Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies
Gardeitchik, Thatjana, Mohamed, Miski, Ruzzenente, Benedetta, Karall, Daniela, Guerrero-Castillo, Sergio, Dalloyaux, Daisy, van den Brand, Mariël, van Kraaij, Sanne, van Asbeck, Ellyze, Assouline, Zahra, Rio, Marlene, de Lonlay, Pascale, Scholl-Buergi, Sabine, Wolthuis, David F.G.J., Hoischen, Alexander, Rodenburg, Richard J., Sperl, Wolfgang, Urban, Zsolt, Brandt, Ulrich, Mayr, Johannes A., Wong, Sunnie, de Brouwer, Arjan P.M., Nijtmans, Leo, Munnich, Arnold, Rötig, Agnès, Wevers, Ron A., Metodiev, Metodi D., Morava, Eva
Published in American journal of human genetics (05.04.2018)
Published in American journal of human genetics (05.04.2018)
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Journal Article
Cutis laxa, fat pads and retinopathy due to ALDH18A1 mutation and review of the literature
Wolthuis, David F.G.J, van Asbeck, Ellyze, Mohamed, Miski, Gardeitchik, Thatjana, Lim-Melia, Elizabeth R, Wevers, Ron A, Morava, Eva
Published in European journal of paediatric neurology (01.07.2014)
Published in European journal of paediatric neurology (01.07.2014)
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Journal Article
Limited skin lesions in a haemodialysis patient
Wolthuis, David F.G.J., de Mare, Saskia, Verhave, Jacobien C.
Published in European journal of internal medicine (01.02.2020)
Published in European journal of internal medicine (01.02.2020)
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Journal Article
Apoptosis and NET formation in the pathogenesis of SLE
Bouts, Yvette M., Wolthuis, David F.G.J., Dirkx, Michiel F.M., Pieterse, Elmar, Simons, Esther M.F., Van Boekel, Anna M., Dieker, Jürgen W., Van Der Vlag, Johan
Published in Autoimmunity (Chur, Switzerland) (01.12.2012)
Published in Autoimmunity (Chur, Switzerland) (01.12.2012)
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Journal Article
A novel phenotype associated with cutis laxa, abnormal fat distribution, cardiomyopathy and cataract
Van Asbeck, Ellyze, Wolthuis, David F.G.J., Mohamed, Miski, Wevers, Ron A., Korenke, Cristoph G., Gardeitchik, Thatjana, Morava, Eva
Published in American journal of medical genetics. Part A (01.04.2014)
Published in American journal of medical genetics. Part A (01.04.2014)
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Journal Article
Spontaneous Splenic Rupture in an Ill Returned Traveller
Wolthuis, David Fgj, Bosboom, Ron W, Hassing, Robert-Jan
Published in European journal of case reports in internal medicine (18.09.2020)
Published in European journal of case reports in internal medicine (18.09.2020)
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Journal Article
Defining the phenotype and diagnostic considerations in adults with congenital disorders of N-linked glycosylation
Wolthuis, David FGJ, Janssen, Miriam C, Cassiman, David, Lefeber, Dirk J, Morava-Kozicz, Eva
Published in Expert review of molecular diagnostics (01.03.2014)
Published in Expert review of molecular diagnostics (01.03.2014)
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Journal Article
NAFLD Phenotype in Patients With V-ATPase Proton Pump Assembly Defects
Jansen, Jos C., MD, Wolthuis, David, MD, Van Scherpenzeel, Monique, PhD, Ratziu, Vlad, MD, PhD, Drenth, Joost P.H., MD, PhD, Lefeber, Dirk J., PhD
Published in Cellular and molecular gastroenterology and hepatology (01.01.2018)
Published in Cellular and molecular gastroenterology and hepatology (01.01.2018)
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