المؤلفون: Bögershausen, Nina, Krawczyk, Hannah E., Jamra, Rami A., Lin, Sheng‐Jia, Yigit, Gökhan, Hüning, Irina, Polo, Anna M., Vona, Barbara, Huang, Kevin, Schmidt, Julia, Altmüller, Janine, Luppe, Johannes, Platzer, Konrad, Dörgeloh, Beate B., Busche, Andreas, Biskup, Saskia, Mendes, Marisa I., Smith, Desiree E. C., Salomons, Gajja S., Zibat, Arne, Bültmann, Eva, Nürnberg, Peter, Spielmann, Malte, Lemke, Johannes R., Li, Yun, Zenker, Martin, Varshney, Gaurav K., Hillen, Hauke S., Kratz, Christian P., Wollnik, Bernd

مصطلحات موضوعية: aminoacylation, aminoacyl‐tRNA synthetase, ARS, CRISPR/Cas9, intellectual disability, microcephaly, SARS1, tRNA, WARS1, zebrafish, info:eu-repo/classification/ddc/570, ddc:570, info:eu-repo/classification/ddc/610, ddc:610

الاتاحة: https://ul.qucosa.de/id/qucosa%3A95375
https://ul.qucosa.de/api/qucosa%3A95375/attachment/ATT-0/

المؤلفون: Zbukvic, Isabel, Fisher, Evangeline, Stainton, Alexandra, Bryce, Shayden, Kartal, Dzenana, Kunin, Marina, Nicholas, Jennifer, Hamilton, Craig, Smith, Desiree, Murphy, Mackenzie, Llerena, Joshua, Unsworth, Lee, Cheng, Nicholas, Bowden, Stephen C., Chakma, Symphony, Clark, Scott Richard, Francey, Shona, Gao, Caroline, Gee, Donna, Gelok, Elle, Harris, Anthony, Hatfield, Lilianne, Hopkins, Liza, Morell, Rachel, O'Halloran, Chris, Purdon, Scot, Schubert, K. Oliver, Scully, Alana, Tang, Hejun, Thomas, Adrian, Thompson, Andrew, Uren, Jacqueline, Wood, Stephen J., Zhao, Wendi, Allott, Kelly

المصدر: Early Intervention in Psychiatry ; volume 19, issue 2 ; ISSN 1751-7885 1751-7893

الاتاحة: https://doi.org/10.1111/eip.70004
https://onlinelibrary.wiley.com/doi/pdf/10.1111/eip.70004

المؤلفون: Zbukvic, Isabel, Bryce, Shayden, Pilkington, Vita, Mills, Robyn, Smith, Desiree, Alahakoon, Laksha, Crlenjak, Caroline, Benson, Melinda, Delprado, Jacinta, Kamminga, Jody, Allott, Kelly

المساهمون: University of Melbourne

المصدر: Global Implementation Research and Applications ; ISSN 2662-9275

الاتاحة: https://doi.org/10.1007/s43477-024-00146-2
https://link.springer.com/content/pdf/10.1007/s43477-024-00146-2.pdf
https://link.springer.com/article/10.1007/s43477-024-00146-2/fulltext.html

المؤلفون: Kok, Gautam, Schene, Imre F, Ilcken, Eveline F, Alcaraz, Paula Sobrevals, Mendes, Marisa I, Smith, Desiree E C, Salomons, Gajja, Shehata, Sawsan, Jans, Judith J M, Maroofian, Reza, Hoek, Tim A, van Es, Robert M, Rehmann, Holger, Nieuwenhuis, Edward E S, Vos, Harmjan R, Fuchs, Sabine A

المساهمون: Stichting Metakids, Netherlands Organization for Health Research and Development, Nederlandse Organisatie voor Wetenschappelijk Onderzoek

المصدر: Nucleic Acids Research ; volume 53, issue 1 ; ISSN 0305-1048 1362-4962

الاتاحة: https://doi.org/10.1093/nar/gkae1184
https://academic.oup.com/nar/article-pdf/53/1/gkae1184/61003557/gkae1184.pdf

المؤلفون: Liepina, Lelde, Smith, Desiree E. C., Huidekoper, Hidde, Zeidler, Shimriet, Wamelink, Mirjam, de Wit, Marie-Claire, Wilke, Martina, Ruijter, George, Bierau, J. rgen, Blom, Henk J.

