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1Book
المؤلفون: Dekker, Jordy
المصدر: Dekker , J 2024 , ' Neurodevelopmental disorders : From clinical phenotypes and genome analysis to gene function ' , Erasmus University Rotterdam , Rotterdam .
وصف الملف: application/pdf
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2Academic Journal
المؤلفون: Smits, Daphne J., Dekker, Jordy, Douben, Hannie, Schot, Rachel, Magee, Helen, Bakhtiari, Somayeh, Koehler, Katrin, Huebner, Angela, Schuelke, Markus, Darvish, Hossein, Vosoogh, Shohreh, Tafakhori, Abbas, Jameie, Melika, Taghiabadi, Ehsan, Wilson, Yana, Shah, Margit, van Slegtenhorst, Marjon A., Medici-van den Herik, Evita G., van Ham, Tjakko J., Kruer, Michael C., Mancini, Grazia M.S.
المصدر: Smits , D J , Dekker , J , Douben , H , Schot , R , Magee , H , Bakhtiari , S , Koehler , K , Huebner , A , Schuelke , M , Darvish , H , Vosoogh , S , Tafakhori , A , Jameie , M , Taghiabadi , E , Wilson , Y , Shah , M , van Slegtenhorst , M A , Medici-van den Herik , E G , van Ham , T J , Kruer , M C & Mancini , G M S 2024 , ' Biallelic NDC1 ....
وصف الملف: application/pdf
الاتاحة: https://pure.eur.nl/en/publications/daeeca54-1f0b-408e-b8b4-2010548ac76f
https://doi.org/10.1016/j.xhgg.2024.100327
https://pure.eur.nl/ws/files/165046790/Biallelic_NDC1_variants_that_interfere_with_ALADIN_binding_are_associated_with_neuropathy_and_triple_A-like_syndrome.pdf
http://www.scopus.com/inward/record.url?scp=85201270399&partnerID=8YFLogxK -
3Academic Journal
المؤلفون: Smits, Daphne J., Schot, Rachel, Krusy, Nathalie, Wiegmann, Katja, Utermöhlen, Olaf, Mulder, Monique T., den Hoedt, Sandra, Yoon, Grace, Deshwar, Ashish R., Kresge, Christina, Pletcher, Beth, van Mook, Maura, Ferreira, Marta Serio, Poot, Raymond A., Slotman, Johan A., Kremers, Gert Jan, Ahmad, Abeer, Albash, Buthaina, Bastaki, Laila, Marafi, Dana, Dekker, Jordy, van Ham, Tjakko J., Nguyen, Laurent, Mancini, Grazia M.S.
المصدر: Smits , D J , Schot , R , Krusy , N , Wiegmann , K , Utermöhlen , O , Mulder , M T , den Hoedt , S , Yoon , G , Deshwar , A R , Kresge , C , Pletcher , B , van Mook , M , Ferreira , M S , Poot , R A , Slotman , J A , Kremers , G J , Ahmad , A , Albash , B , Bastaki , L , Marafi , D , Dekker , J , van Ham , T J , ....
مصطلحات موضوعية: /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, name=SDG 3 - Good Health and Well-being
وصف الملف: application/pdf
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4Academic Journal
المؤلفون: Dekker, Jordy, Schot, Rachel, Bongaerts, Michiel, de Valk, Walter G, van Veghel-Plandsoen, Monique M, Monfils, Kathryn, Douben, Hannie, Elfferich, Peter, Kasteleijn, Esmee, van Unen, Leontine M A, Geeven, Geert, Saris, Jasper J, van Ierland, Yvette, Verheijen, Frans W, van der Sterre, Marianne L T, Sadeghi Niaraki, Farah, Smits, Daphne J, Huidekoper, Hidde H, Williams, Monique, Wilke, Martina, Verhoeven, Virginie J M, Joosten, Marieke, Kievit, Anneke J A, van de Laar, Ingrid M B H, Hoefsloot, Lies H, Hoogeveen-Westerveld, Marianne, Nellist, Mark, Mancini, Grazia M S, van Ham, Tjakko J
المصدر: Dekker , J , Schot , R , Bongaerts , M , de Valk , W G , van Veghel-Plandsoen , M M , Monfils , K , Douben , H , Elfferich , P , Kasteleijn , E , van Unen , L M A , Geeven , G , Saris , J J , van Ierland , Y , Verheijen , F W , van der Sterre , M L T , Sadeghi Niaraki , F , Smits , D J , Huidekoper , H H , Williams , M , Wilke , M , Verhoeven , ....
