المؤلفون: Blom, M, Bredius, RG, Jansen, M, Weijman, G, Kemper, EA, Vermont, Clementien, Hollink, Iris, Dik, Wim, van Montfrans, JM, van Gijn, ME, Henriet, SS, van Aerde, KJ, Koole, W, Lankester, AC, Dekkers, EHBM, Schielen, PC, de Vries, MC, Henneman, L, Burg, M

المصدر: Blom , M , Bredius , RG , Jansen , M , Weijman , G , Kemper , EA , Vermont , C , Hollink , I , Dik , W , van Montfrans , JM , van Gijn , ME , Henriet , SS , van Aerde , KJ , Koole , W , Lankester , AC , Dekkers , EHBM , Schielen , PC , de Vries , MC , Henneman , L & Burg , M 2021 , ' Parents’ Perspectives and Societal Acceptance of Implementation of Newborn Screening for SCID in the Netherlands ' , ....

مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMM045408A, name=EMC MM-04-54-08-A, /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, name=SDG 3 - Good Health and Well-being

وصف الملف: application/pdf

العلاقة: https://pure.eur.nl/en/publications/fe65f5f8-6bbe-42cc-ba77-7d244f31f8d1Test

الإتاحة: https://doi.org/10.1007/s10875-020-00886-4Test
https://pure.eur.nl/en/publications/fe65f5f8-6bbe-42cc-ba77-7d244f31f8d1Test
https://pure.eur.nl/ws/files/58928626/Blom2021_Article_ParentsPerspectivesAndSocietal.pdfTest
http://www.scopus.com/inward/record.url?scp=85092768767&partnerID=8YFLogxKTest

المؤلفون: Weerts, MJA, Lanko, K, Guzmán-Vega, FJ, Jackson, A, Ramakrishnan, R, Cardona-Londoño, KJ, Peña-Guerra, KA, van Bever, Y, van Paassen, BW, Kievit, A, van Slegtenhorst, M, Allen, NM, Kehoe, CM, Robinson, HK, Pang, L, Banu, SH, Zaman, M, Efthymiou, S, Houlden, H, Järvelä, I, Lauronen, L, Määttä, T, Schrauwen, I, Leal, SM, Ruivenkamp, CAL, Barge-Schaapveld, DQCM, Peeters-Scholte, CMPCD, Galehdari, H, Mazaheri, N, Sisodiya, SM, Harrison, V, Sun, A, Thies, J, Pedroza, LA, Lara-Taranchenko, Y, Chinn, IK, Lupski, JR, Garza-Flores, A, McGlothlin, J, Yang, L, Huang, S, Wang, X, Jewett, T, Rosso, G, Lin, X, Mohammed, S, Merritt, JL, Mirzaa, GM, Timms, AE, Scheck, J, Elting, MW, Polstra, AM, Schenck, L, Ruzhnikov, MRZ, Vetro, A, Montomoli, M, Guerrini, R, Koboldt, DC, Mosher, TM, Pastore, MT, McBride, KL, Peng, J, Pan, Z, Willemsen, M, Koning, S, Turnpenny, PD, de Vries, BBA, Gilissen, C, Pfundt, R, Lees, M, Braddock, SR, Klemp, KC, Vansenne, F, van Gijn, ME, Quindipan, C, Deardorff, MA, Hamm, JA, Putnam, AM, Baud, R, Walsh, L, Lynch, SA, Baptista, J, Person, RE, Monaghan, KG, Crunk, A, Keller-Ramey, J, Reich, A, Elloumi, HZ, Alders, M, Kerkhof, J, McConkey, H, Haghshenas, S, Genomics England Research Consortium, Maroofian, R, Sadikovic, B, Banka, S, Arold, ST, Barakat, TS

