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2021
van Outersterp, Rianne E., Engelke, Udo F. H., Merx, Jona, Berden, Giel, Paul, Mathias, Thomulka, Thomas, Berkessel, Albrecht, Huigen, Marleen C. D. G., Kluijtmans, Leo A. J., Mecinovic, Jasmin 
ORCID: 0000-0002-5559-3822, Rutjes, Floris P. J. T., van Karnebeek, Clara D. M., Wevers, Ron A., Boltje, Thomas J., Coene, Karlien L. M., Martens, Jonathan and Oomens, Jos ORCID: 0000-0002-2717-1278
(2021).
Metabolite Identification Using Infrared Ion Spectroscopy-Novel Biomarkers for Pyridoxine-Dependent Epilepsy.
Anal. Chem., 93 (46).
S. 15340 - 15349.
WASHINGTON:
AMER CHEMICAL SOC.
ISSN 1520-6882
2010
Otto, Edgar A., Hurd, Toby W., Airik, Rannar, Chaki, Moumita, Zhou, Weibin, Stoetzel, Corinne, Patil, Suresh B., Levy, Shawn ORCID: 0000-0002-1369-5740, Ghosh, Amiya K., Murga-Zamalloa, Carlos A., van Reeuwijk, Jeroen ORCID: 0000-0002-0658-4399, Letteboer, Stef J. F., Sang, Liyun, Giles, Rachel H., Liu, Qin, Coene, Karlien L. M., Estrada-Cuzcano, Alejandro ORCID: 0000-0001-9868-2465, Collin, Rob W. J., McLaughlin, Heather M., Held, Susanne, Kasanuki, Jennifer M., Ramaswami, Gokul, Conte, Jinny, Lopez, Irma, Washburn, Joseph, MacDonald, James, Hu, Jinghua, Yamashita, Yukiko ORCID: 0000-0001-5541-0216, Maher, Eamonn R., Guay-Woodford, Lisa M., Neumann, Hartmut P. H., Obermueller, Nicholas, Koenekoop, Robert K., Bergmann, Carsten, Bei, Xiaoshu ORCID: 0000-0003-1772-7161, Lewis, Richard A., Katsanis, Nicholas ORCID: 0000-0002-2480-0171, Lopes, Vanda, Williams, David S., Lyons, Robert H., Dang, Chi V., Brito, Daniela A., Dias, Monica Bettencourt, Zhang, Xinmin, Cavalcoli, James D., Nuernberg, Gudrun, Nuernberg, Peter, Pierce, Eric A., Jackson, Peter K., Antignac, Corinne, Saunier, Sophie ORCID: 0000-0002-1069-0047, Roepman, Ronald ORCID: 0000-0002-5178-8163, Dollfus, Helene, Khanna, Hemant and Hildebrandt, Friedhelm
(2010).
Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy.
Nature Genet., 42 (10).
S. 840 - 853.
NEW YORK:
NATURE PUBLISHING GROUP.
ISSN 1546-1718