المصدر: Liepina , L , Smith , D E C , Huidekoper , H , Zeidler , S , Wamelink , M , de Wit , M-C , Wilke , M , Ruijter , G , Bierau , J R & Blom , H J 2024 , ' 5,10-methenyltetrahydrofolate synthetase deficiency : An extreme rare defect of folate metabolism in two Dutch siblings ' , JIMD Reports , vol. 65 , no. 2 , pp. 49-55 . https://doi.org/10.1002/jmd2.12409

الاتاحة: https://research.vumc.nl/en/publications/6e05f926-f728-4feb-8ec2-1043c9856a1c
https://doi.org/10.1002/jmd2.12409
http://www.scopus.com/inward/record.url?scp=85187638328&partnerID=8YFLogxK

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: Kok, Gautam, Schene, Imre F, Ilcken, Eveline F, Alcaraz, Paula Sobrevals, Mendes, Marisa I, Smith, Desiree E C, Salomons, Gajja, Shehata, Sawsan, Jans, Judith J M, Maroofian, Reza, Hoek, Tim A, van Es, Robert M, Rehmann, Holger, Nieuwenhuis, Edward E S, Vos, Harmjan R, Fuchs, Sabine A

المصدر: Nucleic Acids Research; 1/13/2025, Vol. 53 Issue 1, p1-12, 12p

المؤلفون: den Bakker, Emil, Smith, Desiree E. C., Finken, Martijn J. J., Wamelink, Mirjam M. C., Salomons, Gajja S., van de Kamp, Jiddeke M., Bökenkamp, Arend

المصدر: Essays in Biochemistry; Dec2024, Vol. 68 Issue 4, p391-399, 9p

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

المؤلفون: Pfau, Anja, López-Cayuqueo, Karen I., Scherer, Nora, Wuttke, Matthias, Wernstedt, Annekatrin, González Fassrainer, Daniela, Smith, Desiree Ec, van de Kamp, Jiddeke M., Ziegeler, Katharina, Eckardt, Kai-Uwe, Luft, Friedrich C., Aronson, Peter S., Köttgen, Anna, Jentsch, Thomas J., Knauf, Felix

المصدر: Pfau , A , López-Cayuqueo , K I , Scherer , N , Wuttke , M , Wernstedt , A , González Fassrainer , D , Smith , D E , van de Kamp , J M , Ziegeler , K , Eckardt , K-U , Luft , F C , Aronson , P S , Köttgen , A , Jentsch , T J & Knauf , F 2023 , ' SLC26A1 is a major determinant of sulfate homeostasis in humans ' , Journal of Clinical Investigation , vol. 133 , no. 3 , e16184 . https://doi.org/10.1172/JCI161849

الاتاحة: https://research.vumc.nl/en/publications/754b102f-54c1-4967-b2e2-238176d1e7c4
https://doi.org/10.1172/JCI161849
http://www.scopus.com/inward/record.url?scp=85147234176&partnerID=8YFLogxK

المؤلفون: van de Kamp, Jiddeke M, Bökenkamp, Arend, Smith, Desiree E C, Wamelink, Mirjam M C, Jansen, Erwin E W, Struys, Eduard A, Waisfisz, Quinten, Verkleij, Marieke, Hartmann, Michaela F, Wang, Rong, Wudy, Stefan A, Paganini, Chiara, Rossi, Antonio, Finken, Martijn J J

المصدر: van de Kamp , J M , Bökenkamp , A , Smith , D E C , Wamelink , M M C , Jansen , E E W , Struys , E A , Waisfisz , Q , Verkleij , M , Hartmann , M F , Wang , R , Wudy , S A , Paganini , C , Rossi , A & Finken , M J J 2023 , ' Biallelic variants in the SLC13A1 sulfate transporter gene cause hyposulfatemia with a mild spondylo-epi-metaphyseal dysplasia ' , Clinical Genetics , vol. 103 , no. 1 , pp. ....

Relation: https://research.vumc.nl/en/publications/a24c229a-b9f6-40b3-b73f-3f56edb485bb

الاتاحة: https://research.vumc.nl/en/publications/a24c229a-b9f6-40b3-b73f-3f56edb485bb
https://doi.org/10.1111/cge.14239
http://www.scopus.com/inward/record.url?scp=85139180023&partnerID=8YFLogxK

المؤلفون: Sultan, Dawood H., Ghebrezadik, Diana G., Smith, Desiree S., Ombengi, David N., Ayedun, Lolade, Luke, Faith E., Demery, Janee L., Scoggins, Chris T., Penn-Marshall, Michelle

المصدر: Journal of Racial & Ethnic Health Disparities; Oct2024, Vol. 11 Issue 5, p2740-2755, 16p

المؤلفون: Kuijpers, Taco W., de Vries, Andrica C.H., van Leeuwen, Ester M., Ermens, A. A.M., de Pont, Saskia, Smith, Desirée E.C., Wamelink, Mirjam M.C., Mensenkamp, Arjen R., Nelen, Marcel R., Allen, Hana Lango, Pals, Steven T., Beverloo, Berna H.B., Huidekoper, Hidde H., Wagner, Anja

المصدر: Kuijpers , T W , de Vries , A C H , NIHR BioResource Study Group , van Leeuwen , E M , Ermens , A A M , de Pont , S , Smith , D E C , Wamelink , M M C , Mensenkamp , A R , Nelen , M R , Allen , H L , Pals , S T , Beverloo , B H B , Huidekoper , H H & Wagner , A 2022 , ' Megalobastic anemia, infantile leukemia, and immunodeficiency caused by a novel homozygous mutation in the DHFR gene ....

