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1دورية أكاديمية
المؤلفون: Groeneweg, Jolijn W, Roze, Joline F, Peters, Edith D J, Sereno, Ferdinando, Brink, Anna G J, Paijens, Sterre T, Nijman, Hans W, van Meurs, Hannah S, van Lonkhuijzen, Luc R C W, Piek, Jurgen M J, Lok, Christianne A R, Monroe, Glen R, van Haaften, Gijs W, Zweemer, Ronald P
المساهمون: MS Gynaecologische Oncologie, Arts-assistenten DV&B, Genetica Groep Van Haaften, Cancer, Genetica Sectie Research, Child Health
مصطلحات موضوعية: Biomarker, FOXL2, Granulosa cell tumor, TERT, ctDNA, Oncology, Obstetrics and Gynaecology
وصف الملف: application/pdf
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2دورية أكاديمية
المؤلفون: Roze, Joline F, Kutzera, Joachim, Koole, Wouter, Ausems, Margreet G E M, Engelstad, Kristi, Piek, Jurgen M J, de Kroon, Cor D, Verheijen, René H M, van Haaften, Gijs, Zweemer, Ronald P, Monroe, Glen R
المساهمون: MS Gynaecologische Oncologie, CMM Groep De Ridder, Cancer, Genetica Sectie Genoomdiagnostiek, Child Health, Genetica Klinische Genetica, Genetica Sectie Research, Genetica Groep Van Haaften
مصطلحات موضوعية: FOXL2, Granulosa cell tumor, Ovarian cancer, Sex cord-stromal tumors, Whole-genome sequenc-ing, Oncology, Cancer Research, Journal Article
وصف الملف: application/pdf
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3دورية أكاديمية
المؤلفون: Roze, Joline F, van Meurs, Hannah S, Monroe, Glen R, Veldhuis, Wouter B, van Lonkhuijzen, Luc R C W, Bennink, Roel J, Groeneweg, Jolijn W, Witteveen, Petronella O, Jonges, Geertruida N, Zweemer, Ronald P, Braat, Arthur J A T
المساهمون: MS Gynaecologische Oncologie, Genetica Groep Van Haaften, MS Radiologie, Circulatory Health, Cancer, Arts-assistenten DV&B, MS Medische Oncologie, Pathologie Pathologen staf
مصطلحات موضوعية: 18F-fluoro-deoxyglucose ( F-FDG), 18F-fluoroestradiol ( F-FES), Granulosa cell tumors (GCTs), Hormone receptors, Positron emission tomography (PET), Oncology
وصف الملف: application/pdf
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4دورية أكاديمية
المؤلفون: Groeneweg, Jolijn W., Roze, Joline F., Peters, Edith D.J., Sereno, Ferdinando, Brink, Anna G.J., Paijens, Sterre T., Nijman, Hans W., van Meurs, Hannah S., van Lonkhuijzen, Luc R.C.W., Piek, Jurgen M.J., Lok, Christianne A.R., Monroe, Glen R., van Haaften, Gijs W., Zweemer, Ronald P.
المصدر: Gynecologic Oncology ; volume 162, issue 2, page 413-420 ; ISSN 0090-8258
مصطلحات موضوعية: Obstetrics and Gynecology, Oncology
الإتاحة: https://doi.org/10.1016/j.ygyno.2021.05.027Test
https://api.elsevier.com/content/article/PII:S0090825821004339?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0090825821004339?httpAccept=text/plainTest -
5دورية أكاديمية
المؤلفون: Wu, Xiaoyan, den Boer, Elise R, Vos-Loohuis, Manon, Monroe, Glen R, Nijman, Isaäc J, van Steenbeek, F.G., Leegwater, Peter A J, Fieten, Hille
المساهمون: Interne geneeskunde GD, dCSCA AVR, dCSCA RMSC-1, CS_Genetics
مصطلحات موضوعية: Wilson disease, Menkes disease, dog, copper, ATP7A, ATP7B, Labrador retriever, copper toxicosis, RETN
وصف الملف: application/pdf
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6دورية أكاديمية
المؤلفون: Stangl, Christina, de Blank, Sam, Renkens, Ivo, Westera, Liset, Verbeek, Tamara, Valle-Inclan, Jose Espejo, González, Rocio Chamorro, Henssen, Anton G., van Roosmalen, Markus J., Stam, Ronald W., Voest, Emile E., Kloosterman, Wigard P., van Haaften, Gijs, Monroe, Glen R.
