المؤلفون: Meester JAN, Hebert A, Bastiaansen M, Rabaut L, Bastianen J, Boeckx N, Ashcroft K, Atwal PS, Benichou A, Billon C, Blankensteijn JD, Brennan P, Bucks SA, Campbell IM, Conrad S, Curtis SL, Dasouki M, Dent CL, Eden J, Goel H, Hartill V, Houweling AC, Isidor B, Jackson N, Koopman P, Korpioja A, Kraatari-Tiri M, Kuulavainen L, Lee K, Low KJ, Lu AC, McManus ML, Oakley SP, Oliver J, Organ NM, Overwater E, Revencu N, Trainer AH, Trivedi B, Turner CLS, Whittington R, Zankl A, Zentner D, Van Laer L, Verstraeten A, Loeys BL

المصدر: npj Genomic Medicine, December 2024

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/297778; https://eprints.ncl.ac.uk/fulltext.aspx?url=297778/B754D906-0A62-45E9-8CC4-525E7B54E5E3.pdf&pub_id=297778

الاتاحة: https://eprints.ncl.ac.uk/297778

المؤلفون: Laer, L. Van, Koppelaar-van Eijsden, H.M., Hallemans, A., Rompaey, V. Van, Schermer, T.R.J., Bruintjes, T.D., Vereeck, L.

المصدر: Journal of Neurologic Physical Therapy, 49, 1, pp. 24-32

مصطلحات موضوعية: Primary and Community Care - Radboud University Medical Center

Relation: https://repository.ubn.ru.nl//bitstream/handle/2066/313630/313630.pdf; https://hdl.handle.net/2066/313630

الاتاحة: https://hdl.handle.net/2066/313630
https://repository.ubn.ru.nl//bitstream/handle/2066/313630/313630.pdf
https://doi.org/10.1097/NPT.0000000000000499

المؤلفون: Walsh R., Lahrouchi N., Tadros R., Kyndt F., Glinge C., Postema P. G., Amin A. S., Nannenberg E. A., Ware J. S., Whiffin N., Mazzarotto F., Skoric-Milosavljevic D., Krijger C., Arbelo E., Babuty D., Barajas-Martinez H., Beckmann B. M., Bezieau S., Bos J. M., Breckpot J., Campuzano O., Castelletti S., Celen C., Clauss S., Corveleyn A., Crotti L., Dagradi F., de Asmundis C., Denjoy I., Dittmann S., Ellinor P. T., Ortuno C. G., Giustetto C., Gourraud J. -B., Hazeki D., Horie M., Ishikawa T., Itoh H., Kaneko Y., Kanters J. K., Kimoto H., Kotta M. -C., Krapels I. P. C., Kurabayashi M., Lazarte J., Leenhardt A., Loeys B. L., Lundin C., Makiyama T., Mansourati J., Martins R. P., Mazzanti A., Morner S., Napolitano C., Ohkubo K., Papadakis M., Rudic B., Molina M. S., Sacher F., Sahin H., Sarquella-Brugada G., Sebastiano R., Sharma S., Sheppard M. N., Shimamoto K., Shoemaker M. B., Stallmeyer B., Steinfurt J., Tanaka Y., Tester D. J., Usuda K., van der Zwaag P. A., Van Dooren S., Van Laer L., Winbo A., Winkel B. G., Yamagata K., Zumhagen S., Volders P. G. A., Lubitz S. A., Antzelevitch C., Platonov P. G., Odening K. E., Roden D. M., Roberts J. D., Skinner J. R., Tfelt-Hansen J., van den Berg M. P., Olesen M. S., Lambiase P. D., Borggrefe M., Hayashi K., Rydberg A., Nakajima T., Yoshinaga M., Saenen J. B., Kaab S., Brugada P., Robyns T., Giachino D. F., Ackerman M. J., Brugada R., Brugada J., Gimeno J. R., Hasdemir C., Guicheney P., Priori S. G., Schulze-Bahr E., Makita N., Schwartz P. J., Shimizu W., Aiba T., Schott J. -J., Redon R., Ohno S., Probst V., Arnaout A. A., Amelot M., Anselme F., Billon O., Defaye P., Dupuis J. -M., Jesel L., Laurent G., Maury P., Pasquie J. -L., Wiart F., Behr E. R., Barc J., Bezzina C. R.

