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1Academic Journal
المؤلفون: Moya Quiros, Vincent, Adham, Ahmed, Convers, Philippe, Lesca, Gaetan, Mauguiere, François, Soulier, Hugo, Arzimanoglou, Alexis, Bayat, Allan, Braakman, Hilde, Camdessanche, Jean Philippe, Casenave, Philippe, Chaton, Laurence, Chaix, Yves, Chochoi, Maxime, Depienne, Christel, Desportes, Vincent, De Ridder, Jessie, Dinkelacker, Vera, Gardella, Elena, Kluger, Gerhard J., Jung, Julien, Lemesle Martin, Martine, Mancardi, Maria Margherita, Mueller, Markus, Poulat, Anne Lise, Platzer, Konrad, Roubertie, Agathe, Stokman, Marijn F., Vulto-van Silfhout, Anneke T., Wiegand, Gert, Mazzola, Laure
المصدر: Moya Quiros , V , Adham , A , Convers , P , Lesca , G , Mauguiere , F , Soulier , H , Arzimanoglou , A , Bayat , A , Braakman , H , Camdessanche , J P , Casenave , P , Chaton , L , Chaix , Y , Chochoi , M , Depienne , C , Desportes , V , De Ridder , J , Dinkelacker , V , Gardella , E , Kluger , G J , Jung , J , Lemesle Martin , M , Mancardi , M M , Mueller ....
وصف الملف: application/pdf
الاتاحة: https://researchprofiles.ku.dk/da/publications/electroclinical-features-and-functional-connectivity-analysis-in-syn1related-epilepsy(d666ad9d-be6e-4e0f-9c97-6402b10bbe55).html
https://doi.org/10.1002/ana.27063
https://curis.ku.dk/ws/files/416567027/Annals_of_Neurology_2024_Moya_Quiros_Electro_Clinical_Features_and_Functional_Connectivity_Analysis_in_SYN1_Related.pdf -
2Academic Journal
المؤلفون: Dollfus, Hélène, Lilien, Marc R., Maffei, Pietro, Verloes, Alain, Muller, Jean, Bacci, Giacomo M., Cetiner, Metin, van den Akker, Erica L. T., Grudzinska Pechhacker, Monika, Testa, Francesco, Lacombe, Didier, Stokman, Marijn F., Simonelli, Francesca, Gouronc, Aurélie, Gavard, Amélie, van Haelst, Mieke M., Koenig, Jens, Rossignol, Sylvie, Bergmann, Carsten, Zacchia, Miriam, Leroy, Bart P., Mosbah, Héléna, Van Eerde, Albertien M., Mekahli, Djalila, Servais, Aude, Poitou, Christine, Valverde, Diana
المساهمون: Dollfus, Hélène, Lilien, Marc R., Maffei, Pietro, Verloes, Alain, Muller, Jean, Bacci, Giacomo M., Cetiner, Metin, van den Akker, Erica L. T., Grudzinska Pechhacker, Monika, Testa, Francesco, Lacombe, Didier, Stokman, Marijn F., Simonelli, Francesca, Gouronc, Aurélie, Gavard, Amélie, van Haelst, Mieke M., Koenig, Jen, Rossignol, Sylvie, Bergmann, Carsten, Zacchia, Miriam, Leroy, Bart P., Mosbah, Héléna, Van Eerde, Albertien M., Mekahli, Djalila, Servais, Aude, Poitou, Christine, Valverde, Diana
Relation: info:eu-repo/semantics/altIdentifier/pmid/39085583; info:eu-repo/semantics/altIdentifier/wos/WOS:001281335300001; journal:EUROPEAN JOURNAL OF HUMAN GENETICS; https://hdl.handle.net/11577/3536684
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3Academic Journal
المؤلفون: Knoppert, Sebastiaan N, Keijzer-Veen, Mandy G, Valentijn, Floris A, van den Heuvel-Eibrink, Marry M, Lilien, Marc R, van den Berg, Gerrit, Haveman, Lianne M, Stokman, Marijn F, Janssens, Geert O, van Kempen, Sven, Broekhuizen, Roel, Goldschmeding, Roel, Nguyen, Tri Q
