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1Academic Journal
المؤلفون: van der Laan, Liselot, Silva, Ananília, Kleinendorst, Lotte, Rooney, Kathleen, Haghshenas, Sadegheh, Lauffer, Peter, Alanay, Yasemin, Bhai, Pratibha, Brusco, Alfredo, de Munnik, Sonja, de Vries, Bert B.A., Vega, Angelica Delgado, Engelen, Marc, Herkert, Johanna C., Hochstenbach, Ron, Hopman, Saskia, Kant, Sarina G., Kira, Ryutaro, Kato, Mitsuhiro, Keren, Boris, Kroes, Hester Y., Levy, Michael A., Lock-Hock, Ngu, Maas, Saskia M., Mancini, Grazia M.S., Marcelis, Carlo, Matsumoto, Naomichi, Mizuguchi, Takeshi, Mussa, Alessandro, Mignot, Cyril, Närhi, Anu, Nordgren, Ann, Pfundt, Rolph, Polstra, Abeltje M., Trajkova, Slavica, van Bever, Yolande, José van den Boogaard, Marie, van der Smagt, Jasper J., Barakat, Tahsin Stefan, Alders, Mariëlle, Mannens, Marcel M.A.M., Sadikovic, Bekim, van Haelst, Mieke M., Henneman, Peter
المصدر: van der Laan , L , Silva , A , Kleinendorst , L , Rooney , K , Haghshenas , S , Lauffer , P , Alanay , Y , Bhai , P , Brusco , A , de Munnik , S , de Vries , B B A , Vega , A D , Engelen , M , Herkert , J C , Hochstenbach , R , Hopman , S , Kant , S G , Kira , R , Kato , M , Keren , B , Kroes , H Y , Levy , M A , ....
وصف الملف: application/pdf
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2Academic Journal
المؤلفون: van der Laan, Liselot, Lauffer, Peter, Rooney, Kathleen, Silva, Ananília, Haghshenas, Sadegheh, Relator, Raissa, Levy, Michael A., Trajkova, Slavica, Huisman, Sylvia A., Bijlsma, Emilia K., Kleefstra, Tjitske, Van Bon, Bregje W., Baysal, Özlem, Zweier, Christiane, Palomares-Bralo, María, Fischer, Jan, Szakszon, Katalin, Faivre, Laurence, Piton, Amélie, Mesman, Simone, Hochstenbach, Ron, Elting, Mariet W., van Hagen, Johanna M., Plomp, Astrid, Mannens, Marcel M., Alders, Mariëlle, van Haelst, Mieke M., Ferrero, Giovanni B., Brusco, Alfredo, Henneman, Peter, Sweetser, David A., Sadikovic, Bekim, Vitobello, Antonio, Menke, Leonie A.
مصطلحات موضوعية: Orvostudományok, Klinikai orvostudományok
وصف الملف: application/pdf
Relation: https://hdl.handle.net/2437/370348; https://ebib.lib.unideb.hu/ebib/CorvinaWeb?action=cclfind&resultview=long&ccltext=idno+BIBFORM121419; https://linkinghub.elsevier.com/retrieve/pii/S2666247724000289; http://dx.doi.org/10.1016/j.xhgg.2024.100289
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3Academic Journal
المؤلفون: van der Laan, Liselot, Silva, Ananília, Kleinendorst, Lotte, Rooney, Kathleen, Haghshenas, Sadegheh, Lauffer, Peter, Alanay, Yasemin, Bhai, Pratibha, Brusco, Alfredo, de Munnik, Sonja, de Vries, Bert B.A., Vega, Angelica Delgado, Engelen, Marc, Herkert, Johanna C., Hochstenbach, Ron, Hopman, Saskia, Kant, Sarina G., Kira, Ryutaro, Kato, Mitsuhiro, Keren, Boris, Kroes, Hester Y., Levy, Michael A., Lock-Hock, Ngu, Maas, Saskia M., Mancini, Grazia M.S., Marcelis, Carlo, Matsumoto, Naomichi, Mizuguchi, Takeshi, Mussa, Alessandro, Mignot, Cyril, Närhi, Anu, Nordgren, Ann, Pfundt, Rolph, Polstra, Abeltje M., Trajkova, Slavica, van Bever, Yolande, José van den Boogaard, Marie, van der Smagt, Jasper J., Barakat, Tahsin Stefan, Alders, Mariëlle, Mannens, Marcel M.A.M., Sadikovic, Bekim, van Haelst, Mieke M., Henneman, Peter
المساهمون: HUSLAB, Department of Medical and Clinical Genetics, HUS Helsinki and Uusimaa Hospital District