المساهمون: Walsh R., Lahrouchi N., Tadros R., Kyndt F., Glinge C., Postema P.G., Amin A.S., Nannenberg E.A., Ware J.S., Whiffin N., Mazzarotto F., Skoric-Milosavljevic D., Krijger C., Arbelo E., Babuty D., Barajas-Martinez H., Beckmann B.M., Bezieau S., Bos J.M., Breckpot J., Campuzano O., Castelletti S., Celen C., Clauss S., Corveleyn A., Crotti L., Dagradi F., de Asmundis C., Denjoy I., Dittmann S., Ellinor P.T., Ortuno C.G., Giustetto C., Gourraud J.-B., Hazeki D., Horie M., Ishikawa T., Itoh H., Kaneko Y., Kanters J.K., Kimoto H., Kotta M.-C., Krapels I.P.C., Kurabayashi M., Lazarte J., Leenhardt A., Loeys B.L., Lundin C., Makiyama T., Mansourati J., Martins R.P., Mazzanti A., Morner S., Napolitano C., Ohkubo K., Papadakis M., Rudic B., Molina M.S., Sacher F., Sahin H., Sarquella-Brugada G., Sebastiano R., Sharma S., Sheppard M.N., Shimamoto K., Shoemaker M.B., Stallmeyer B., Steinfurt J., Tanaka Y., Tester D.J., Usuda K., van der Zwaag P.A., Van Dooren S., Van Laer L., Winbo A., Winkel B.G., Yamagata K., Zumhagen S., Volders P.G.A., Lubitz S.A., Antzelevitch C., Platonov P.G., Odening K.E., Roden D.M., Roberts J.D., Skinner J.R., Tfelt-Hansen J., van den Berg M.P., Olesen M.S., Lambiase P.D., Borggrefe M., Hayashi K., Rydberg A., Nakajima T., Yoshinaga M., Saenen J.B., Kaab S., Brugada P., Robyns T., Giachino D.F.

مصطلحات موضوعية: ACMG/AMP guideline, Brugada, LQTS, variant interpretation

Relation: info:eu-repo/semantics/altIdentifier/pmid/32893267; info:eu-repo/semantics/altIdentifier/wos/WOS:000566661000001; volume:23; issue:1; firstpage:47; lastpage:58; numberofpages:12; journal:GENETICS IN MEDICINE; http://hdl.handle.net/2318/1766442; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85090223596; https://www.nature.com/articles/s41436-020-00946-5

الاتاحة: http://hdl.handle.net/2318/1766442
https://doi.org/10.1038/s41436-020-00946-5
https://www.nature.com/articles/s41436-020-00946-5

المؤلفون: Drackley, A, Somerville, C, Arnaud, P, Baudhuin, L M, Hanna, N, Kluge, M L, Kotzer, K, Boileau, C, Bronicki, L, Callewaert, B, Cecchi, A, Dietz, H, Guo, D, Harris, S, Jarinova, O, Lindsay, M, Little, L, Loeys, B, MacCarrick, G, Meester, J, Milewicz, D, Morisaki, T, Morisaki, H, Murdock, D, Renard, M, Richer, J, Robert, L, Ouzounian, M, Van Laer, L, De Backer, J, Muiño-Mosquera, L

المصدر: Genome Med ; ISSN:1756-994X ; Volume:16 ; Issue:1

مصطلحات موضوعية: FBN1, ACMG-AMP guidelines, Marfan syndrome, Variant curation, Variant interpretation

Relation: https://doi.org/10.1186/s13073-024-01423-3; https://pubmed.ncbi.nlm.nih.gov/39741318; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11686912/

الاتاحة: https://doi.org/10.1186/s13073-024-01423-3
https://pubmed.ncbi.nlm.nih.gov/39741318
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11686912/

المؤلفون: Meester, Josephina A. N., Hebert, Anne, Blankensteijn, Jan D., Brennan, Paul, Bucks, Stephanie A., Campbell, Ian M., Conrad, Solène, Curtis, Stephanie L., Dasouki, Majed, Dent, Carolyn L., Eden, James, Goel, Himanshu, Bastiaansen, Maaike, Oakley, Stephen P., Houweling, AC, Isidor, B, Jackson, N, Koopman, P, Korpioja, A, Kraatari-Tiri, M, Kuulavainen, L, Lee, K, Low, KJ, Rabaut, Laura, Lu, AC, McManus, ML, Oakley, SP, Oliver, J, Organ, NM, Overwater, E, Revencu, N, Trainer, AH, Trivedi, B, Turner, CLS, Bastianen, Jarl, Whittington, R, Zankl, A, Zentner, D, Van Laer, L, Verstraeten, A, Loeys, BL, Boeckx, Nele, Ashcroft, Kathryn, Atwal, Paldeep S., Benichou, Antoine, Billon, Clarisse