المساهمون: Pathologie Opleiding, Cancer, Nefrologie patientenzorg, Child Health, Pathologie Groep Goldschmeding, Speerpunt, Zorg en O&O, Nefrologie, Genetica Klinische Genetica, MS Radiotherapie, Pathologie Weefselfaciliteit en archief, Pathologie Pathologen staf, Circulatory Health
مصطلحات موضوعية: chronic kidney disease, ifosfamide, cellular senescence, childhood cancer patients, karyomegalic interstitial nephropathy, DNA damage, Pathology and Forensic Medicine, Journal Article
وصف الملف: application/pdf
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4Academic Journal
المؤلفون: Stokman, Marijn F., Saunier, Sophie, Benmerah, Alexandre
المساهمون: Nierstichting, European Molecular Biology Organization, Koninklijke Nederlandse Akademie van Wetenschappen, Agence Nationale de la Recherche
المصدر: Frontiers in Cell and Developmental Biology ; volume 9 ; ISSN 2296-634X
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5Academic Journal
المؤلفون: Snoek, Rozemarijn, Stokman, Marijn F, Lichtenbelt, Klaske D, van Tilborg, Theodora C, Simcox, Cindy E, Paulussen, Aimée D C, Dreesen, Jos C M F, van Reekum, Franka, Lely, A Titia, Knoers, Nine V A M, de Die-Smulders, Christine E M, van Eerde, Albertien M
المساهمون: Genetica, Cancer, Genetica Klinische Genetica, Child Health, MS VPG/Gynaecologie, Infection & Immunity, MS Nefrologie, Circulatory Health, MS Verloskunde
مصطلحات موضوعية: ADPKD, Alport syndrome, Genetic Testing, Kidney Diseases, genetic renal disease, Critical Care and Intensive Care Medicine, Nephrology, Transplantation, Epidemiology, Journal Article
وصف الملف: application/pdf
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6Academic Journal
المؤلفون: Snoek, R, Stokman, Marijn F, Lichtenbelt, Klaske D, Simcox, Cindy E, Van Tilborg, Theodora C, Paulussen, Aimee D C, Dreessen, Jos C M F, Van Reekum, Franka, Knoers, Nine, De Die-Smulders, Christine, Van Eerde, Albertien M
المصدر: Nephrology Dialysis Transplantation ; volume 35, issue Supplement_3 ; ISSN 0931-0509 1460-2385
مصطلحات موضوعية: Transplantation, Nephrology
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7Electronic Resource
المؤلفون: Pathologie Opleiding, Cancer, Nefrologie patientenzorg, Child Health, Pathologie Groep Goldschmeding, Speerpunt, Zorg en O&O, Nefrologie, Genetica Klinische Genetica, MS Radiotherapie, Pathologie Weefselfaciliteit en archief, Pathologie Pathologen staf, Circulatory Health, Knoppert, Sebastiaan N, Keijzer-Veen, Mandy G, Valentijn, Floris A, van den Heuvel-Eibrink, Marry M, Lilien, Marc R, van den Berg, Gerrit, Haveman, Lianne M, Stokman, Marijn F, Janssens, Geert O, van Kempen, Sven, Broekhuizen, Roel, Goldschmeding, Roel, Nguyen, Tri Q
URL:
https://doi.org/10.1002/path.6202 http://hdl.handle.net/1874/450146 http://www.scopus.com/inward/record.url?scp=85173479010&partnerID=8YFLogxK
0022-3417
Journal of Pathology
261
4
455
464 -
8Academic Journal
المؤلفون: Stokman, Marijn F., Bijnsdorp, Irene V., Schelfhorst, Tim, Pham, Thang V., Piersma, Sander R., Knol, Jaco C., Giles, Rachel H., Bongers, Ernie M. H. F., Knoers, Nine V. A. M., Lilien, Marc R., Jiménez, Connie R., Renkema, Kirsten Y.