مصطلحات موضوعية: CUL3, DNA methylation, episignature, genotype-phenotype correlation, intellectual disability, NEDAUS, Biomedicine, Genetics, developmental biology, physiology
وصف الملف: application/pdf
Relation: We would like to thank the participants described in this study. Funding for this study was provided in part by the Government of Canada through Genome Canada and the Ontario Genomics Institute (OGI-188) . L.v.d.L. received the AR&D Travel Grant from Amsterdam UMC, which provided financial support for this work. T.S.B. was supported by the Netherlands Organisation for Scientific Research (ZonMw Vidi, grant 09150172110002) and acknowledges ongoing support from EpilepsieNL and CURE Epilepsy. N.M. and T.M. were supported by the Takeda Science Foundation, with additional support for T.M. from JSPS KAKENHI under grant nos. JP23K27568 and JP23K18278.; http://hdl.handle.net/10138/588621; 85209580203; 001364279900001
الاتاحة: http://hdl.handle.net/10138/588621
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4Academic Journal
المؤلفون: Haghshenas, Sadegheh, Bout, Hidde J., Schijns, Josephine M., Levy, Michael A., Kerkhof, Jennifer, Bhai, Pratibha, McConkey, Haley, Jenkins, Zandra A., Williams, Ella M., Halliday, Benjamin J., Huisman, Sylvia A., Lauffer, Peter, de Waard, Vivian, Witteveen, Laura, Banka, Siddharth, Brady, Angela F., Galazzi, Elena, van Gils, Julien, Hurst, Anna C.E., Kaiser, Frank J., Lacombe, Didier, Martinez-Monseny, Antonio F., Fergelot, Patricia, Monteiro, Fabíola P., Parenti, Ilaria, Persani, Luca, Santos-Simarro, Fernando, Simpson, Brittany N., Alders, Mariëlle, Robertson, Stephen P., Sadikovic, Bekim, Menke, Leonie A.
المصدر: Human Genetics and Genomics Advances ; volume 5, issue 4, page 100337 ; ISSN 2666-2477
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5Academic Journal
المؤلفون: Kleinendorst, Lotte, Abawi, Ozair, Vos, Niels, van der Valk, Eline S., Maas, Saskia M., Morgan, Angela T., Hildebrand, Michael S., da Silva, Jorge D., Florijn, Ralph J., Lauffer, Peter, Visser, Jenny A., van Rossum, Elisabeth F. C., van den Akker, Erica L. T., van Haelst, Mieke M.
المصدر: Kleinendorst , L , Abawi , O , Vos , N , van der Valk , E S , Maas , S M , Morgan , A T , Hildebrand , M S , da Silva , J D , Florijn , R J , Lauffer , P , Visser , J A , van Rossum , E F C , van den Akker , E L T & van Haelst , M M 2024 , ' GNB1 and obesity : Evidence for a correlation between haploinsufficiency and syndromic obesity ' , Clinical obesity , vol. 14 , no. ....
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6Academic Journal
المؤلفون: van der Laan, Liselot, Karimi, Karim, Rooney, Kathleen, Lauffer, Peter, McConkey, Haley, Caro, Pilar, Relator, Raissa, Levy, Michael A., Bhai, Pratibha, Mignot, Cyril, Keren, Boris, Briuglia, Silvana, Sobering, Andrew K., Li, Dong, Vissers, Lisenka E. L. M., Dingemans, Alexander J. M., Valenzuela, Irene, Verberne, Eline A., Misra-Isrie, Mala, Zwijnenburg, Petra J. G., Waisfisz, Quinten, Alders, Mariëlle, Sailer, Sebastian, Schaaf, Christian P., Mannens, Marcel M. A. M., Sadikovic, Bekim, van Haelst, Mieke M., Henneman, Peter
المصدر: van der Laan , L , Karimi , K , Rooney , K , Lauffer , P , McConkey , H , Caro , P , Relator , R , Levy , M A , Bhai , P , Mignot , C , Keren , B , Briuglia , S , Sobering , A K , Li , D , Vissers , L E L M , Dingemans , A J M , Valenzuela , I , Verberne , E A , Misra-Isrie , M , Zwijnenburg , P J G , Waisfisz , Q , Alders , M ....