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5Academic Journal
المؤلفون: Smits, Daphne J., Dekker, Jordy, Schot, Rachel, Tabarki, Brahim, Alhashem, Amal, Demmers, Jeroen A.A., Dekkers, Dick H.W., Romito, Antonio, van der Spek, Peter J., van Ham, Tjakko J., Bertoli-Avella, Aida M., Mancini, Grazia M.S., Verrijzer, Peter
المصدر: Smits , D J , Dekker , J , Schot , R , Tabarki , B , Alhashem , A , Demmers , J A A , Dekkers , D H W , Romito , A , van der Spek , P J , van Ham , T J , Bertoli-Avella , A M , Mancini , G M S & Verrijzer , P 2023 , ' CLEC16A interacts with retromer and TRIM27, and its loss impairs endosomal trafficking and neurodevelopment ' , Human Genetics , vol. 142 , no. 3 , pp. 379-397 . https://doi.org/10.1007/s00439-022-02511-3
مصطلحات موضوعية: /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, name=SDG 3 - Good Health and Well-being
وصف الملف: application/pdf
الاتاحة: https://pure.eur.nl/en/publications/63d3e3ee-9cbe-4efb-b4c8-a8ec644931dc
https://doi.org/10.1007/s00439-022-02511-3
https://pure.eur.nl/ws/files/80183149/CLEC16A_interacts_with_retromer_and_TRIM27_and_its_loss_impairs_endosomal_trafficking_and_neurodevelopment.pdf
http://www.scopus.com/inward/record.url?scp=85144435617&partnerID=8YFLogxK -
6Academic Journal
المؤلفون: Mancini, Grazia M.S., Smits, Daphne J., Dekker, Jordy, Schot, Rachel, de Wit, Marie Claire Y., Lequin, Maarten H., Dremmen, Marjolein, Brooks, Alice S., van Ham, Tjakko, Verheijen, Frans W., Fornerod, Maarten, Dobyns, William B., Wilke, Martina
المساهمون: MS Radiologie, Circulatory Health
مصطلحات موضوعية: Cortical malformations, Exome sequencing, INTS1, MACF1, RNA-seq, SMPD4, Pediatrics, Perinatology, and Child Health, Clinical Neurology
وصف الملف: application/pdf
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7Academic Journal
المؤلفون: Dekker, Jordy, Diderich, Karin E.M., Schot, Rachel, Husen, Sofie C., Dremmen, Marjolein H.G., Go, Attie T.J.I., Weerts, Marjolein J.A., van Slegtenhorst, Marjon A., Mancini, Grazia M.S.