المصدر: Stokman , M F , Bijnsdorp , I V , Schelfhorst , T , Pham , T V , Piersma , S R , Knol , J C , Giles , R H , Bongers , E M H F , Knoers , N V A M , Lilien , M R , Jiménez , C R & Renkema , K Y 2019 , ' Changes in the urinary extracellular vesicle proteome are associated with nephronophthisis-related ciliopathies ' , Journal of Proteomics , vol. 192 , pp. 27-36 . https://doi.org/10.1016/j.jprot.2018.07.008
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9Academic Journal
المؤلفون: Reilly, Madeline Louise, Stokman, Marijn, F, Magry, Virginie, Jeanpierre, Cécile, Alves, Marine, Paydar, Mohammadjavad, Hellinga, Jacqueline, Delous, Marion, Pouly, Daniel, Failler, Marion, Martinovic, Jelena, Loeuillet, Laurence, Leroy, Brigitte, Tantau, Julia, Roume, Joëlle, Gregory-Evans, Cheryl, Shan, Xianghong, Filges, Isabel, Allingham, John, S, Kwok, Benjamin, H, Saunier, Sophie, Giles, Rachel, Benmerah, Alexandre
المساهمون: Laboratoire des Maladies Rénales Héréditaires, Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Paris Diderot - Paris 7 (UPD7), Universiteit Utrecht / Utrecht University Utrecht, Institut de Recherche en Immunologie et en Cancérologie UdeM-Montréal (IRIC), Université de Montréal (UdeM), Queen's University Kingston, Canada, Service de foetopathologie Béclère, Université Paris-Sud - Paris 11 (UP11)-AP-HP - Hôpital Antoine Béclère Clamart, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hopital Saint-Louis AP-HP (AP-HP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Stéroides et système nerveux : physiopathologie moléculaire et clinique, Université Paris-Sud - Paris 11 (UP11)-IFR93-Institut National de la Santé et de la Recherche Médicale (INSERM), Laboratoire Histologie Embryologie Cytogénétique CHU Necker, Hôpital Necker - Enfants Malades AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service d'Anatomie et de Cytologie Pathologiques Poissy, CHI Poissy-Saint-Germain, Service de génétique Poissy, University of British Columbia Canada (UBC), Université de Bâle = University of Basel = Basel Universität (Unibas), University Medical Center Utrecht (UMCU), This work was supported by the Fondation pour la Recherche Médicale (DEQ20130326532 to SS), the European Union’sSeventh Framework Programme (FP7/2007–2013) grant 305608 (EURenOmics, CJ), the GIS-Institut desMaladies Rares (AMA11025KSA to CJ and SS), the CIHR, NSERC, CCSRI, and FRQS (BK), the SwissNational Science Foundation (SNSF, IF), the Dutch Kidney Foundation KOUNCIL consortium(CP11.18). The Imagine Institute is supported by an ANR grant (ANR-A0-IAHU-01)., European Project: 305608,EC:FP7:HEALTH,FP7-HEALTH-2012-INNOVATION-1,EURENOMICS(2012)
المصدر: ISSN: 0964-6906.
مصطلحات موضوعية: [SDV.BC]Life Sciences [q-bio]/Cellular Biology, [SDV.BDD]Life Sciences [q-bio]/Development Biology, [SDV.GEN]Life Sciences [q-bio]/Genetics, [SDV.MHEP.UN]Life Sciences [q-bio]/Human health and pathology/Urology and Nephrology
Relation: info:eu-repo/semantics/altIdentifier/pmid/30388224; info:eu-repo/grantAgreement/EC/FP7/305608/EU/European Consortium for High-Throughput Research in Rare Kidney Diseases/EURENOMICS; PUBMED: 30388224; PUBMEDCENTRAL: PMC6381319
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10Academic Journal
المؤلفون: Stokman, Marijn F., van der Zwaag, Bert, van de Kar, Nicole C. A. J., van Haelst, Mieke M., van Eerde, Albertien M., van der Heijden, Joost W., Kroes, Hester Y., Ippel, Elly, Schulp, Annelien J. A., van Gassen, Koen L., van Rooij, Iris A. L. M., Giles, Rachel H., Beales, Philip L., Roepman, Ronald, Arts, Heleen H., Bongers, Ernie M. H. F., Renkema, Kirsten Y., Knoers, Nine V. A. M., van Reeuwijk, Jeroen, Lilien, Marc R.
