المؤلفون: Jaspers, Yorrick R.J., Meyer, Sven W., Pras-Raves, Mia L., Dijkstra, Inge M.E., Wever, Eric J.M., Dane, Adrie D., van Klinken, Jan-Bert, Salomons, Gajja S., Houtkooper, Riekelt H., Engelen, Marc, Kemp, Stephan, Van Weeghel, Michel, Vaz, Frédéric M.

المصدر: In Journal of Lipid Research June 2024 65(6)

المؤلفون: Marten, Lara M., Krätzner, Ralph, Salomons, Gajja S., Fernandez Ojeda, Matilde, Dechent, Peter, Gärtner, Jutta, Huppke, Peter, Dreha-Kulaczewski, Steffi

المصدر: In Molecular Genetics and Metabolism Reports March 2024 38

المؤلفون: Vaz, Frédéric M., Staps, Pippa, van Klinken, Jan Bert, van Lenthe, Henk, Vervaart, Martin, Wanders, Ronald J.A., Pras-Raves, Mia L., van Weeghel, Michel, Salomons, Gajja S., Ferdinandusse, Sacha, Wevers, Ron A., Willemsen, Michèl A.A.P.

المصدر: In BBA - Molecular and Cell Biology of Lipids March 2024 1869(2)

المؤلفون: Kok, Gautam, Tseng, Laura, Schene, Imre F., Dijsselhof, Monique E., Salomons, Gajja, Mendes, Marisa I., Smith, Desiree E.C., Wiedemann, Arnaud, Canton, Marie, Feillet, François, de Koning, Tom J., Boothe, Megan, Dean, Joy, Kassel, Rachel, Ferreira, Elise A., van den Born, Margreet, Nieuwenhuis, Edward E.S., Rehmann, Holger, Terheggen-Lagro, Suzanne W.J., van Karnebeek, Clara D.M., Fuchs, Sabine A.

المصدر: Genetics in Medicine. 23(11):2202-2207

مصطلحات موضوعية: Medicin och hälsovetenskap, Medicinska och farmaceutiska grundvetenskaper, Mikrobiologi inom det medicinska området, Medical and Health Sciences, Basic Medicine, Microbiology in the medical area

URL الوصول: https://lup.lub.lu.se/record/2dd106b2-8955-4f80-9a69-1914ddeac406
http://dx.doi.org/10.1038/s41436-021-01249-z

المؤلفون: Stöckler-Ipsiroglu, Sylvia^Aff5, Mercimek-Andrews, Saadet^Aff6, Salomons, Gajja S.^{Aff7, Aff8}

المساهمون: Saudubray, Jean-Marie, editor^Aff1, Baumgartner, Matthias R., editor^Aff2, García-Cazorla, Ángeles, editor^Aff3, Walter, John, editor^Aff4

المصدر: Inborn Metabolic Diseases : Diagnosis and Treatment. :239-245

المؤلفون: de Koning, Tom J.^{Aff6, Aff8}, Salomons, Gajja^Aff7

المساهمون: Blau, Nenad, editor^Aff1, Dionisi Vici, Carlo, editor^Aff2, Ferreira, Carlos R., editor^Aff3, Vianey-Saban, Christine, editor^Aff4, van Karnebeek, Clara D. M., editor^Aff5

المصدر: Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases. :453-467

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المؤلفون: Friedman, Jennifer, Smith, Desiree E, Issa, Mahmoud Y, Stanley, Valentina, Wang, Rengang, Mendes, Marisa I, Wright, Meredith S, Wigby, Kristen, Hildreth, Amber, Crawford, John R, Koehler, Alanna E, Chowdhury, Shimul, Nahas, Shareef, Zhai, Liting, Xu, Zhiwen, Lo, Wing-Sze, James, Kiely N, Musaev, Damir, Accogli, Andrea, Guerrero, Kether, Tran, Luan T, Omar, Tarek EI, Ben-Omran, Tawfeg, Dimmock, David, Kingsmore, Stephen F, Salomons, Gajja S, Zaki, Maha S, Bernard, Geneviève, Gleeson, Joseph G

المصدر: Nature communications. 10(1)

مصطلحات موضوعية: Humans, Microcephaly, Epilepsy, Disease Progression, Genetic Predisposition to Disease, Valine-tRNA Ligase, RNA, Transfer, Anticodon, Longitudinal Studies, Pedigree, Protein Biosynthesis, Mutation, Alleles, Models, Molecular, Child, Child, Preschool, Female, Male, Protein Interaction Domains and Motifs, Neurodevelopmental Disorders, Whole Genome Sequencing, Whole Exome Sequencing, Loss of Function Mutation, Neurodegenerative, Intellectual and Developmental Disabilities (IDD), Pediatric, Rare Diseases, Genetics, Neurosciences, Brain Disorders, 2.1 Biological and endogenous factors

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/7527h1v1