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Author/Creator Rodenburg, Richard

1. High prevalence of complementary and alternative medicine use in patients with genetically proven mitochondrial disorders. Issue 3 (11th October 2014)

Authors:
Franik, Sebastian; Huidekoper, Hidde H.; Visser, Gepke; de Vries, Maaike; de Boer, Lonneke; Hermans‐Peters, Marion; Rodenburg, Richard; Verhaak, Chris; Vlieger, Arine M.; Smeitink, Jan A. M.; Janssen, Mirian C. H.; Wortmann, Saskia B.
Journal:
Journal of inherited metabolic disease
Issue:
Volume 38:Issue 3(2015)
Page Start:
477
Record Type:
Journal Article
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2. How to proceed after "negative" exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques. Issue 4 (22nd May 2022)

Authors:
Wortmann, Saskia B.; Oud, Machteld M.; Alders, Mariëlle; Coene, Karlien L. M.; van der Crabben, Saskia N.; Feichtinger, René G.; Garanto, Alejandro; Hoischen, Alex; Langeveld, Mirjam; Lefeber, Dirk; Mayr, Johannes A.; Ockeloen, Charlotte W.; Prokisch, Holger; Rodenburg, Richard; Waterham, Hans R....
Journal:
Journal of inherited metabolic disease
Issue:
Volume 45:Issue 4(2022)
Page Start:
663
Record Type:
Journal Article
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4. Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation. (5th June 2018)

Authors:
Ashikov, Angel; Abu Bakar, Nurulamin; Wen, Xiao-Yan; Niemeijer, Marco; Rodrigues Pinto Osorio, Glentino; Brand-Arzamendi, Koroboshka; Hasadsri, Linda; Hansikova, Hana; Raymond, Kimiyo; Vicogne, Dorothée; Ondruskova, Nina; Simon, Marleen E H; Pfundt, Rolph; Timal, Sharita; Beumers, Roel; Biot, Chr...
Journal:
Human molecular genetics
Issue:
Volume 27:Number 17(2018:Sep. 01)
Page Start:
3029
Record Type:
Journal Article
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5. Investigating the cardiac pathology of SCO2‐mediated hypertrophic cardiomyopathy using patients induced pluripotent stem cell–derived cardiomyocytes. Issue 2 (28th November 2017)

Authors:
Hallas, Tova; Eisen, Binyamin; Shemer, Yuval; Ben Jehuda, Ronen; Mekies, Lucy N.; Naor, Shulamit; Schick, Revital; Eliyahu, Sivan; Reiter, Irina; Vlodavsky, Eugene; Katz, Yeshayahu (Shai); Õunap, Katrin; Lorber, Avraham; Rodenburg, Richard; Mandel, Hanna; Gherghiceanu, Mihaela; Binah, Ofer
Journal:
Journal of cellular and molecular medicine
Issue:
Volume 22:Issue 2(2018)
Page Start:
913
Record Type:
Journal Article
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6. Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences. Issue 3 (15th February 2017)

Authors:
Wortmann, Saskia B.; Chen, Margaret A.; Colombo, Roberto; Pontoglio, Alessandro; Alhaddad, Bader; Botto, Lorenzo D.; Yuzyuk, Tatiana; Coughlin, Curtis R.; Descartes, Maria; Grűnewald, Stephanie; Maranda, Bruno; Mills, Philippa B.; Pitt, James; Potente, Catherine; Rodenburg, Richard; Kluijtmans, L...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 40:Issue 3(2017)
Page Start:
423
Record Type:
Journal Article
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7. MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death. Issue 1 (December 2016)

Authors:
Eldomery, Mohammad; Akdemir, Zeynep; Vögtle, F.-Nora; Charng, Wu-Lin; Mulica, Patrycja; Rosenfeld, Jill; Gambin, Tomasz; Gu, Shen; Burrage, Lindsay; Al Shamsi, Aisha; Penney, Samantha; Jhangiani, Shalini; Zimmerman, Holly; Muzny, Donna; Wang, Xia; Tang, Jia; Medikonda, Ravi; Ramachandran, Prasann...
Journal:
Genome medicine
Issue:
Volume 8:Issue 1(2016)
Page Start:
1
Record Type:
Journal Article
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8. Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis. (January 2018)

Authors:
Pol, Arjan; Renkema, G.; Tangerman, Albert; Winkel, Edwin; Engelke, Udo; de Brouwer, Arjan; Lloyd, Kent; Araiza, Renee; van den Heuvel, Lambert; Omran, Heymut; Olbrich, Heike; Oude Elberink, Marijn; Gilissen, Christian; Rodenburg, Richard; Sass, Jörn; Schwab, K.; Schäfer, Hendrik; Venselaar, Hank...
Journal:
Nature genetics
Issue:
Volume 50:Number 1(2018)
Page Start:
120
Record Type:
Journal Article
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9. Mutations in the V‐ATPase Assembly Factor VMA21 Cause a Congenital Disorder of Glycosylation With Autophagic Liver Disease. Issue 6 (23rd December 2020)

Authors:
Cannata Serio, Magda; Graham, Laurie A.; Ashikov, Angel; Larsen, Lars Elmann; Raymond, Kimiyo; Timal, Sharita; Le Meur, Gwenn; Ryan, Margret; Czarnowska, Elzbieta; Jansen, Jos C.; He, Miao; Ficicioglu, Can; Pichurin, Pavel; Hasadsri, Linda; Minassian, Berge; Rugierri, Alessandra; Kalimo, Hannu; R...
Journal:
Hepatology
Issue:
Volume 72:Issue 6(2020)
Page Start:
1968
Record Type:
Journal Article
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10. Primary skeletal muscle myoblasts from chronic heart failure patients exhibit loss of anti-inflammatory and proliferative activity. Issue 1 (December 2016)

Authors:
Sente, Tahnee; Van Berendoncks, An; Jonckheere, An; Rodenburg, Richard; Lauwers, Patrick; Van Hoof, Viviane; Wouters, An; Lardon, Filip; Hoymans, Vicky; Vrints, Christiaan
Journal:
BMC cardiovascular disorders
Issue:
Volume 16:Issue 1(2016)
Page Start:
1
Record Type:
Journal Article
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