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7Academic Journal
المؤلفون: van der Laan, Liselot, Lauffer, Peter, Rooney, Kathleen, Silva, Ananília, Haghshenas, Sadegheh, Relator, Raissa, Levy, Michael A, Trajkova, Slavica, Huisman, Sylvia A, Bijlsma, Emilia K, Kleefstra, Tjitske, van Bon, Bregje W, Baysal, Özlem, Zweier, Christiane, Palomares-Bralo, María, Fischer, Jan, Szakszon, Katalin, Faivre, Laurence, Piton, Amélie, Mesman, Simone, Hochstenbach, Ron, Elting, Mariet W, van Hagen, Johanna M, Plomp, Astrid S, Mannens, Marcel M A M, Alders, Mariëlle, van Haelst, Mieke M, Ferrero, Giovanni B, Brusco, Alfredo, Henneman, Peter, Sweetser, David A, Sadikovic, Bekim, Vitobello, Antonio, Menke, Leonie A
المصدر: van der Laan, Liselot; Lauffer, Peter; Rooney, Kathleen; Silva, Ananília; Haghshenas, Sadegheh; Relator, Raissa; Levy, Michael A; Trajkova, Slavica; Huisman, Sylvia A; Bijlsma, Emilia K; Kleefstra, Tjitske; van Bon, Bregje W; Baysal, Özlem; Zweier, Christiane; Palomares-Bralo, María; Fischer, Jan; Szakszon, Katalin; Faivre, Laurence; Piton, Amélie; Mesman, Simone; . (2024). DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants. (In Press). HGG advances, 5(3), p. 100289. Elsevier 10.1016/j.xhgg.2024.100289
مصطلحات موضوعية: 610 Medicine & health
وصف الملف: application/pdf
Relation: https://boris.unibe.ch/195669/
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8Academic Journal
المؤلفون: Rooney, Kathleen, van der Laan, Liselot, Trajkova, Slavica, Haghshenas, Sadegheh, Relator, Raissa, Lauffer, Peter, Vos, Niels, Levy, Michael A, Brunetti-Pierri, Nicola, Terrone, Gaetano, Mignot, Cyril, Keren, Boris, Billette de Villemeur, Thierry, Volker-Touw, Catharina M L, Verbeek, Nienke, van der Smagt, Jasper J, Oegema, Renske, Brusco, Alfredo, Ferrero, Giovanni Battista, Misra-Isrie, Mala, Hochstenbach, Ron, Alders, Mariëlle, Mannens, Marcel M A M, Sadikovic, Bekim, van Haelst, Mieke M, Henneman, Peter
المساهمون: Rooney, Kathleen, van der Laan, Liselot, Trajkova, Slavica, Haghshenas, Sadegheh, Relator, Raissa, Lauffer, Peter, Vos, Niel, Levy, Michael A, Brunetti-Pierri, Nicola, Terrone, Gaetano, Mignot, Cyril, Keren, Bori, Billette de Villemeur, Thierry, Volker-Touw, Catharina M L, Verbeek, Nienke, van der Smagt, Jasper J, Oegema, Renske, Brusco, Alfredo, Ferrero, Giovanni Battista, Misra-Isrie, Mala, Hochstenbach, Ron, Alders, Mariëlle, Mannens, Marcel M A M, Sadikovic, Bekim, van Haelst, Mieke M, Henneman, Peter
مصطلحات موضوعية: CNV, DNA methylation, Epigenetic, Epilepsy, Episignature, HNRNPU, Intellectual disability, Neurodevelopmental Disorder
Relation: info:eu-repo/semantics/altIdentifier/pmid/37120726; firstpage:100871; lastpage:100871; numberofpages:1; journal:GENETICS IN MEDICINE; https://hdl.handle.net/2318/1903993; https://www.gimjournal.org/article/S1098-3600(23)00884-5/pdf
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9Academic Journal
المؤلفون: Krzyzewska, Izabela M., Lauffer, Peter, Mul, Adri N., van der Laan, Liselot, Yim, Andrew Y. F. Li, Cobben, Jan Maarten, Niklinski, Jacek, Chomczyk, Monika A., Smigiel, Robert, Mannens, Marcel M. A. M., Henneman, Peter
المصدر: Krzyzewska , I M , Lauffer , P , Mul , A N , van der Laan , L , Yim , A Y F L , Cobben , J M , Niklinski , J , Chomczyk , M A , Smigiel , R , Mannens , M M A M & Henneman , P 2023 , ' Expression Quantitative Trait Methylation Analysis Identifies Whole Blood Molecular Footprint in Fetal Alcohol Spectrum Disorder (FASD) ' , International Journal of Molecular Sciences , vol. 24 , no. 7 , 6601 . https://doi.org/10.3390/ijms24076601
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10Academic Journal
المؤلفون: Lauffer, Peter, Pals, Gerard, Zwinderman, Aeilko H., Postema, Floor A. M., Baars, Marieke J. H., Dulfer, Eelco, Hilhorst-Hofstee, Yvonne, Houweling, Arjan C., Kempers, Marlies, Krapels, Ingrid P. C., van de Laar, Ingrid M. B. H., Loeys, Bart, Spaans, Alexander M. J., Warnink-Kavelaars, Jessica, de Waard, Vivian, Wit, Jan M., Menke, Leonie A.
