المؤلفون: Gillis, Veerle E.L.M., Dalloyaux, Daisy, te Morsche, Rene H.M., van Ingen, Jakko, Sir, Özcan, Rovers, Chantal P., Wouters, Yannick, Wanten, Geert J.A.

المساهمون: Maag Lever Darm Stichting

المصدر: Journal of Microbiology, Immunology and Infection ; ISSN 1684-1182

الاتاحة: http://dx.doi.org/10.1016/j.jmii.2024.03.003
https://api.elsevier.com/content/article/PII:S1684118224000495?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1684118224000495?httpAccept=text/plain

المؤلفون: Mohamed, Miski, Gardeitchik, Thatjana, Balasubramaniam, Shanti, Guerrero‐Castillo, Sergio, Dalloyaux, Daisy, Kraaij, Sanne, Venselaar, Hanka, Hoischen, Alexander, Urban, Zsolt, Brandt, Ulrich, Al‐Shawi, Raya, Simons, J. Paul, Frison, Michele, Ngu, Lock‐Hock, Callewaert, Bert, Spelbrink, Hans, Kallemeijn, Wouter W., Aerts, Johannes M. F. G., Waugh, Mark G., Morava, Eva, Wevers, Ron A.

المصدر: JOURNAL OF INHERITED METABOLIC DISEASE ; ISSN: 0141-8955 ; ISSN: 1573-2665

مصطلحات موضوعية: Medicine and Health Sciences, Genetics(clinical), Genetics, choreoathetosis, cutis laxa, inborn error of metabolism, movement disorder, neurocutaneous disorder, neurometabolism, phosphatidyl inositol, GLUCOCEREBROSIDASE, MUTATIONS, TRAFFICKING, PTDINS(4)P

وصف الملف: application/pdf

Relation: https://biblio.ugent.be/publication/8686020; http://hdl.handle.net/1854/LU-8686020; http://dx.doi.org/10.1002/jimd.12255; https://biblio.ugent.be/publication/8686020/file/8686022

الاتاحة: https://biblio.ugent.be/publication/8686020
http://hdl.handle.net/1854/LU-8686020
https://doi.org/10.1002/jimd.12255
https://biblio.ugent.be/publication/8686020/file/8686022

المؤلفون: Van Damme, Tim, Gardeitchik, Thatjana, Mohamed, Miski, Guerrero-Castillo, Sergio, Freisinger, Peter, Guillemyn, Brecht, Kariminejad, Ariana, Dalloyaux, Daisy, van Kraaij, Sanne, Lefeber, Dirk J., Syx, Delfien, Steyaert, Wouter, De Rycke, Riet, Hoischen, Alexander, Kamsteeg, Erik-Jan, Wong, Sunnie Y., van Scherpenzeel, Monique, Jamali, Payman, Brandt, Ulrich, Nijtmans, Leo, Korenke, G. Christoph, Chung, Brian H.Y., Mak, Christopher C.Y., Hausser, Ingrid, Kornak, Uwe, Fischer-Zirnsak, Björn, Strom, Tim M., Meitinger, Thomas, Alanay, Yasemin, Utine, Gulen E., Leung, Kai Ching Peter, Ghaderi-Sohi, Siavash, Coucke, Paul, Symoens, Sofie, De Paepe, Anne, Thiel, Christian, Haack, Tobias B., Malfait, Fransiska, Morava, Eva, Callewaert, Bert, Wevers, Ron A.

المصدر: The American Journal of Human Genetics ; volume 107, issue 2, page 374 ; ISSN 0002-9297

الاتاحة: https://doi.org/10.1016/j.ajhg.2020.07.013
https://api.elsevier.com/content/article/PII:S0002929720302433?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929720302433?httpAccept=text/plain

المؤلفون: Wouters, Yannick, Dalloyaux, Daisy, Christenhusz, Anke, Roelofs, Hennie M. J., Wertheim, Heiman F., Bleeker‐Rovers, Chantal P., te Morsche, René H., Wanten, Geert J. A.