المصدر: Stokman , M F , van der Zwaag , B , van de Kar , N C A J , van Haelst , M M , van Eerde , A M , van der Heijden , J W , Kroes , H Y , Ippel , E , Schulp , A J A , van Gassen , K L , van Rooij , I A L M , Giles , R H , Beales , P L , Roepman , R , Arts , H H , Bongers , E M H F , Renkema , K Y , ....
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11Academic Journal
المؤلفون: Keijzer-Veen, Mandy G., Knoppert, Sebastiaan, Valentijn, Floris, van den Heuvel-Eibrink, M.M., Berg, Gerrit V., Lilien, Marc, Haveman, Lianne M., Stokman, Marijn F., Janssens, Geert O., Broekhuizen, Roel, Goldschmeding, Roel, Nguyen, Tri Q.
المصدر: Journal of the American Society of Nephrology ; volume 33, issue 11S, page 378-379 ; ISSN 1046-6673
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12Academic Journal
المؤلفون: Monroe, Glen R, Kappen, Isabelle FPM, Stokman, Marijn F, Terhal, Paulien A, van den Boogaard, Marie-José H, Savelberg, Sanne MC, van der Veken, Lars T, van Es, Robert JJ, Lens, Susanne M, Hengeveld, Rutger C, Creton, Marijn A, Janssen, Nard G, Mink van der Molen, Aebele B, Ebbeling, Michelle B, Giles, Rachel H, Knoers, Nine V, van Haaften, Gijs
المصدر: European Journal of Human Genetics ; volume 24, issue 12, page 1752-1760 ; ISSN 1018-4813 1476-5438
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13Academic Journal
المؤلفون: Ajzenberg, Henry, Slaats, Gisela G, Stokman, Marijn F, Arts, Heleen H, Logister, Ive, Kroes, Hester Y, Renkema, Kirsten Y, van Haelst, Mieke M, Terhal, Paulien A, van Rooij, Iris A, Keijzer-Veen, Mandy G, Knoers, Nine V, Lilien, Marc R, Jewett, Michael A, Giles, Rachel H
المساهمون: Genetica, Regenerative Medicine and Stem Cells, Nefro Vasculaire Geneeskunde, Genetica Klinische Genetica, Child Health, Genetica Groep Van Tintelen, Nefrologie patientenzorg, Nefrologie
مصطلحات موضوعية: Journal Article
وصف الملف: image/pdf
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14Academic Journal
المؤلفون: Slaats, Gisela G., Ghosh, Amiya K., Falke, Lucas L., Le Corre, Stéphanie, Shaltiel, Indra A., van de Hoek, Glenn, Klasson, Timothy D., Stokman, Marijn F., Logister, Ive, Verhaar, Marianne C., Goldschmeding, Roel, Nguyen, Tri Q., Drummond, Iain A., Hildebrandt, Friedhelm, Giles, Rachel H.
المساهمون: Dutcher, Susan K.
المصدر: PLoS Genetics ; volume 10, issue 10, page e1004594 ; ISSN 1553-7404
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15Electronic Resource
المؤلفون: Genetica, Cancer, Genetica Klinische Genetica, Child Health, MS VPG/Gynaecologie, Infection & Immunity, MS Nefrologie, Circulatory Health, MS Verloskunde, Snoek, Rozemarijn, Stokman, Marijn F, Lichtenbelt, Klaske D, van Tilborg, Theodora C, Simcox, Cindy E, Paulussen, Aimée D C, Dreesen, Jos C M F, van Reekum, Franka, Lely, A Titia, Knoers, Nine V A M, de Die-Smulders, Christine E M, van Eerde, Albertien M
URL:
https://doi.org/10.2215/CJN.03550320 http://hdl.handle.net/1874/440396 https://dspace.library.uu.nl/handle/1874/440396 http://www.scopus.com/inward/record.url?scp=85090505402&partnerID=8YFLogxK
1555-9041
Clinical Journal of the American Society of Nephrology
15
9
1279
1286 -
16Electronic Resource
المؤلفون: Genetica, Genetica Klinische Genetica, Child Health, Circulatory Health, Regenerative Medicine and Stem Cells, Nefrologie, Genetica Sectie Research, Stokman, Marijn F., Bijnsdorp, Irene V., Schelfhorst, Tim, Pham, Thang V., Piersma, Sander R., Knol, Jaco C., Giles, Rachel H., Bongers, Ernie M.H.F., Knoers, Nine V.A.M., Lilien, Marc R., Jiménez, Connie R., Renkema, Kirsten Y.
