journal of inherited metabolic disease (2011)
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Published in Journal of inherited metabolic disease (2011)
Journal Article
AN IMPLANTABLE ELECTRICAL STIMULATION DEVICE WITH A FLEXIBLE ELECTRODE
HUBERT CÉCILE FRANÇOIS MARTENS, DANIËL WILLEM ELISABETH SCHOBBEN, MAILYS GUILLARD
Year of Publication 30.11.2020
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Year of Publication 30.11.2020
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Reply to Leao-Teles et al
Morava, Eva, Guillard, Maïlys, Lefeber, Dirk J, Wevers, Ron A
Published in European journal of human genetics : EJHG (01.05.2010)
Published in European journal of human genetics : EJHG (01.05.2010)
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