المؤلفون: Bakalkin, G, Watanabe, H, Jezierska, J, Depoorter, C, Verschuuren-Bemelmans, C, Bazov, I, Artemenko, KA, Yakovleva, T, Dooijes, D, Van de Warrenburg, BPC, Zubarev, RA, Kremer, B, Knapp, PE, Hauser, KF, Wijmenga, C, Nyberg, F, Sinke, RJ, Verbeek, DS

المصدر: American journal of human genetics. 87(5):593-603

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:121632520Test

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: Hoorntje, ET, Posafalvi, A, Syrris, P, van der Velde, KJ, Bolling, MC, Protonotarios, A, Boven, LG, Amat-Codina, N, Groeneweg, JA, Wilde, AA, Sobreira, N, Calkins, H, Hauer, RNW, Jonkman, MF, McKenna, WJ, Elliott, PM, Sinke, RJ, van den Berg, MP, Chelko, SP, James, CA, van Tintelen, JP, Judge, DP, Jongbloed, JDH

المصدر: PLoS One , 13 (8) , Article e0203078. (2018)

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10055651/1/journal.pone.0203078.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10055651Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10055651/1/journal.pone.0203078.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10055651Test/

المؤلفون: Veldman, A, Kiewiet, MBG, Heiner-Fokkema, MR, Nelen, MR, Sinke, RJ, Dollé, MET

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=narcis______::267c4db6f74371684690d484e9e360d3Test
http://hdl.handle.net/10029/625602Test

المؤلفون: Almomani, R, Herkert, JC, Posafalvi, A, Post, JG, Boven, LG, van der Zwaag, PA, Willems, P, Van Veen-Hof, IH, Verhagen, Judith, Wessels, Marja, Nikkels, PGJ, Wintjes, LT, van den Berg, MMP (Mike), Sinke, RJ, Rodenburg, RJ, Niezen-Koning, KE, Tintelen, JP, Jongbloed, JD

المصدر: Almomani , R , Herkert , JC , Posafalvi , A , Post , JG , Boven , LG , van der Zwaag , PA , Willems , P , Van Veen-Hof , IH , Verhagen , J , Wessels , M , Nikkels , PGJ , Wintjes , LT , van den Berg , MMP , Sinke , RJ , Rodenburg , RJ , Niezen-Koning , KE , Tintelen , JP & Jongbloed , JD 2020 , ' Homozygous damaging SOD2 variant causes lethal neonatal dilated cardiomyopathy ' , Journal of Medical Genetics , vol. 57 , no. ....

مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCOR01, name=EMC OR-01

العلاقة: https://pure.eur.nl/en/publications/f40859a5-8d4b-49fa-9aa9-93c9d4140b27Test

الإتاحة: https://doi.org/10.1136/jmedgenet-2019-106330Test
https://pure.eur.nl/en/publications/f40859a5-8d4b-49fa-9aa9-93c9d4140b27Test

المؤلفون: van den Boogaard, MJH, Costa, Dominique, Krapels, IPC, Liu, Fan, Duijn, Cornelia, Sinke, RJ, Lindhout, D (Dick), Steegers - Theunissen, Régine

المصدر: van den Boogaard , MJH , Costa , D , Krapels , IPC , Liu , F , Duijn , C , Sinke , RJ , Lindhout , D & Steegers - Theunissen , R 2008 , ' The MSX1 allele 4 homozygous child exposed to smoking at periconception is most sensitive in developing nonsyndromic orofacial clefts ' , Human Genetics , vol. 124 , no. 5 , pp. 525-534 . https://doi.org/10.1007/s00439-008-0569-6Test

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1007/s00439-008-0569-6Test
https://pure.eur.nl/en/publications/042b1304-8c6a-456d-802e-2b78866674ddTest
https://pure.eur.nl/ws/files/46792487/fulltext.pdfTest
http://hdl.handle.net/1765/29638Test

المؤلفون: Sinke, RJ, Carlton, VEH, Juijn, JA, Delhaas, T, Bull, L, van Berge Henegouwen, GP, van Hattum, J, Keller, KM, Sinaasappel, M (Maarten), Bijleveld, ChMA, Knol, IE, Ploos van Amstel, H-K, Pearson, PL, Berger, R, Freimer, NB, Houwen, RHJ

المصدر: Sinke , RJ , Carlton , VEH , Juijn , JA , Delhaas , T , Bull , L , van Berge Henegouwen , GP , van Hattum , J , Keller , KM , Sinaasappel , M , Bijleveld , CA , Knol , IE , Ploos van Amstel , H-K , Pearson , PL , Berger , R , Freimer , NB & Houwen , RHJ 1997 , ' Benign recurrent intrahepatic cholestasis (BRIC): evidence of genetic heterogeneity and delimitation of the BRIC locus to a 7-cM interval between D18S69 and D18S64 ' , Human Genetics , ....

مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMM045407, name=EMC MM-04-54-07

وصف الملف: application/pdf

العلاقة: https://pure.eur.nl/en/publications/59875cb9-5129-44f5-aaab-34bcb8693435Test

الإتاحة: https://doi.org/10.1007/s004390050520Test
https://pure.eur.nl/en/publications/59875cb9-5129-44f5-aaab-34bcb8693435Test
https://pure.eur.nl/ws/files/46561230/art-3A10.1007-2Fs004390050520.pdfTest
http://hdl.handle.net/1765/60333Test

المؤلفون: Almomani, R, Verhagen, Judith, Herkert, JC, Brosens, Erwin, Spaendonck-Zwarts, KY, Asimaki, A, van der Zwaag, PA, Mulder, Ingrid, Bertoli Avella, AM, Boven, LG, van Slegtenhorst, Marjon, van der Smagt, JJ, van Ijcken, Wilfred, Timmer, B, van Stuijvenberg, M, Verdijk, Rob, Saffitz, JE, Plessis, Frederik, Michels, Michelle, Hofstra, Robert, Sinke, RJ, Tintelen, JP, Wessels, Marja, Jongbloed, JDH, De Graaf - van de Laar, Ingrid

المصدر: Almomani , R , Verhagen , J , Herkert , JC , Brosens , E , Spaendonck-Zwarts , KY , Asimaki , A , van der Zwaag , PA , Mulder , I , Bertoli Avella , AM , Boven , LG , van Slegtenhorst , M , van der Smagt , JJ , van Ijcken , W , Timmer , B , van Stuijvenberg , M , Verdijk , R , Saffitz , JE , Plessis , F , Michels , M , Hofstra , R , Sinke , RJ , Tintelen , JP , Wessels , M ....

الإتاحة: https://doi.org/10.1016/j.jacc.2015.10.093Test
https://pure.eur.nl/en/publications/f094a229-b1b0-47a4-a543-fec9ab89d8e1Test
http://hdl.handle.net/1765/97135Test

المؤلفون: Widowati, T, Melhem, Shamiram, Patria, S Y, de Graaf, Bianca, Sinke, RJ, Viel, M, Dijkhuis, J, Sadewa, A H, Purwohardjono, R, Soenarto, Y, Hofstra, Robert, Sribudiani, Y

المصدر: Widowati , T , Melhem , S , Patria , S Y , de Graaf , B , Sinke , RJ , Viel , M , Dijkhuis , J , Sadewa , A H , Purwohardjono , R , Soenarto , Y , Hofstra , R & Sribudiani , Y 2016 , ' RET and EDNRB mutation screening in patients with Hirschsprung disease: Functional studies and its implications for genetic counseling ' , European Journal of Human Genetics , vol. 24 , no. 6 , pp. 823-829 . https://doi.org/10.1038/ejhg.2015.214Test

الإتاحة: https://doi.org/10.1038/ejhg.2015.214Test
https://pure.eur.nl/en/publications/5d0dbb0b-871b-4907-ae0a-f3c2f63dfd72Test

المؤلفون: Jongbloed, JD, Posafalvi, A, Niessen, RC, Hoedemaekers, YM, van der Zwaag, PA, Barge-Schaapveld, DQ, Piers, SR, van der Smagt, JJ, Asselbergs, FW, de Boer, RA, van den Berg, MP, Almomani, R, Sinke, RJ, van Tintelen, JP

المساهمون: Human Genetics

المصدر: Circulation, 130(Suppl. 2). Lippincott Williams and Wilkins

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=narcis______::d68f980495d389b7da1e3b5ac533de72Test
https://pure.amc.nl/en/publications/genepanel-based-next-generation-sequencing-ngs-greatly-improves-clinical-genetic-diagnostics-in-inherited-cardiomyopathiesTest(02b9022f-9015-4585-a464-86effb7ece55).html