وصف الملف: application/pdf

الاتاحة: https://pure.eur.nl/en/publications/f120c3ba-bc71-497d-a852-61d7db518a2c
https://doi.org/10.1182/bloodadvances.2022007233
https://pure.eur.nl/ws/files/74565814/Megalobastic_anemia_infantile_leukemia_and_immunodeficiency_caused_by_a_novel_homozygous_mutation_in_the_DHFR_gene.pdf
http://www.scopus.com/inward/record.url?scp=85143166064&partnerID=8YFLogxK

المؤلفون: Mendes, Marisa I, Wolf, Nicole I, Rudinger-Thirion, Joëlle, Lenz, Dominic, Frugier, Magali, Verloo, Patrick, Mandel, Hanna, Manor, Joshua, Kassel, Rachel, Corpeleijn, Willemijn E, van der Rijt, Sanne, Schroor, Elsbeth M, van Dooren, Silvy J M, Staufner, Christian, Salomons, Gajja S, Smith, Desirée E C

المصدر: Nucleic Acids Res ; ISSN:1362-4962 ; Volume:52 ; Issue:22

Relation: https://doi.org/10.1093/nar/gkae1134; https://pubmed.ncbi.nlm.nih.gov/39574415; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11662674/

الاتاحة: https://doi.org/10.1093/nar/gkae1134
https://pubmed.ncbi.nlm.nih.gov/39574415
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11662674/

المؤلفون: Wang, Lu, Li, Zhen, Sievert, David, Smith, Desirée E. C., Mendes, Marisa I., Chen, Dillon Y., Stanley, Valentina, Ghosh, Shereen, Wang, Yulu, Kara, Majdi, Aslanger, Ayca Dilruba, Rosti, Rasim O., Houlden, Henry, Salomons, Gajja S., Gleeson, Joseph G.

المصدر: Wang , L , Li , Z , Sievert , D , Smith , D E C , Mendes , M I , Chen , D Y , Stanley , V , Ghosh , S , Wang , Y , Kara , M , Aslanger , A D , Rosti , R O , Houlden , H , Salomons , G S & Gleeson , J G 2021 , ' Author Correction : Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly (Nature Communications, (2020), 11, 1, (4038), 10.1038/s41467-020-17454-4) ' , Nature Communications , ....

الاتاحة: https://research.vumc.nl/en/publications/2b03839c-7595-4188-9a3b-ce504996ed79
https://doi.org/10.1038/s41467-021-21448-1
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85101475285&origin=inward
https://www.ncbi.nlm.nih.gov/pubmed/33589599

المؤلفون: Schuch, Luise A., Forstner, Maria, Rapp, Christina K., Li, Yang, Smith, Desiree E. C., Mendes, Marisa I., Delhommel, Florent, Sattler, Michael, Emiralioğlu, Nagehan, Taskiran, Ekim Z., Orhan, Diclehan, Kiper, Nural, Rohlfs, Meino, Jeske, Tim, Hastreiter, Maximilian, Gerstlauer, Michael, Torrent-Vernetta, Alba, Moreno-Galdó, Antonio, Kammer, Birgit, Brasch, Frank, Reu-Hofer, Simone, Griese, Matthias

المصدر: Schuch , L A , Forstner , M , Rapp , C K , Li , Y , Smith , D E C , Mendes , M I , Delhommel , F , Sattler , M , Emiralioğlu , N , Taskiran , E Z , Orhan , D , Kiper , N , Rohlfs , M , Jeske , T , Hastreiter , M , Gerstlauer , M , Torrent-Vernetta , A , Moreno-Galdó , A , Kammer , B , Brasch , F , Reu-Hofer , S & Griese , M 2021 , ' FARS1-related disorders caused ....

