Search Results - Rodenburg, Richard

Mutations in the V-ATPase assembly factor VMA21 cause a congenital disorder of glycosylation with autophagic liver disease by Cannata Serio, Magda (Author) , Graham, Laurie A. (Author) , Ashikov, Angel (Author) , Larsen, Lars Elmann (Author) , Raymond, Kimiyo (Author) , Timal, Sharita (Author) , Meur, Gwenn Le (Author) , Ryan, Margret (Author) , Czarnowska, Elzbieta (Author) , Jansen, Jos C. (Author) , He, Miao (Author) , Ficicioglu, Can (Author) , Pichurin, Pavel (Author) , Hasadsri, Linda (Author) , Minassian, Berge (Author) , Rugierri, Alessandra (Author) , Kalimo, Hannu (Author) , Ríos‐Ocampo, W. Alfredo (Author) , Gilissen, Christian (Author) , Rodenburg, Richard (Author) , Jonker, Johan W. (Author) , Holleboom, Adriaan G. (Author) , Morava, Eva (Author) , Veltman, Joris A. (Author) , Socha, Piotr (Author) , Stevens, Tom H. (Author) , Simons, Matias (Author) , Lefeber, Dirk J. (Author) ,

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Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement by Haack, Tobias (Author) , Jackson, Christopher B. (Author) , Murayama, Kei (Author) , Kremer, Laura S. (Author) , Schaller, André (Author) , Kotzaeridou, Urania (Author) , Vries, Maaike C. de (Author) , Schottmann, Gudrun (Author) , Santra, Saikat (Author) , Büchner, Boriana (Author) , Wieland, Thomas (Author) , Graf, Elisabeth (Author) , Freisinger, Peter (Author) , Eggimann, Sandra (Author) , Ohtake, Akira (Author) , Okazaki, Yasushi (Author) , Kohda, Masakazu (Author) , Kishita, Yoshihito (Author) , Tokuzawa, Yoshimi (Author) , Sauer, Sascha (Author) , Memari, Yasin (Author) , Kolb‐Kokocinski, Anja (Author) , Durbin, Richard (Author) , Hasselmann, Oswald (Author) , Cremer, Kirsten (Author) , Albrecht, Beate (Author) , Wieczorek, Dagmar (Author) , Engels, Hartmut (Author) , Hahn, Dagmar (Author) , Zink, Alexander M. (Author) , Alston, Charlotte L. (Author) , Taylor, Robert W. (Author) , Rodenburg, Richard J. (Author) , Trollmann, Regina (Author) , Sperl, Wolfgang (Author) , Strom, Tim M. (Author) , Hoffmann, Georg F. (Author) , Mayr, Johannes A. (Author) , Meitinger, Thomas (Author) , Bolognini, Ramona (Author) , Schuelke, Markus (Author) , Nuoffer, Jean-Marc (Author) , Kölker, Stefan (Author) , Prokisch, Holger (Author) , Klopstock, Thomas (Author) ,

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NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern by Kevelam, Sietske H. (Author) , Rodenburg, Richard J. (Author) , Wolf, Nicole I. (Author) , Ferreira, Patrick (Author) , Lunsing, Roelineke J. (Author) , Nijtmans, Leo G. (Author) , Mitchell, Anne (Author) , Arroyo, Hugo A. (Author) , Rating, Dietz (Author) , Vanderver, Adeline (Author) , Berkel, Carola G. M. van (Author) , Abbink, Truus E. M. (Author) , Heutink, Peter (Author) , Knaap, Marjo S. van der (Author) ,

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A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia by Szklarczyk, Radek (Author) , Wanschers, Bas F. J. (Author) , Nijtmans, Leo G. (Author) , Rodenburg, Richard J. (Author) , Zschocke, Johannes (Author) , Dikow, Nicola (Author) , van den Brand, Mariël A. M. (Author) , Hendriks-Franssen, Marthe G. M. (Author) , Gilissen, Christian (Author) , Veltman, Joris A. (Author) , Nooteboom, Marco (Author) , Koopman, Werner J. H. (Author) , Willems, Peter H.G.M. (Author) , Smeitink, Jan A. M. (Author) , Huynen, Martijn A. (Author) , van den Heuvel, Lambertus P. (Author) ,

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Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy by Smits, Paulien (Author) , Saada, Ann (Author) , Wortmann, Saskia B. (Author) , Heister, Angelien J. (Author) , Brink, Maaike (Author) , Pfundt, Rolph (Author) , Miller, Chaya (Author) , Haas, Dorothea (Author) , Hantschmann, Ralph (Author) , Rodenburg, Richard J. T. (Author) , Smeitink, Jan A. M. (Author) , van den Heuvel, Lambert P. (Author) ,

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