المساهمون: The University of Newcastle. College of Health, Medicine & Wellbeing, School of Medicine and Public Health

مصطلحات موضوعية: aneurysm, disease genetics, medical genomics, mutation

Relation: npj Genomic Medicine Vol. 9, Issue 1, no. 22; http://hdl.handle.net/1959.13/1501515; uon:55151

الاتاحة: http://hdl.handle.net/1959.13/1501515

المؤلفون: Van Gucht, I, Meester, JAN, Bento, JR, Bastiaansen, M, Bastianen, J, Luyckx, I, Van Den Heuvel, L, Neutel, CHG, Guns, PJ, Vermont, M, Fransen, E, Perik, MHAM, Velchev, JD, Alaerts, M, Schepers, D, Peeters, S, Pintelon, I, Almesned, A, Ferla, MP, Taylor, JC, Dallosso, AR, Williams, M, Evans, J, Rosenfeld, JA, Sluysmans, T, Rodrigues, D, Chikermane, A, Bharmappanavara, G, Vijayakumar, K, Mottaghi Moghaddam Shahri, H, Hashemi, N, Torbati, PN, Toosi, MB, Al-Hassnan, ZN, Vogt, J, Revencu, N, Maystadt, I, Miller, EM, Weaver, KN, Begtrup, A, Houlden, H, Murphy, D, Maroofian, R, Pagnamenta, AT, Van Laer, L, Loeys, BL, Verstraeten, A

المصدر: American Journal of Human Genetics , 108 (6) pp. 1115-1125. (2021)

مصطلحات موضوعية: TGF-beta, thoracic aortic aneurysm, Loeys-Dietz syndrome, Shprintzen-Goldberg syndrome, importin 8, knockout mouse model

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10158793/1/A%20human%20importin%20related%20disorder.pdf; https://discovery.ucl.ac.uk/id/eprint/10158793/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10158793/1/A%20human%20importin%20related%20disorder.pdf
https://discovery.ucl.ac.uk/id/eprint/10158793/

المؤلفون: Walsh, R, Lahrouchi, N, Tadros, R, Kyndt, F, Glinge, C, Postema, PG, Amin, AS, Nannenberg, EA, Ware, JS, Whiffin, N, Mazzarotto, F, Škorić-Milosavljević, D, Krijger, C, Arbelo, E, Babuty, D, Barajas-Martinez, H, Beckmann, BM, Bézieau, S, Bos, JM, Breckpot, J, Campuzano, O, Castelletti, S, Celen, C, Clauss, S, Corveleyn, A, Crotti, L, Dagradi, F, de Asmundis, C, Denjoy, I, Dittmann, S, Ellinor, PT, Ortuño, CG, Giustetto, C, Gourraud, J-B, Hazeki, D, Horie, M, Ishikawa, T, Itoh, H, Kaneko, Y, Kanters, JK, Kimoto, H, Kotta, M-C, Krapels, IPC, Kurabayashi, M, Lazarte, J, Leenhardt, A, Loeys, BL, Lundin, C, Makiyama, T, Mansourati, J, Martins, RP, Mazzanti, A, Mörner, S, Napolitano, C, Ohkubo, K, Papadakis, M, Rudic, B, Molina, MS, Sacher, F, Sahin, H, Sarquella-Brugada, G, Sebastiano, R, Sharma, S, Sheppard, MN, Shimamoto, K, Shoemaker, MB, Stallmeyer, B, Steinfurt, J, Tanaka, Y, Tester, DJ, Usuda, K, van der Zwaag, PA, Van Dooren, S, Van Laer, L, Winbo, A, Winkel, BG, Yamagata, K, Zumhagen, S, Volders, PGA, Lubitz, SA, Antzelevitch, C, Platonov, PG, Odening, KE, Roden, DM, Roberts, JD, Skinner, JR, Tfelt-Hansen, J, van den Berg, MP, Olesen, MS, Lambiase, PD, Borggrefe, M, Hayashi, K, Rydberg, A, Nakajima, T, Yoshinaga, M, Saenen, JB, Kääb, S, Brugada, P, Robyns, T, Giachino, DF, Ackerman, MJ, Brugada, R, Brugada, J, Gimeno, JR, Hasdemir, C, Guicheney, P, Priori, SG, Schulze-Bahr, E, Makita, N, Schwartz, PJ, Shimizu, W, Aiba, T, Schott, J-J, Redon, R, Ohno, S, Probst, V, Nantes Referral Center for inherited cardiac arrhythmia, Behr, ER, Barc, J, Bezzina, CR