المصدر: Microbial Biotechnology ; volume 13, issue 3, page 657-668 ; ISSN 1751-7915 1751-7915

الاتاحة: http://dx.doi.org/10.1111/1751-7915.13491
https://onlinelibrary.wiley.com/doi/pdf/10.1111/1751-7915.13491
https://onlinelibrary.wiley.com/doi/full-xml/10.1111/1751-7915.13491

المؤلفون: Gardeitchik, Thatjana, Mohamed, Miski, Ruzzenente, Benedetta, Karall, Daniela, Guerrero-Castillo, Sergio, Dalloyaux, Daisy, van den Brand, Mariël, van Kraaij, Sanne, van Asbeck, Ellyze, Assouline, Zahra, Rio, Marlene, de Lonlay, Pascale, Scholl-Buergi, Sabine, Wolthuis, David F.G.J., Hoischen, Alexander, Rodenburg, Richard J., Sperl, Wolfgang, Urban, Zsolt, Brandt, Ulrich, Mayr, Johannes A., Wong, Sunnie, de Brouwer, Arjan P.M., Nijtmans, Leo, Munnich, Arnold, Rötig, Agnès, Wevers, Ron A., Metodiev, Metodi D., Morava, Eva

المساهمون: Dutch Metakids foundation, Netherlands Organisation for Scientific Research, NWO, E-Rare project GENOMIT, National Institutes of Health, Association Français contre les Myopathies

المصدر: The American Journal of Human Genetics ; volume 102, issue 4, page 685-695 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2018.02.012
https://api.elsevier.com/content/article/PII:S0002929718300570?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929718300570?httpAccept=text/plain

المؤلفون: Van Damme, Tim, Gardeitchik, Thatjana, Mohamed, Miski, Guerrero-Castillo, Sergio, Freisinger, Peter, Guillemyn, Brecht, Kariminejad, Ariana, Dalloyaux, Daisy, Van Kraaij, Sanne, Lefeber, Dirk J., Syx, Delfien, Steyaert, Wouter, De Rycke, Riet, Hoischen, Alexander, Kamsteeg, Erik-Jan, Wong, Sunnie Y., van Scherpenzeel, Monique, Jamali, Payman, Brandt, Ulrich, Nijtmans, Leo, Korenke, G. Christoph, Chung, Brian H. Y., Mak, Christopher C. Y., Hausser, Ingrid, Kornak, Uwe, Fischer-Zirnsak, Bjorn, Strom, Tim M., Meitinger, Thomas, Alanay, Yasemin, Utine, Gulen E., Leung, Peter K. C., Ghaderi-Sohi, Siavash, Coucke, Paul, Symoens, Sofie, De Paepe, Anne, Thiel, Christian, Haack, Tobias B., Malfait, Fransiska, Morava, Eva, Callewaert, Bert, Wevers, Ron A.

المساهمون: Çocuk Sağlığı ve Hastalıkları

مصطلحات موضوعية: Genetics & Heredity

وصف الملف: text/plain

Relation: American Journal Of Human Genetics; https://doi.org/10.1016/j.ajhg.2016.12.010; http://hdl.handle.net/11655/14177; 100; 216; 227

الاتاحة: http://hdl.handle.net/11655/14177
https://doi.org/10.1016/j.ajhg.2016.12.010

المؤلفون: Duijzer, Renée¹ (AUTHOR), Dalloyaux, Daisy¹ (AUTHOR), Boerrigter, Melissa M.² (AUTHOR), Lemmers, Heidi³ (AUTHOR), Dijkstra, Helga³ (AUTHOR), van Emst, Liesbeth³ (AUTHOR), te Morsche, René H.M.¹ (AUTHOR), Jaeger, Martin⁴ (AUTHOR), Joosten, Leo A.B.^5,6 (AUTHOR), Drenth, Joost P.H.^1,7,8 (AUTHOR) joostphdrenth@cs.com

المصدر: Cytokine. Dec2024, Vol. 184, pN.PAG-N.PAG. 1p.

مصطلحات موضوعية: *POLYCYSTIC kidney disease, *MONONUCLEAR leukocytes, *ESCHERICHIA coli, *LIVER cells, *IMMUNE response

المؤلفون: Wouters, Yannick, Dalloyaux, Daisy, Christenhusz, Anke, Roelofs, Hennie M. J., Wertheim, Heiman F., Bleeker‐Rovers, Chantal P., Morsche, René H., Wanten, Geert J. A.

المصدر: Microbial Biotechnology; May2020, Vol. 13 Issue 3, p657-668, 12p

مصطلحات موضوعية: POLYMERASE chain reaction, GRAM'S stain, NUCLEOTIDE sequence, DIAGNOSTIC use of polymerase chain reaction, DETECTION limit