المصدر: Lauffer , P , Pals , G , Zwinderman , A H , Postema , F A M , Baars , M J H , Dulfer , E , Hilhorst-Hofstee , Y , Houweling , A C , Kempers , M , Krapels , I P C , van de Laar , I M B H , Loeys , B , Spaans , A M J , Warnink-Kavelaars , J , de Waard , V , Wit , J M & Menke , L A 2023 , ' Growth charts for Marfan syndrome in the Netherlands and analysis of ....
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11Academic Journal
المؤلفون: van der Laan, Liselot, Rooney, Kathleen, Alders, Mariëlle, Relator, Raissa, Mcconkey, Haley, Kerkhof, Jennifer, Levy, Michael, A, Lauffer, Peter, Aerden, Mio, Theunis, Miel, Legius, Eric, Tedder, Matthew, L, Vissers, Lisenka, E L M, Koene, Saskia, Ruivenkamp, Claudia, Hoffer, Mariette, J V, Wieczorek, Dagmar, Bramswig, Nuria, C, Herget, Theresia, González, Vanesa, López, Santos-Simarro, Fernando, Tørring, Pernille, M, Denomme-Pichon, Anne-Sophie, Isidor, Bertrand, Keren, Boris, Julia, Sophie, Schaefer, Elise, Francannet, Christine, Maillard, Pierre-Yves, Misra-Isrie, Mala, van Esch, Hilde, Mannens, Marcel, M a M, Sadikovic, Bekim, van Haelst, Mieke, M, Henneman, Peter
المساهمون: Amsterdam University Medical Centers (Amsterdam UMC), Western University London, ON, Canada, Amsterdam UMC - Amsterdam University Medical Center, Emma Children’s Hospital, Centre for Human Genetics, University Hospitals Leuven, Catholic University of Leuven, The Greenwood Genetic Center, Radboud University Medical Center Nijmegen, Department of Clinical Genetics (Leiden University Medical Center), Leiden University Medical Center (LUMC), Universiteit Leiden = Leiden University -Universiteit Leiden = Leiden University, Heinrich Heine Universität Düsseldorf = Heinrich Heine University Düsseldorf, Universitaetsklinikum Hamburg-Eppendorf = University Medical Center Hamburg-Eppendorf Hamburg (UKE), Hospital Clínico Universitario Virgen de la Arrixaca = University Hospital Virgen de la Arrixaca Murcia, Hospital Universitario La Paz, Odense University Hospital (OUH), Unité fonctionnelle d' Innovation en Diagnostic Génomique des Maladies Rares (CHU Dijon) (UF6254), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Service de génétique médicale CHU Nantes, Centre hospitalier universitaire de Nantes (CHU Nantes), Sorbonne Université (SU), Centre d'Epidémiologie et de Recherche en santé des POPulations (CERPOP), Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service Génétique Médicale CHU Toulouse, Institut Fédératif de Biologie (IFB), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Pôle Biologie CHU Toulouse, Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Service de Génétique Médicale CHU Clermont-Ferrand, CHU Estaing Clermont-Ferrand, CHU Clermont-Ferrand-CHU Clermont-Ferrand, Institut Jérôme Lejeune
المصدر: ISSN: 1661-6596.
مصطلحات موضوعية: TRIP12, Clark–Baraitser syndrome, intellectual disability, DNA methylation, episignature, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Relation: info:eu-repo/semantics/altIdentifier/pmid/36430143; hal-04098955; https://hal.science/hal-04098955; https://hal.science/hal-04098955/document; https://hal.science/hal-04098955/file/VanderLaan-2022.pdf; PUBMED: 36430143
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12Academic Journal
المؤلفون: Joustra, Vincent, Li Yim, Andrew Y F, van Gennep, Sara, Hageman, Ishtu, de Waard, Tristan, Levin, Evgeni, Lauffer, Peter, de Jonge, Wouter, Henneman, Peter, Löwenberg, Mark, D’Haens, Geert
المساهمون: Helmsley Foundation, Pfizer
المصدر: Journal of Crohn's and Colitis ; ISSN 1873-9946 1876-4479
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13
المؤلفون: Lauffer, Peter
المصدر: kostenfrei.