وصف الملف: application/pdf; application/vnd.openxmlformats-officedocument.wordprocessingml.document

Relation: https://openaccess.sgul.ac.uk/id/eprint/112371/3/s41436-020-00946-5.pdf; https://openaccess.sgul.ac.uk/id/eprint/112371/1/Arrhythmia_variant_interpretation_manuscript_GiM_FINAL_Figs_Tables.docx; Walsh, R; Lahrouchi, N; Tadros, R; Kyndt, F; Glinge, C; Postema, PG; Amin, AS; Nannenberg, EA; Ware, JS; Whiffin, N; et al. Walsh, R; Lahrouchi, N; Tadros, R; Kyndt, F; Glinge, C; Postema, PG; Amin, AS; Nannenberg, EA; Ware, JS; Whiffin, N; Mazzarotto, F; Škorić-Milosavljević, D; Krijger, C; Arbelo, E; Babuty, D; Barajas-Martinez, H; Beckmann, BM; Bézieau, S; Bos, JM; Breckpot, J; Campuzano, O; Castelletti, S; Celen, C; Clauss, S; Corveleyn, A; Crotti, L; Dagradi, F; de Asmundis, C; Denjoy, I; Dittmann, S; Ellinor, PT; Ortuño, CG; Giustetto, C; Gourraud, J-B; Hazeki, D; Horie, M; Ishikawa, T; Itoh, H; Kaneko, Y; Kanters, JK; Kimoto, H; Kotta, M-C; Krapels, IPC; Kurabayashi, M; Lazarte, J; Leenhardt, A; Loeys, BL; Lundin, C; Makiyama, T; Mansourati, J; Martins, RP; Mazzanti, A; Mörner, S; Napolitano, C; Ohkubo, K; Papadakis, M; Rudic, B; Molina, MS; Sacher, F; Sahin, H; Sarquella-Brugada, G; Sebastiano, R; Sharma, S; Sheppard, MN; Shimamoto, K; Shoemaker, MB; Stallmeyer, B; Steinfurt, J; Tanaka, Y; Tester, DJ; Usuda, K; van der Zwaag, PA; Van Dooren, S; Van Laer, L; Winbo, A; Winkel, BG; Yamagata, K; Zumhagen, S; Volders, PGA; Lubitz, SA; Antzelevitch, C; Platonov, PG; Odening, KE; Roden, DM; Roberts, JD; Skinner, JR; Tfelt-Hansen, J; van den Berg, MP; Olesen, MS; Lambiase, PD; Borggrefe, M; Hayashi, K; Rydberg, A; Nakajima, T; Yoshinaga, M; Saenen, JB; Kääb, S; Brugada, P; Robyns, T; Giachino, DF; Ackerman, MJ; Brugada, R; Brugada, J; Gimeno, JR; Hasdemir, C; Guicheney, P; Priori, SG; Schulze-Bahr, E; Makita, N; Schwartz, PJ; Shimizu, W; Aiba, T; Schott, J-J; Redon, R; Ohno, S; Probst, V; Nantes Referral Center for inherited cardiac arrhythmia; Behr, ER; Barc, J; Bezzina, CR (2021) Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls. Genet Med, 23 (1). pp. 47-58. ISSN 1530-0366 https://doi.org/10.1038/s41436-020-00946-5 SGUL Authors: Behr, Elijah Raphael Papadakis, Michael Sharma, Sanjay Sheppard, Mary Noelle

الاتاحة: https://openaccess.sgul.ac.uk/id/eprint/112371/
https://openaccess.sgul.ac.uk/id/eprint/112371/3/s41436-020-00946-5.pdf
https://openaccess.sgul.ac.uk/id/eprint/112371/1/Arrhythmia_variant_interpretation_manuscript_GiM_FINAL_Figs_Tables.docx