المصدر: Dekker , J , Diderich , K E M , Schot , R , Husen , S C , Dremmen , M H G , Go , A T J I , Weerts , M J A , van Slegtenhorst , M A & Mancini , G M S 2021 , ' A novel family illustrating the mild phenotypic spectrum of TUBB2B variants ' , European Journal of Paediatric Neurology , vol. 35 , pp. 35-39 . https://doi.org/10.1016/j.ejpn.2021.09.007
وصف الملف: application/pdf
الاتاحة: https://pure.eur.nl/en/publications/3810136a-8910-45ec-8dd2-3ca538948247
https://doi.org/10.1016/j.ejpn.2021.09.007
https://pure.eur.nl/ws/files/42745495/A_novel_family_illustrating_the_mild_phenotypic_spectrum_of_TUBB2B_variants.pdf
http://www.scopus.com/inward/record.url?scp=85116036206&partnerID=8YFLogxK -
8Academic Journal
المؤلفون: Kuil, Laura, Oosterhof, Nynke, Ferrero, G, Mikulasova, T, Hason, M, Dekker, Jordy, Rovira, M, Zondervan - van der Linde, Herma, Strien, Paulette, De Pater, Emma, Schaaf, Gerben, Bindels, Eric, Wittamerz, V, van Ham, Tjakko
المصدر: Kuil , L , Oosterhof , N , Ferrero , G , Mikulasova , T , Hason , M , Dekker , J , Rovira , M , Zondervan - van der Linde , H , Strien , P , De Pater , E , Schaaf , G , Bindels , E , Wittamerz , V & van Ham , T 2020 , ' Zebrafish macrophage developmental arrest underlies depletion of microglia and reveals Csf1r-independent metaphocytes ' , eLife , vol. 9 , e53403 . https://doi.org/10.7554/eLife.53403
مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCOR01, name=EMC OR-01
وصف الملف: application/pdf
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9Academic Journal
المؤلفون: Kuil, Laura E., Oosterhof, Nynke, Ferrero, Giuliano, Mikulášová, Tereza, Hason, Martina, Dekker, Jordy, Rovira, Mireia, van der Linde, Herma C, van Strien, Paulina Mh, de Pater, Emma, Schaaf, Gerben, Bindels, Erik Mj, Wittamer, Valérie, van Ham, Tjakko J
المصدر: eLife, 9
مصطلحات موضوعية: Sciences bio-médicales et agricoles, CSF1R, developmental biology, hematopoiesis, langerhans cells, macrophages, metaphocytes, microglia, zebrafish
وصف الملف: 1 full-text file(s): application/pdf
Relation: uri/info:doi/10.7554/eLife.53403; uri/info:pii/53403; uri/info:pmid/32367800; uri/info:scp/85085266245; uri/info:pmcid/PMC7237208; https://dipot.ulb.ac.be/dspace/bitstream/2013/305977/1/doi_289621.pdf; http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/305977
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10Academic Journal
المؤلفون: Smits, Daphne J, Schot, Rachel, Krusy, Nathalie, Wiegmann, Katja, Utermöhlen, Olaf, Mulder, Monique T, den Hoedt, Sandra, Yoon, Grace, Deshwar, Ashish R, Kresge, Christina, Pletcher, Beth, van Mook, Maura, Ferreira, Marta Serio, Poot, Raymond A, Slotman, Johan A, Kremers, Gert-Jan, Ahmad, Abeer, Albash, Buthaina, Bastaki, Laila, Marafi, Dana, Dekker, Jordy, van Ham, Tjakko J, Nguyen, Laurent, Mancini, Grazia M S
المصدر: Brain: a Journal of Neurology (2023-02-03)
مصطلحات موضوعية: SMPD4, insulin dependent diabetes, lipid homeostasis, microcephaly, nuclear envelope, Neurology (clinical), Human health sciences, Neurology, Sciences de la santé humaine, Neurologie
Relation: https://academic.oup.com/brain/advance-article-pdf/doi/10.1093/brain/awad033/49677737/awad033.pdf; https://doi.org/10.1093/brain/awad033; urn:issn:0006-8950; urn:issn:1460-2156
URL الوصول: https://orbi.uliege.be/handle/2268/304788
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11Electronic Resource
