Search Results - Veltman, Joris A.

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    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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    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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    Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations by Littink, Karin (Author) , Koenekoop, Robert K. (Author) , van den Born, L. Ingeborgh (Author) , Collin, Rob W. J. (Author) , Moruz, Luminita (Author) , Veltman, Joris A. (Author) , Roosing, Susanne (Author) , Zonneveld, Marijke N. (Author) , Omar, Amer (Author) , Darvish, Mahshad (Author) , Lopez, Irma (Author) , Kroes, Hester Y. (Author) , van Genderen, Maria M. (Author) , Hoyng, Carel B. (Author) , Rohrschneider, Klaus (Author) , van Schooneveld, Mary J. (Author) , Cremers, Frans P. M. (Author) , den Hollander, Anneke I. (Author) ,


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