المؤلفون: Walsh, R, Lahrouchi, N, Tadros, R, Kyndt, F, Glinge, C, Postema, PG, Amin, AS, Nannenberg, EA, Ware, JS, Whiffin, N, Mazzarotto, F, Skoric-Milosavljevic, D, Krijger, C, Arbelo, E, Babuty, D, Barajas-Martinez, H, Beckmann, BM, Bezieau, S, Bos, JM, Breckpot, J, Campuzano, O, Castelletti, S, Celen, C, Clauss, S, Corveleyn, A, Crotti, L, Dagradi, F, de Asmundis, C, Denjoy, I, Dittmann, S, Ellinor, PT, Ortuno, CG, Giustetto, C, Gourraud, J-B, Hazeki, D, Horie, M, Ishikawa, T, Itoh, H, Kaneko, Y, Kanters, JK, Kimoto, H, Kotta, M-C, Krapels, IPC, Kurabayashi, M, Lazarte, J, Leenhardt, A, Loeys, BL, Lundin, C, Makiyama, T, Mansourati, J, Martins, RP, Mazzanti, A, Morner, S, Napolitano, C, Ohkubo, K, Papadakis, M, Rudic, B, Molina, MS, Sacher, F, Sahin, H, Sarquella-Brugada, G, Sebastiano, R, Sharma, S, Sheppard, MN, Shimamoto, K, Shoemaker, MB, Stallmeyer, B, Steinfurt, J, Tanaka, Y, Tester, DJ, Usuda, K, van der Zwaag, PA, Van Dooren, S, Van Laer, L, Winbo, A, Winkel, BG, Yamagata, K, Zumhagen, S, Volders, PGA, Lubitz, SA, Antzelevitch, C, Platonov, PG, Odening, KE, Roden, DM, Roberts, JD, Skinner, JR, Tfelt-Hansen, J, van den Berg, MP, Olesen, MS, Lambiase, PD, Borggrefe, M, Hayashi, K, Rydberg, A, Nakajima, T, Yoshinaga, M, Saenen, JB, Kaeaeb, S, Brugada, P, Robyns, T, Giachino, DF, Ackerman, MJ, Brugada, R, Brugada, J, Gimeno, JR, Hasdemir, C, Guicheney, P, Priori, SG, Schulze-Bahr, E, Makita, N, Schwartz, PJ, Shimizu, W, Aiba, T, Schott, J-J, Redon, R, Ohno, S, Probst, V, Behr, ER, Barc, J, Bezzina, CR

المصدر: Genetics in Medicine (2020) (In press).

مصطلحات موضوعية: variant interpretation, LQTS, Brugada, ACMG/AMP guidelines

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10112002/1/Lambiase_Enhancing%20rare%20variant%20interpretation%20in%20inherited%20arrhythmias%20through%20quantitative%20analysis%20of%20consortium%20disease%20cohorts%20and%20population%20controls_AOP.pdf; https://discovery.ucl.ac.uk/id/eprint/10112002/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10112002/1/Lambiase_Enhancing%20rare%20variant%20interpretation%20in%20inherited%20arrhythmias%20through%20quantitative%20analysis%20of%20consortium%20disease%20cohorts%20and%20population%20controls_AOP.pdf
https://discovery.ucl.ac.uk/id/eprint/10112002/

المؤلفون: Gucht, Ilse Van, Buccioli, Lucia, Rabaut, Laura, Fedoryshchenko, Ivanna, Meester, J.A., Laer, L. Van, Loeys, B.L., Verstraeten, Aline

المصدر: Stem Cell Research, 69, pp. 103061

مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience

Relation: https://repository.ubn.ru.nl//bitstream/handle/2066/292073/292073.pdf; https://repository.ubn.ru.nl/handle/2066/292073

الاتاحة: https://repository.ubn.ru.nl//bitstream/handle/2066/292073/292073.pdf
https://repository.ubn.ru.nl/handle/2066/292073
https://doi.org/10.1016/j.scr.2023.103061

المؤلفون: Perik, M.H.A.M., Govaerts, E., Laga, S., Goovaerts, I., Saenen, J., Craenenbroeck, E. Van, Meester, J.A.N., Luyckx, I., Rodrigus, I., Verstraeten, A., Laer, L. Van, Loeys, B.L.

المصدر: Frontiers in Genetics, 14, pp. 1251675

مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience

Relation: https://repository.ubn.ru.nl//bitstream/handle/2066/296771/296771.pdf; https://repository.ubn.ru.nl/handle/2066/296771

الاتاحة: https://repository.ubn.ru.nl//bitstream/handle/2066/296771/296771.pdf
https://repository.ubn.ru.nl/handle/2066/296771
https://doi.org/10.3389/fgene.2023.1251675