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17Electronic Resource
المؤلفون: Child Health, Genetica Klinische Genetica, Genetica Sectie Genoomdiagnostiek, Circulatory Health, Regenerative Medicine and Stem Cells, Nefro Vasculaire Geneeskunde, CMM, Genetica Sectie Research, Genetica, Nefrologie, Stokman, Marijn F., van der Zwaag, Bert, van de Kar, Nicole C.A.J., van Haelst, Mieke M., van Eerde, Albertien M., van der Heijden, Joost W., Kroes, Hester Y., Ippel, Elly, Schulp, Annelien J.A., van Gassen, Koen L., van Rooij, Iris A.L.M., Giles, Rachel H., Beales, Philip L., Roepman, Ronald, Arts, Heleen H., Bongers, Ernie M.H.F., Renkema, Kirsten Y., Knoers, Nine V.A.M., van Reeuwijk, Jeroen, Lilien, Marc R.
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18Academic Journal
المؤلفون: Stokman, Marijn F, Oud, Machteld M, van Binsbergen, Ellen, Slaats, Gisela G, Nicolaou, Nayia, Renkema, Kirsten Y, Nijman, Isaac J, Roepman, Ronald, Giles, Rachel H, Arts, Heleen H, Knoers, Nine V A M, van Haelst, Mieke M
المصدر: Stokman , M F , Oud , M M , van Binsbergen , E , Slaats , G G , Nicolaou , N , Renkema , K Y , Nijman , I J , Roepman , R , Giles , R H , Arts , H H , Knoers , N V A M & van Haelst , M M 2016 , ' De novo 14q24.2q24.3 microdeletion including IFT43 is associated with intellectual disability, skeletal anomalies, cardiac anomalies, and myopia ' , American Journal of Medical Genetics Part A , vol. 170 , no. 6 , pp. 1566-9 . ....
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19Academic Journal
المؤلفون: Stokman, Marijn F., Renkema, Kirsten Y., Giles, Rachel H., Schaefer, Franz, Knoers, Nine V.A.M., Van Eerde, Albertien M.
المساهمون: Genetica Klinische Genetica, Child Health, Genetica Groep Van Tintelen, Nefro Vasculaire Geneeskunde, Regenerative Medicine and Stem Cells, Circulatory Health, Genetica
مصطلحات موضوعية: Journal Article, Review
وصف الملف: application/pdf
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20Academic Journal
المؤلفون: Stokman, Marijn F, Renkema, Kirsten Y, Giles, Rachel H, Schaefer, Franz, Knoers, Nine V A M, van Eerde, Albertien M
المصدر: Stokman , M F , Renkema , K Y , Giles , R H , Schaefer , F , Knoers , N V A M & van Eerde , A M 2016 , ' The expanding phenotypic spectra of kidney diseases : insights from genetic studies ' , Nature Reviews Nephrology , vol. 12 , no. 8 , pp. 472-483 . https://doi.org/10.1038/nrneph.2016.87 ; ISSN:1759-5061
مصطلحات موضوعية: Glomerulosclerosis, Focal Segmental/genetics, High-Throughput Nucleotide Sequencing, Humans, Kidney Diseases/classification, Mutation, Nephritis, Hereditary/genetics, Phenotype
الاتاحة: http://hdl.handle.net/11370/045af89b-c8ec-48cb-a35a-645d01474aed
https://research.rug.nl/en/publications/the-expanding-phenotypic-spectra-of-kidney-diseases(045af89b-c8ec-48cb-a35a-645d01474aed).html
https://doi.org/10.1038/nrneph.2016.87
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