المصدر: Nature Communications ; volume 11, issue 1 ; ISSN 2041-1723
مصطلحات موضوعية: General Physics and Astronomy, General Biochemistry, Genetics and Molecular Biology, General Chemistry, Multidisciplinary
الإتاحة: https://doi.org/10.1038/s41467-020-16641-7Test
https://www.nature.com/articles/s41467-020-16641-7.pdfTest
https://www.nature.com/articles/s41467-020-16641-7Test -
7دورية أكاديمية
المؤلفون: Monroe, Glen R., van Eerde, Albertien M., Tessadori, Federico, Duran, Karen J., Savelberg, Sanne M. C., van Alfen, Johanna C., Terhal, Paulien A., van der Crabben, Saskia N., Lichtenbelt, Klaske D., Fuchs, Sabine A., Gerrits, Johan, van Roosmalen, Markus J., van Gassen, Koen L., van Aalderen, Mirjam, Koot, Bart G., Oostendorp, Marlies, Duran, Marinus, Visser, Gepke, de Koning, Tom J., Calì, Francesco, Bosco, Paolo, Geleijns, Karin, de Sain-van der Velden, Monique G. M., Knoers, Nine V., Bakkers, Jeroen, Verhoeven-Duif, Nanda M., van Haaften, Gijs, Jans, Judith J.
المصدر: Monroe , G R , van Eerde , A M , Tessadori , F , Duran , K J , Savelberg , S M C , van Alfen , J C , Terhal , P A , van der Crabben , S N , Lichtenbelt , K D , Fuchs , S A , Gerrits , J , van Roosmalen , M J , van Gassen , K L , van Aalderen , M , Koot , B G , Oostendorp , M , Duran , M , Visser , G , de Koning , T J , Calì ....
الإتاحة: https://doi.org/10.1038/s41467-019-09458-6Test
https://research.vumc.nl/en/publications/6add71ff-6acd-46f2-88d1-75253ac5e178Test
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85063734330&origin=inwardTest
https://www.ncbi.nlm.nih.gov/pubmed/30931947Test -
8دورية أكاديمية
المؤلفون: Monroe, Glen R, van Eerde, Albertien M, Tessadori, Federico, Duran, Karen J, Savelberg, Sanne M C, van Alfen, Johanna C, Terhal, Paulien A, van der Crabben, Saskia N, Lichtenbelt, Klaske D, Fuchs, Sabine A, Gerrits, Johan, van Roosmalen, Markus J, van Gassen, Koen L, van Aalderen, Mirjam, Koot, Bart G, Oostendorp, Marlies, Duran, Marinus, Visser, Gepke, de Koning, Tom J, Calì, Francesco, Bosco, Paolo, Geleijns, Karin, de Sain-van der Velden, Monique G M, Knoers, Nine V, Bakkers, Jeroen, Verhoeven-Duif, Nanda M, van Haaften, Gijs, Jans, Judith J
المساهمون: MS Gynaecologische Oncologie, Circulatory Health, Genetica Klinische Genetica, Child Health, Genetica Groep Van Haaften, Metabole ziekten patientenzorg, Regenerative Medicine and Stem Cells, Genetica Sectie Metabole Diagnostiek, CMM Groep Kloosterman, Genetica Sectie Genoomdiagnostiek, LKCH Staf Patiëntenzorg, ZL Kinder Ner en Nec Medisch, Brain, Genetica, Medische Fysiologie, Cancer, CMM Sectie Genomics and Bioinformatics
مصطلحات موضوعية: Journal Article, Research Support, Non-U.S. Gov't
وصف الملف: image/pdf