المؤلفون: Schepers, D. (Dorien), Tortora, G. (Giada), Morisaki, H. (Hiroko), Maccarrick, G. (Gretchen), Lindsay, M. (Mark), Liang, D. (David), Mehta, S.G. (Sarju G.), Hague, J. (Jennifer), Verhagen, J.M.A. (Judith), Laar, I.M.B.H. (Ingrid) van de, Wessels, M.W. (Marja), Detisch, Y. (Yvonne), Haelst, M.M. (Mieke) van, Baas, A.F. (Annette), Lichtenbelt, K.D. (Klaske), Braun, K. (Kees), Linde, D. (Denise) van der, Roos-Hesselink, J.W. (Jolien), McGillivray, G. (George), Meester, J. (Josephina), Maystadt, I. (Isabelle), Coucke, P. (Paul), El-Khoury, E. (Elie), Parkash, S. (Sandhya), Diness, B. (Birgitte), Risom, L. (Lotte), Scurr, I. (Ingrid), Hilhorst-Hofstee, Y. (Yvonne), Morisaki, T. (Takayuki), Richer, J. (Julie), Desir, J.P., Kempers, M.J.E. (Marlies), Rideout, A.L. (Andrea L.), Horne, G. (Gabrielle), Bennett, C. (Chris), Rahikkala, E. (Elisa), Vandeweyer, G. (Geert), Alaerts, M. (Maaike), Verstraeten, A. (Aline), Dietz, H. (Hal), Van Laer, L. (Lut), Loeys, B.L. (Bart)

المصدر: Human Mutation

مصطلحات موضوعية: Aneurysm, Loeys-Dietz syndrome, SMAD2, SMAD3, TGFB2, TGFB3

وصف الملف: application/pdf

Relation: info:eu-repo/grantAgreement/EC/ERC/309792; http://repub.eur.nl/pub/105170; urn:hdl:1765/105170

الاتاحة: http://repub.eur.nl/pub/105170
https://doi.org/10.1002/humu.23407

المؤلفون: Meester, JAN, Sukalo, M, Schroeder, KC, Schanze, D, Baynam, G, Borck, G, Bramswig, NC, Duman, D, Gilbert-Dussardier, B, Holder-Espinasse, M, Itin, P, Johnson, DS, Joss, S, Koillinen, H, McKenzie, F, Morton, J, Nelle, H, Reardon, W, Roll, C, Salih, MA, Savarirayan, R, Scurr, I, Splitt, M, Thompson, E, Titheradge, H, Travers, CP, Van Maldergem, L, Whiteford, M, Wieczorek, D, Vandeweyer, G, Trembath, R, Van Laer, L, Loeys, BL, Zenker, M, Southgate, L, Wuyts, W

Relation: Meester, J. A. N., Sukalo, M., Schroeder, K. C., Schanze, D., Baynam, G., Borck, G., Bramswig, N. C., Duman, D., Gilbert-Dussardier, B., Holder-Espinasse, M., Itin, P., Johnson, D. S., Joss, S., Koillinen, H., McKenzie, F., Morton, J., Nelle, H., Reardon, W., Roll, C. ,. Wuyts, W. (2018). Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort. HUMAN MUTATION, 39 (9), pp.1246-1261. https://doi.org/10.1002/humu.23567.; http://hdl.handle.net/11343/248148

الاتاحة: http://hdl.handle.net/11343/248148

المؤلفون: Meester, J.A.N., Verstraeten, A., Alaerts, M., Schepers, D., Van Laer, L., Loeys, B.L.

المصدر: Clinical Genetics ; volume 95, issue 1 ; ISSN 0009-9163 1399-0004

الاتاحة: http://dx.doi.org/10.1111/cge.13494
https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13494

المؤلفون: Kishita, Y., Pajak, A., Bolar, N. A., Marobbio, C. M., Maffezzini, C., Miniero, D. V., Kohda, M., Stranneheim, H., Murayama, K., Naess, K., Lesko, N., Bruhn, H., Mourier, A., Wibom, R., Nennesmo, I., Jespers, A., Govaert, P., Ohtake, A., Van Laer, L, Loeys, B. L., Freyer, C., Palmieri, F., Wredenberg, A., Okazaki, Y., Wedell, A., MONNE', MAGNUS LUDVIG

المساهمون: Kishita, Y., Pajak, A., Bolar, N. A., Marobbio, C. M., Maffezzini, C., Miniero, D. V., Monne', MAGNUS LUDVIG, Kohda, M., Stranneheim, H., Murayama, K., Naess, K., Lesko, N., Bruhn, H., Mourier, A., Wibom, R., Nennesmo, I., Jespers, A., Govaert, P., Ohtake, A., Van Laer, L, Loeys, B. L., Freyer, C., Palmieri, F., Wredenberg, A., Okazaki, Y., Wedell, A.