الاتاحة: https://research.vumc.nl/en/publications/0f077da0-29e3-4fa2-a33d-00d63a72a5e6
https://doi.org/10.1111/cge.13943
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85101856190&origin=inward
https://www.ncbi.nlm.nih.gov/pubmed/33598926

المؤلفون: Botta, Elena, Theil, Arjan F., Raams, Anja, Caligiuri, Giuseppina, Giachetti, Sarah, Bione, Silvia, Accadia, Maria, Lombardi, Anita, Smith, Desiree E. C., Mendes, Marisa I., Swagemakers, Sigrid M. A., van der Spek, Peter J., Salomons, Gajja S., Hoeijmakers, Jan H. J., Yesodharan, Dhanya, Nampoothiri, Sheela, Ogi, Tomoo, Lehmann, Alan R., Orioli, Donata, Vermeulen, Wim

المصدر: Botta , E , Theil , A F , Raams , A , Caligiuri , G , Giachetti , S , Bione , S , Accadia , M , Lombardi , A , Smith , D E C , Mendes , M I , Swagemakers , S M A , van der Spek , P J , Salomons , G S , Hoeijmakers , J H J , Yesodharan , D , Nampoothiri , S , Ogi , T , Lehmann , A R , Orioli , D & Vermeulen , W 2021 , ' Protein instability associated with ....

الاتاحة: https://research.vumc.nl/en/publications/2c371927-82d4-4354-a33d-ce4951fc17ad
https://doi.org/10.1093/hmg/ddab123
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85115957950&origin=inward
https://www.ncbi.nlm.nih.gov/pubmed/33909043

المؤلفون: Ravel, Jean-Marie, Dreumont, Natacha, Mosca, Pauline, Smith, Desiree E. C., Mendes, Marisa I., Wiedemann, Arnaud, Coelho, David, Schmitt, Emmanuelle, Rivière, Jean-Baptiste, Tran Mau-Them, Frédéric, Thevenon, Julien, Kuentz, Paul, Polivka, Marc, Fuchs, Sabine A., Kok, Gautam, Thauvin-Robinet, Christel, Guéant, Jean-Louis, Salomons, Gajja S., Faivre, Laurence, Feillet, François

المصدر: Ravel , J-M , Dreumont , N , Mosca , P , Smith , D E C , Mendes , M I , Wiedemann , A , Coelho , D , Schmitt , E , Rivière , J-B , Tran Mau-Them , F , Thevenon , J , Kuentz , P , Polivka , M , Fuchs , S A , Kok , G , Thauvin-Robinet , C , Guéant , J-L , Salomons , G S , Faivre , L & Feillet , F 2021 , ' A bi-allelic loss-of-function SARS1 variant in children with neurodevelopmental delay, deafness, ....

الاتاحة: https://research.vumc.nl/en/publications/ce873bd0-0564-48d4-9189-d2bacf3dcf12
https://doi.org/10.1002/humu.24285
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85116501009&origin=inward
https://www.ncbi.nlm.nih.gov/pubmed/34570399

المؤلفون: Helman, Guy, Mendes, Marisa I., Nicita, Francesco, Darbelli, Lama, Sherbini, Omar, Moore, Travis, Derksen, Alexa, Amy Pizzino, Carrozzo, Rosalba, Torraco, Alessandra, Catteruccia, Michela, Aiello, Chiara, Goffrini, Paola, Figuccia, Sonia, Smith, Desiree E.C., Hadzsiev, Kinga, Hahn, Andreas, Biskup, Saskia, Brösse, Ines, Kotzaeridou, Urania, Gauck, Darja, Grebe, Theresa A., Elmslie, Frances, Stals, Karen, Gupta, Rajat, Bertini, Enrico, Thiffault, Isabelle, Taft, Ryan J., Schiffmann, Raphael, Brandl, Ulrich, Haack, Tobias B., Salomons, Gajja S., Simons, Cas, Bernard, Geneviève, van der Knaap, Marjo S., Vanderver, Adeline, Husain, Ralf A.

المساهمون: National Health and Medical Research Council, Ministero della Salute, Deutsche Forschungsgemeinschaft

المصدر: Genetics in Medicine ; volume 23, issue 12, page 2352-2359 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1038/s41436-021-01286-8
https://www.nature.com/articles/s41436-021-01286-8.pdf
https://www.nature.com/articles/s41436-021-01286-8
https://api.elsevier.com/content/article/PII:S109836002105440X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S109836002105440X?httpAccept=text/plain

المؤلفون: Liepina, Lelde, Smith, Desiree E. C., Huidekoper, Hidde, Zeidler, Shimriet, Wamelink, Mirjam, de Wit, Marie‐Claire, Wilke, Martina, Ruijter, George, Bierau, Jörgen, Blom, Henk J.

المصدر: Journal of Inherited Metabolic Disease Reports; Mar2024, Vol. 65 Issue 2, p49-55, 7p