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9دورية أكاديمية
المؤلفون: Roechert, Bernd, Van Hasselt, Peter M., Monroe, Glen R., Lai, Angeline Hwei Meeng, Ambusaidi Qamariya, Ambrozaitytė, Laima, Preikšaitienė, Eglė, Gueneau, Lucie, Tran-Mau-Them, Frédéric, Fish, Richard J., Shamseldin, Hanan E., Voisin, Norine, Allias, Fabienne, Jamuar Saumya Shekhar, Lim, J. Ying, Bonnard, Carine, Wright, Caroline F., Putoux, Audrey, Cimbalistienė, Loreta, Delafontaine, Julien, Guex, Nicolas, Hashem Mais, Kurdi Wesam, Pradervand, Sylvain, Reversade, Bruno, Xenarios, Ioannis, Lesca, Gaëtan, Pippucci, Tommaso, Wiederkehr, Michaël, Van Haaften, Gijs W., Shaw-Smith, Charles J., Schindewolf, Erica M., Reymond, Alexandre, Sanlaville, Damien, Guibaud, Laurent, Kučinskas, Vaidutis, Chelly, Jamel, Alkuraya, Fowzan S.
المساهمون: Lee Kong Chian School of Medicine (LKCMedicine)
مصطلحات موضوعية: Brain Malformations, Clubfoot, DRNTU::Science::Medicine
وصف الملف: 17 p.; application/pdf
العلاقة: The American Journal of Human Genetics; Gueneau, L., Fish, R. J., Shamseldin, H. E., Voisin, N., Mau-Them, F . T., Preiksaitiene, E., . . . Reymond, A. (2017). KIAA1109 variants are associated with a severe disorder of brain development and arthrogryposis. The American Journal of Human Genetics, 102(1), 116-132. doi:10.1016/j.ajhg.2017.12.002; https://hdl.handle.net/10356/104165Test; http://hdl.handle.net/10220/47895Test
الإتاحة: https://doi.org/10.1016/j.ajhg.2017.12.002Test
https://hdl.handle.net/10356/104165Test
http://hdl.handle.net/10220/47895Test -
10دورية أكاديمية
المؤلفون: Gueneau, Lucie, Fish, Richard J., Shamseldin, Hanan E., Voisin, Norine, Tran Mau-Them, Frederic, Preikšaitienė, Eglė, Monroe, Glen R., Lai, Angeline, Putoux, Audrey, Allias, Fabienne, Ambusaidi, Qamariya, Ambrozaitytė, Laima, Cimbalistienė, Loreta, Delafontaine, Julien, Guex, Nicolas, Hashem, Mais, Kurdi, Wesam, Jamuar, Saumya Shekhar, Ying, Lim J., Bonnard, Carine, Pippucci, Tommaso, Pradervand, Sylvain, Roechert, Bernd, van Hasselt, Peter M., Wiederkehr, Michael, Wright, Caroline F., Xenarios, Ioannis, van Haaften, Gijs, Shaw-Smith, Charles, Schindewolf, Erica M., Neerman-Arbez, Marguerite, Sanlaville, Damien, Lesca, Gaetan, Guibaud, Laurent, Reversade, Bruno, Chelly, Jamel, Kučinskas, Vaidutis, Alkuraya, Fowzan S., Reymond, Alexandre
المصدر: The American journal of human genetics., Cell Press, 2018, Vol. 102, p. 116-132. ; ISSN 0002-9297 ; eISSN 1537-6605
مصطلحات موضوعية: Arthrogryposis, brain malformations, cerebellar hypoplasia, clubfoot, hydrocephaly, whole-exome sequencing
وصف الملف: application/pdf
العلاقة: https://epublications.vu.lt/object/elaba:25231620/25231620.pdfTest; https://repository.vu.lt/VU:ELABAPDB25231620&prefLang=en_USTest