مصطلحات موضوعية: S-ADENOSYLMETHIONINE TRANSPORTER, RIBOSOMAL-RNA, FUNCTIONAL-CHARACTERIZATION, MITOCHONDRIAL RIBOSOME, BACTERIAL EXPRESSION, ESCHERICHIA-COLI, IDENTIFICATION, RECONSTITUTION, CARRIER, BIOSYNTHESIS

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000364803000012; volume:97; issue:5; firstpage:761; lastpage:768; numberofpages:8; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11563/114273; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84947945386

الاتاحة: http://hdl.handle.net/11563/114273
https://doi.org/10.1016/j.ajhg.2015.09.013

المؤلفون: Gillis, E. (Elisabeth), Kumar, A.A. (Ajay A.), Luyckx, I. (Ilse), Preuss, C. (Christoph), Cannaerts, E. (Elyssa), Beek, G. (Gerarda van de), Wieschendorf, B. (Björn), Alaerts, M. (Maaike), Bolar, N. (Nikhita), Vandeweyer, G. (Geert), Meester, J. (Josephina), Wünnemann, F. (Florian), Gould, R.A. (Russell A.), Zhurayev, R. (Rustam), Zerbino, D. (Dmytro), Mohamed, S.A. (Salah A.), Mital, S. (Seema), Mertens, L. (Luc), Björck, H.M. (Hanna M.), Franco-Cereceda, A. (Anders), McCallion, A.S. (Andrew), Laer, L. (Lut) van, Verhagen, J.M.A. (Judith), Laar, I.M.B.H. (Ingrid) van de, Wessels, M.W. (Marja), Messas, E. (Emmanuel), Goudot, G. (Guillaume), Nemcikova, M. (Michaela), Krebsova, A. (Alice), Kempers, M.J.E. (Marlies), Salemink, S. (Simone), Duijnhouwer, T. (Toon), Jeunemaître, X. (Xavier), Albuisson, J. (Juliette), Eriksson, P. (Per), Andelfinger, G. (Gregor), Dietz, H.C. (Harry ), Verstraeten, A. (Aline), Loeys, B.L. (Bart)

المصدر: Frontiers in Physiology vol. 8 no. JUN

مصطلحات موضوعية: Bicuspid aortic valve, SMAD6, Targeted gene panel, Thoracic aortic aneurysm, Variant burden test

وصف الملف: application/pdf

Relation: http://repub.eur.nl/pub/100585; urn:hdl:1765/100585

الاتاحة: http://repub.eur.nl/pub/100585
https://doi.org/10.3389/fphys.2017.00400

المؤلفون: Gillis, E. (Elisabeth), Kumar, A.A. (Ajay A.), Luyckx, I. (Ilse), Preuss, C. (Christoph), Cannaerts, E. (Elyssa), Van De Beek, G. (Gerarda), Wieschendorf, B. (Björn), Alaerts, M. (Maaike), Bolar, N. (Nikhita), Vandeweyer, G. (Geert), Meester, J. (Josephina), Wünnemann, F. (Florian), Gould, R.A. (Russell A.), Zhurayev, R. (Rustam), Zerbino, D. (Dmytro), Mohamed, S.A. (Salah A.), Mital, S. (Seema), Mertens, L. (Luc), Björck, H.M. (Hanna M.), Franco-Cereceda, A. (Anders), McCallion, A.S. (Andrew), Van Laer, L. (Lut), Verhagen, J.M.A. (Judith), van de Laar, I.M.B.H. (Ingrid M.B.H.), Wessels, M.W. (Marja), Messas, E. (Emmanuel), Goudot, G. (Guillaume), Nemcikova, M. (Michaela), Krebsova, A. (Alice), Kempers, M.J.E. (Marlies), Salemink, S. (Simone), Duijnhouwer, T. (Toon), Jeunemaître, X. (Xavier), Albuisson, J. (Juliette), Eriksson, P. (Per), Andelfinger, G. (Gregor), Dietz, H.C. (Harry ), Verstraeten, A. (Aline), Loeys, B.L. (Bart)

المصدر: Frontiers in Physiology vol. 8 no. SEP

مصطلحات موضوعية: Bicuspid aortic valve, SMAD6, Targeted gene panel, Thoracic aortic aneurysm, Variant burden test

وصف الملف: application/pdf

Relation: http://repub.eur.nl/pub/102205; urn:hdl:1765/102205

الاتاحة: http://repub.eur.nl/pub/102205
https://doi.org/10.3389/fphys.2017.00730

المؤلفون: Meester, J.A., Vandeweyer, G., Pintelon, I., Lammens, M., Van Hoorick, L., De Belder, S., Waitzman, K., Young, L., Markham, L.W., Vogt, J., Richer, J., Beauchesne, L.M., Unger, S., Superti-Furga, A., Prsa, M., Dhillon, R., Reyniers, E., Dietz, H.C., Wuyts, W., Mortier, G., Verstraeten, A., Van Laer, L., Loeys, B.L.