وصف الملف: application/pdf; application/vnd.ms-excel

العلاقة: https://openaccess.sgul.ac.uk/id/eprint/114578/1/1-s2.0-S1098360021051728-main.pdfTest; https://openaccess.sgul.ac.uk/id/eprint/114578/6/1-s2.0-S1098360021051728-mmc1.pdfTest; https://openaccess.sgul.ac.uk/id/eprint/114578/11/1-s2.0-S1098360021051728-mmc2.xlsxTest; https://openaccess.sgul.ac.uk/id/eprint/114578/12/1-s2.0-S1098360021051728-mmc3.pdfTest; https://openaccess.sgul.ac.uk/id/eprint/114578/17/1-s2.0-S1098360021051728-mmc4.xlsxTest; https://openaccess.sgul.ac.uk/id/eprint/114578/18/1-s2.0-S1098360021051728-mmc5.xlsxTest; Weerts, MJA; Lanko, K; Guzmán-Vega, FJ; Jackson, A; Ramakrishnan, R; Cardona-Londoño, KJ; Peña-Guerra, KA; van Bever, Y; van Paassen, BW; Kievit, A; et al. Weerts, MJA; Lanko, K; Guzmán-Vega, FJ; Jackson, A; Ramakrishnan, R; Cardona-Londoño, KJ; Peña-Guerra, KA; van Bever, Y; van Paassen, BW; Kievit, A; van Slegtenhorst, M; Allen, NM; Kehoe, CM; Robinson, HK; Pang, L; Banu, SH; Zaman, M; Efthymiou, S; Houlden, H; Järvelä, I; Lauronen, L; Määttä, T; Schrauwen, I; Leal, SM; Ruivenkamp, CAL; Barge-Schaapveld, DQCM; Peeters-Scholte, CMPCD; Galehdari, H; Mazaheri, N; Sisodiya, SM; Harrison, V; Sun, A; Thies, J; Pedroza, LA; Lara-Taranchenko, Y; Chinn, IK; Lupski, JR; Garza-Flores, A; McGlothlin, J; Yang, L; Huang, S; Wang, X; Jewett, T; Rosso, G; Lin, X; Mohammed, S; Merritt, JL; Mirzaa, GM; Timms, AE; Scheck, J; Elting, MW; Polstra, AM; Schenck, L; Ruzhnikov, MRZ; Vetro, A; Montomoli, M; Guerrini, R; Koboldt, DC; Mosher, TM; Pastore, MT; McBride, KL; Peng, J; Pan, Z; Willemsen, M; Koning, S; Turnpenny, PD; de Vries, BBA; Gilissen, C; Pfundt, R; Lees, M; Braddock, SR; Klemp, KC; Vansenne, F; van Gijn, ME; Quindipan, C; Deardorff, MA; Hamm, JA; Putnam, AM; Baud, R; Walsh, L; Lynch, SA; Baptista, J; Person, RE; Monaghan, KG; Crunk, A; Keller-Ramey, J; Reich, A; Elloumi, HZ; Alders, M; Kerkhof, J; McConkey, H; Haghshenas, S; Genomics England Research Consortium; Maroofian, R; Sadikovic, B; Banka, S; Arold, ST; Barakat, TS (2021) Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome. Genet Med, 23 (11). pp. 2122-2137. ISSN 1530-0366 https://doi.org/10.1038/s41436-021-01246-2Test SGUL Authors: Maroofian, Reza

الإتاحة: https://doi.org/10.1038/s41436-021-01246-2Test
https://openaccess.sgul.ac.uk/id/eprint/114578Test/
https://openaccess.sgul.ac.uk/id/eprint/114578/1/1-s2.0-S1098360021051728-main.pdfTest
https://openaccess.sgul.ac.uk/id/eprint/114578/6/1-s2.0-S1098360021051728-mmc1.pdfTest
https://openaccess.sgul.ac.uk/id/eprint/114578/11/1-s2.0-S1098360021051728-mmc2.xlsxTest
https://openaccess.sgul.ac.uk/id/eprint/114578/12/1-s2.0-S1098360021051728-mmc3.pdfTest
https://openaccess.sgul.ac.uk/id/eprint/114578/17/1-s2.0-S1098360021051728-mmc4.xlsxTest
https://openaccess.sgul.ac.uk/id/eprint/114578/18/1-s2.0-S1098360021051728-mmc5.xlsxTest