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14Academic Journal
المؤلفون: Hu, Yalan, Lauffer, Peter, Stewart, Michelle, Codner, Gemma, Mayerl, Steffen, Heuer, Heike, Ng, Lily, Forrest, Douglas, van Trotsenburg, Paul, Jongejan, Aldo, Fliers, Eric, Hennekam, Raoul, Boelen, Anita
المصدر: Hu , Y , Lauffer , P , Stewart , M , Codner , G , Mayerl , S , Heuer , H , Ng , L , Forrest , D , van Trotsenburg , P , Jongejan , A , Fliers , E , Hennekam , R & Boelen , A 2022 , ' An animal model for Pierpont syndrome : a mouse bearing the Tbl1xr1Y446C/Y446C mutation ' , Human Molecular Genetics , vol. 31 , no. 17 , pp. 2951-2963 . https://doi.org/10.1093/hmg/ddac086
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15Academic Journal
المؤلفون: Lauffer, Peter, Boudin, Eveline, Van Der Kaay, Daniëlle C.M., Koene, Saskia, Van Haeringen, Arie, Van Tellingen, Vera, Van Hul, Wim, Prickett, Timothy C.R., Mortier, Geert, Espiner, Eric A., Van Duyvenvoorde, Hermine A.
المصدر: Lauffer , P , Boudin , E , Van Der Kaay , D C M , Koene , S , Van Haeringen , A , Van Tellingen , V , Van Hul , W , Prickett , T C R , Mortier , G , Espiner , E A & Van Duyvenvoorde , H A 2022 , ' Broadening the Spectrum of Loss-of-Function Variants in NPR-C-Related Extreme Tall Stature ' , Journal of the Endocrine Society , vol. 6 , no. 4 , bvac019 . https://doi.org/10.1210/jendso/bvac019
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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16Academic Journal
المؤلفون: Joustra, Vincent, Yim, Andrew Y F Li, Gennep, Sara van, Hageman, Ishtu, Waard, Tristan de, Levin, Evgeni, Lauffer, Peter, Jonge, Wouter de, Henneman, Peter, Löwenberg, Mark, D'Haens, Geert
المصدر: Journal of Crohn's & Colitis; Aug2024, Vol. 18 Issue 8, p1179-1189, 11p
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17Academic Journal
المؤلفون: Kleinendorst, Lotte, Abawi, Ozair, Vos, Niels, van der Valk, Eline S., Maas, Saskia M., Morgan, Angela T., Hildebrand, Michael S., Da Silva, Jorge D., Florijn, Ralph J., Lauffer, Peter, Visser, Jenny A., van Rossum, Elisabeth F. C., van den Akker, Erica L. T., van Haelst, Mieke M.
المصدر: Clinical Obesity; Aug2024, Vol. 14 Issue 4, p1-10, 10p
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18Academic Journal
المؤلفون: Lauffer, Peter, Heinen, Charlotte A., Goorsenberg, Annika W. M., Malekzadeh, Arjan, Henneman, Peter, Heijboer, Annemieke C., Zwaveling-Soonawala, Nitash, Boelen, Anita, Paul van Trotsenburg, A. S.
المصدر: Lauffer , P , Heinen , C A , Goorsenberg , A W M , Malekzadeh , A , Henneman , P , Heijboer , A C , Zwaveling-Soonawala , N , Boelen , A & Paul van Trotsenburg , A S 2024 , ' Analysis of Serum Free Thyroxine Concentrations in Healthy Term Neonates Underlines Need for Local and Laboratory-Specific Reference Interval : A Systematic Review and Meta-Analysis of Individual Participant Data ' , Thyroid , vol. 34 , no. 5 , pp. 559-565 . https://doi.org/10.1089/thy.2023.0562
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19Academic Journal
المصدر: European Journal of Pediatrics ; volume 180, issue 7, page 2333-2338 ; ISSN 0340-6199 1432-1076
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20Academic Journal
المؤلفون: Lauffer, Peter, Zwaveling-Soonawala, Nitash, Naafs, Jolanda C., Boelen, Anita, van Trotsenburg, A. S. Paul
المصدر: Frontiers in Endocrinology ; volume 12 ; ISSN 1664-2392