المصدر: Genetics in medicine, vol. 19, no. 4, pp. 386-395

مصطلحات موضوعية: Aneurysm, Dissecting/genetics, Dissecting/metabolism, Aortic Aneurysm, Thoracic/genetics, Thoracic/metabolism, Biglycan/genetics, Biglycan/metabolism, Cells, Cultured, Female, Genes, X-Linked, Genetic Predisposition to Disease, Humans, Male, Mutation, Pedigree, Sequence Analysis, DNA/methods, Signal Transduction, Transforming Growth Factor beta/metabolism

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/27632686; info:eu-repo/semantics/altIdentifier/eissn/1530-0366; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_BC357EF48A1B0; https://serval.unil.ch/notice/serval:BIB_BC357EF48A1B; https://serval.unil.ch/resource/serval:BIB_BC357EF48A1B.P001/REF.pdf

الاتاحة: https://serval.unil.ch/notice/serval:BIB_BC357EF48A1B
https://doi.org/10.1038/gim.2016.126
https://serval.unil.ch/resource/serval:BIB_BC357EF48A1B.P001/REF.pdf
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_BC357EF48A1B0

المؤلفون: Altmann, S., Aertsens, M., Appelo, T., Bruggeman, C., Gaboreau, Stéphane, Glaus, M., Jacquier, P., Kupcik, T., Maes, N., Montoya, V., Rabung, T., Robinet, J.-C., Savoye, Sebastien, Schaefer, T., Tournassat, C., van Laer, L., van Loon, L.

المساهمون: ANDRA, Chatenay Malabry, France, Centre d'Etude de l'Energie Nucléaire (SCK-CEN), Hydrochemical Consultant, Bureau de Recherches Géologiques et Minières (BRGM), Paul Scherrer Institute (PSI), Laboratoire de Mesures et Modélisation de la Migration des Radionucléides (L3MR), Service d'Etudes du Comportement des Radionucléides (SECR), Département de Physico-Chimie (DPC), CEA-Direction des Energies (ex-Direction de l'Energie Nucléaire) (CEA-DES (ex-DEN)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay-CEA-Direction des Energies (ex-Direction de l'Energie Nucléaire) (CEA-DES (ex-DEN)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay-Département de Physico-Chimie (DPC), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay, Karlsruhe Institute of Technology = Karlsruher Institut für Technologie (KIT), European Project: 249624,EC:FP7:Fission,FP7-Fission-2009,CATCLAY(2010)

المصدر: https://cea.hal.science/cea-01223753 ; 2015.

مصطلحات موضوعية: diffusion, clay: claystones, cations, europium, zinc, strontium, sorption, [SDE]Environmental Sciences, [CHIM]Chemical Sciences

Relation: info:eu-repo/grantAgreement/EC/FP7/249624/EU/Processes of Cation Migration in Clayrocks/CATCLAY

الاتاحة: https://cea.hal.science/cea-01223753
https://cea.hal.science/cea-01223753v1/document
https://cea.hal.science/cea-01223753v1/file/Final%20CatClay%20report%20CEA-R-6410%20%281%29.pdf

المؤلفون: Huber, F., Montoya, V., Kienzler, B., Schäfer, T., Baeyens, B., Bruggemann, Ch., Glaus, M., Kupcik, T., Maes, N., Marques Fernandes, M., Molineo, J., Sainz, A., Shafei, B., Totskiy, Y., Trumm, M., Van Laer, L.

المصدر: ISSN: 1869-9669.

مصطلحات موضوعية: ddc:600, Technology, info:eu-repo/classification/ddc/600

Relation: KIT Scientific Reports; info:eu-repo/semantics/altIdentifier/issn/1869-9669; https://publikationen.bibliothek.kit.edu/1000061651; http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:swb:90-616516

الاتاحة: https://publikationen.bibliothek.kit.edu/1000061651
http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:swb:90-616516

المؤلفون: Perik, M., Verstraeten, Aline, Nijak-Paeske, Aleksandra, Rabaut, Laura, Laer, L. Van, Loeys, B.L.

المصدر: Stem Cell Research, 65

مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience

Relation: https://repository.ubn.ru.nl//bitstream/handle/2066/287450/287450.pdf; https://repository.ubn.ru.nl/handle/2066/287450

الاتاحة: https://repository.ubn.ru.nl//bitstream/handle/2066/287450/287450.pdf
https://repository.ubn.ru.nl/handle/2066/287450
https://doi.org/10.1016/j.scr.2022.102956