المؤلفون: Shinar, Y, Ceccherini, I, Rowczenio, D, Aksentijevich, I, Arostegui, J, Ben-Chétrit, E, Boursier, G, Gattorno, M, Hayrapetyan, H, Ida, H, Kanazawa, N, Lachmann, HJ, Mensa-Vilaro, A, Nishikomori, R, Oberkanins, C, Obici, L, Ohara, O, Ozen, S, Sarkisian, T, Sheils, K, Wolstenholme, N, Zonneveld-Huijssoon, E, van Gijn, ME, Touitou, I

المصدر: Clinical Chemistry , 66 (4) pp. 525-536. (2020)

مصطلحات موضوعية: Next-Generation Sequencing (NGS), autoinflammatory diseases, genetic diagnosis, guidelines, variant analysis

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10094575/1/hvaa024.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10094575Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10094575/1/hvaa024.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10094575Test/

المؤلفون: Fokkema, I, Van der Velde, KJ, Slofstra, MK, Ruivenkamp, CAL, Vogel, MJ, Pfundt, R, Blok, MJC, Deprez, RHL, Waisfisz, Q, Abbott, KM, Sinke, RJ, Rahman, R, Nijman, IJ, de Koning, B, Thijs, G, Wieskamp, N, Moritz, RJG, Charbon, B, Saris, Jasper, Dunnen, JT, Laros, JFJ, Swertz, MA, van Gijn, ME

المصدر: Fokkema , I , Van der Velde , KJ , Slofstra , MK , Ruivenkamp , CAL , Vogel , MJ , Pfundt , R , Blok , MJC , Deprez , RHL , Waisfisz , Q , Abbott , KM , Sinke , RJ , Rahman , R , Nijman , IJ , de Koning , B , Thijs , G , Wieskamp , N , Moritz , RJG , Charbon , B , Saris , J , Dunnen , JT , Laros , JFJ , Swertz , MA & van Gijn , ME 2019 , ' Dutch ....

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1002/humu.23896Test
https://pure.eur.nl/en/publications/4dbc9892-501b-4415-9491-a0ec8a293314Test
https://pure.eur.nl/ws/files/48256612/Repub_122238_O-A.pdfTest
http://hdl.handle.net/1765/122238Test

المؤلفون: van der Veken, LT, Maiburg, MC, Groenendaal, F, van Gijn, ME, Bloem, AC, Erpelinck, C, Groschel, SM, Sanders, Mathijs, Delwel, Ruud, Bierings, MB, Buijs, A

المصدر: van der Veken , LT , Maiburg , MC , Groenendaal , F , van Gijn , ME , Bloem , AC , Erpelinck , C , Groschel , SM , Sanders , M , Delwel , R , Bierings , MB & Buijs , A 2018 , ' Lethal neonatal bone marrow failure syndrome with multiple congenital abnormalities, including limb defects, due to a constitutional deletion of 3 ' MECOM ' , Haematologica , vol. 103 , no. 4 , pp. E173-E176 . https://doi.org/10.3324/haematol.2017.185033Test

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.3324/haematol.2017.185033Test
https://pure.eur.nl/en/publications/58532029-fb62-44c6-a0ef-21d9f7531f25Test
https://pure.eur.nl/ws/files/47899040/REPUB_105512.pdfTest
http://hdl.handle.net/1765/105512Test

المؤلفون: Elsink, K, van Montfrans, JM, van Gijn, ME, Blom, M, Hagen, PM, Kuijpers, TW, Frederix, GWJ

المصدر: Elsink , K , van Montfrans , JM , van Gijn , ME , Blom , M , Hagen , PM , Kuijpers , TW & Frederix , GWJ 2020 , ' Cost and impact of early diagnosis in primary immunodeficiency disease: A literature review ' , Clinical Immunology , vol. 213 . https://doi.org/10.1016/j.clim.2020.108359Test

الإتاحة: https://doi.org/10.1016/j.clim.2020.108359Test
https://pure.eur.nl/en/publications/a2592964-80cd-4e52-afed-2a4a659af06cTest

المؤلفون: Cuperus, E, van Montfrans, JM, van Gijn, ME, Bastiaens, MT (Maarten), De Willigen, MMA, Leguit, RJ, Brijnzeel-Koomen, C, Russel, IMB, Pasmans, Suzanne