المؤلفون: MS Radiologie, Circulatory Health, Mancini, Grazia M.S., Smits, Daphne J., Dekker, Jordy, Schot, Rachel, de Wit, Marie Claire Y., Lequin, Maarten H., Dremmen, Marjolein, Brooks, Alice S., van Ham, Tjakko, Verheijen, Frans W., Fornerod, Maarten, Dobyns, William B., Wilke, Martina
URL:
https://doi.org/10.1016/j.ejpn.2021.09.006 http://hdl.handle.net/1874/444951 https://dspace.library.uu.nl/handle/1874/444951 http://www.scopus.com/inward/record.url?scp=85116017850&partnerID=8YFLogxK
1090-3798
European Journal of Paediatric Neurology
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12Academic Journal
المؤلفون: Abbott, Iain, van Gorp, Eric, Wijma, Rixt, Dekker, Jordy, Croughs, Peter, Meletiadis, J, Mouton, Johan, Peleg, AY
المصدر: Abbott , I , van Gorp , E , Wijma , R , Dekker , J , Croughs , P , Meletiadis , J , Mouton , J & Peleg , AY 2020 , ' Efficacy of single and multiple oral doses of fosfomycin against Pseudomonas aeruginosa urinary tract infections in a dynamic in vitro bladder infection model ' , The Journal of antimicrobial chemotherapy , vol. 75 , no. 7 , pp. 1879-1888 . https://doi.org/10.1093/jac/dkaa127
مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMM042801, name=EMC MM-04-28-01, /dk/atira/pure/keywords/researchprograms/AFL001000/EMCOR01, name=EMC OR-01
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13Academic Journal
المؤلفون: Abbott, Iain, Dekker, Jordy, van Gorp, E, Wijma, Rixt, Raaphorst, MN, Klaassen, Corné, Meletiadis, J, Mouton, Johan, Peleg, AY
المصدر: Abbott , I , Dekker , J , van Gorp , E , Wijma , R , Raaphorst , MN , Klaassen , C , Meletiadis , J , Mouton , J & Peleg , AY 2020 , ' Impact of bacterial species and baseline resistance on fosfomycin efficacy in urinary tract infections ' , The Journal of antimicrobial chemotherapy , vol. 75 , pp. 988-996 . https://doi.org/10.1093/jac/dkz519
مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMM042801, name=EMC MM-04-28-01, /dk/atira/pure/keywords/researchprograms/AFL001000/EMCOR01, name=EMC OR-01
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14
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15Academic Journal
المؤلفون: Abbott, Iain J, Gorp, Elke van, Wijma, Rixt A, Dekker, Jordy, Croughs, Peter D, Meletiadis, Joseph, Mouton, Johan W, Peleg, Anton Y, van Gorp, Elke
المصدر: Journal of Antimicrobial Chemotherapy (JAC); Jul2020, Vol. 75 Issue 7, p1879-1888, 10p
مصطلحات موضوعية: ANTIBIOTICS, RESEARCH, ACIDS, BLADDER, URINARY tract infections, RESEARCH methodology, MEDICAL cooperation, EVALUATION research, COMPARATIVE studies, PSEUDOMONAS diseases, PSEUDOMONAS, MICROBIAL sensitivity tests, PHARMACODYNAMICS
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16Academic Journal
المؤلفون: Abbott, Iain J, Dekker, Jordy, Gorp, Elke van, Wijma, Rixt A, Raaphorst, Merel N, Klaassen, Corné H W, Meletiadis, Joseph, Mouton, Johan W, Peleg, Anton Y, van Gorp, Elke
المصدر: Journal of Antimicrobial Chemotherapy (JAC); Apr2020, Vol. 75 Issue 4, p988-996, 9p
مصطلحات موضوعية: KLEBSIELLA infections, URINARY tract infections, KLEBSIELLA pneumoniae, ESCHERICHIA coli, KLEBSIELLA, RESEARCH, ACIDS, LIQUID chromatography, RESEARCH methodology, MEDICAL cooperation, EVALUATION research, COMPARATIVE studies, MASS spectrometry, IMPACT of Event Scale, ANTIBIOTICS, MICROBIAL sensitivity tests, PHARMACODYNAMICS