المصدر: Cuperus , E , van Montfrans , JM , van Gijn , ME , Bastiaens , MT , De Willigen , MMA , Leguit , RJ , Brijnzeel-Koomen , C , Russel , IMB & Pasmans , S 2017 , ' Congenital erythroderma should be considered as an urgent warning sign of immunodeficiency: a case of Omenn syndrome ' , European Journal of Dermatology , vol. 27 , no. 3 , pp. 313-314 . https://doi.org/10.1684/ejd.2017.2992Test

الإتاحة: https://doi.org/10.1684/ejd.2017.2992Test
https://pure.eur.nl/en/publications/90a111b7-604c-42cf-b978-f9667eea06dcTest
http://hdl.handle.net/1765/108425Test

المؤلفون: Cuperus, Edwin, van Montfrans, JM, van Hasselt, PM, van der Smagt, JJ, Sigurdsson, V, Dijk, Matthijs, van Gijn, ME, Pasmans, Suzanne

المصدر: Cuperus , E , van Montfrans , JM , van Hasselt , PM , van der Smagt , JJ , Sigurdsson , V , Dijk , M , van Gijn , ME & Pasmans , S 2015 , ' Neonatal erythroderma and collodion baby ' , Nederlands Tijdschrift voor Dermatologie & Venereologie , vol. 25 , no. 2 , pp. 70-76 .

الإتاحة: https://pure.eur.nl/en/publications/35049126-877a-498e-a783-6c20463cb922Test

المؤلفون: Nijman, IJ, van Montfrans, JM, Hoogstraat, M, Boes, ML, van de Corput, L, Renner, ED, van Zon, P, van Lieshout, S, Elferink, MG, van der Burg, Mirjam, Vermont, CE, Van der Zwaag, B, Janson, E, Cuppen, E, van Amstel, JKP, van Gijn, ME

المصدر: Nijman , IJ , van Montfrans , JM , Hoogstraat , M , Boes , ML , van de Corput , L , Renner , ED , van Zon , P , van Lieshout , S , Elferink , MG , van der Burg , M , Vermont , CE , Van der Zwaag , B , Janson , E , Cuppen , E , van Amstel , JKP & van Gijn , ME 2014 , ' Targeted next-generation sequencing: A novel diagnostic tool for primary immunodeficiencies ' , Journal of Allergy and Clinical Immunology , vol. 133 , ....

الإتاحة: https://doi.org/10.1016/j.jaci.2013.08.032Test
https://pure.eur.nl/en/publications/fe7d0eb1-844b-4c8b-bf5b-e16b06cc0e69Test
http://hdl.handle.net/1765/71992Test

المؤلفون: Kuiper, RP (Roland), Vissers, LELM, Venkatachalam, R, Bodmer, D, Hoenselaar, E, Goossens, M (Monique), Haufe, A, Kamping, E, Niessen, RC, Hogervorst, FBL, Gille, JJP, Redeker, B, Tops, CMJ, van Gijn, ME, van den Ouweland, Ans, Rahner, N, Steinke, V, Kahl, P, Holinski-Feder, E, Morak, Marjolein, Kloor, M, Stemmler, S, Betz, B, Hutter, P, Bunyan, DJ, Syngal, S, Culver, JO, Graham, T, Chan, TL, Nagtegaal, ID, van Krieken, JHJM, Schackert, HK, Hoogerbrugge, N, van Kessel, AG, Ligtenberg, MJL

المصدر: Kuiper , RP , Vissers , LELM , Venkatachalam , R , Bodmer , D , Hoenselaar , E , Goossens , M , Haufe , A , Kamping , E , Niessen , RC , Hogervorst , FBL , Gille , JJP , Redeker , B , Tops , CMJ , van Gijn , ME , van den Ouweland , A , Rahner , N , Steinke , V , Kahl , P , Holinski-Feder , E , Morak , M , Kloor , M , Stemmler , S , Betz , B , Hutter , P , ....

الإتاحة: https://doi.org/10.1002/humu.21446Test
https://pure.eur.nl/en/publications/05fd9c97-76c2-4f1d-9d78-511e314c8accTest
http://hdl.handle.net/1765/34227Test