-
1دورية أكاديمية
المؤلفون: Jansen, S, Geuer, S, Pfundt, R, Brough, R, Ghongane, P, Herkert, JC, Marco, EJ, Willemsen, MH, Kleefstra, T, Hannibal, M, Shieh, JT, Lynch, SA, Flinter, F, FitzPatrick, DR, Gardham, A, Bernhard, B, Ragge, N, Newbury-Ecob, R, Bernier, R, Kvarnung, M, Magnusson, EAH, Wessels, MW, van Slegtenhorst, MA, Monaghan, KG, de Vries, P, Veltman, JA, Lord, CJ, Vissers, LELM, de Vries, BBA
المصدر: American journal of human genetics. 100(4):650-658
مصطلحات موضوعية: Medicin och hälsovetenskap
-
2دورية أكاديمية
المؤلفون: van Blokland, IV, Lanting, P, Ori, APS, Vonk, JM, Warmerdam, RCA, Herkert, JC, Boulogne, F, Claringbould, A, Lopera-Maya, EA, Bartels, M, Hottenga, J-J, Ganna, A, Karjalainen, J, Lifelines COVID-19 cohort study, COVID-19 Host Genetics Initiative, Hayward, C, Fawns-Ritchie, C, Campbell, A, Porteous, D, Cirulli, ET, Schiabor Barrett, KM, Riffle, S, Bolze, A, White, S, Tanudjaja, F, Wang, X, Ramirez, JM, Lim, YW, Lu, JT, Washington, NL, de Geus, EJC, Deelen, P, Boezen, HM, Franke, LH
مصطلحات موضوعية: Area Under Curve, COVID-19, Cross-Sectional Studies, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Phenotype, Polymorphism, Single Nucleotide, ROC Curve, SARS-CoV-2
وصف الملف: e0255402 - ?
العلاقة: PLoS One; https://qmro.qmul.ac.uk/xmlui/handle/123456789/93825Test
الإتاحة: https://doi.org/10.1371/journal.pone.0255402Test
https://qmro.qmul.ac.uk/xmlui/handle/123456789/93825Test -
3دورية أكاديمية
المؤلفون: Herkert, JC, Verhagen, Judith, Yotti, R, Haghighi, A, Phelan, DG, James, PA, Brown, NJ, Stutterd, C, Macciocca, I, Leong, K, Bulthuis, MLC, Bever, Yolande, van Slegtenhorst, Marjon, Boven, LG, Roberts, AE, Agarwal, R, Seidman, J, Lakdawala, NK, Fernandez-Aviles, F, Burke, MA, Pierpont, ME, Braunlin, E, Aaglayan, AO, Barge-Schaapveld, D, Birnie, E, Van Osch - Gevers, Lennie, van Langen, IM, Jongbloed, JD, Lockhart, PJ, Amor, DJ, Seidman, CE, De Graaf - van de Laar, Ingrid
المصدر: Herkert , JC , Verhagen , J , Yotti , R , Haghighi , A , Phelan , DG , James , PA , Brown , NJ , Stutterd , C , Macciocca , I , Leong , K , Bulthuis , MLC , Bever , Y , van Slegtenhorst , M , Boven , LG , Roberts , AE , Agarwal , R , Seidman , J , Lakdawala , NK , Fernandez-Aviles , F , Burke , MA , Pierpont , ME , Braunlin , E , Aaglayan , AO , Barge-Schaapveld , D , Birnie , ....
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1016/j.ahj.2020.03.023Test
https://pure.eur.nl/en/publications/5c3c332f-cef7-4286-9469-c8fed452065fTest
https://pure.eur.nl/ws/files/48326128/Repub_127495_O-A.pdfTest
http://hdl.handle.net/1765/127495Test -
4دورية أكاديمية
المؤلفون: Rossi, Alessandra, Blok, Lot Snijders, Alfieri, Paolo, Srivastava, Siddharth, Coulter, David, Smith, Lacey, Vinorum, Kristin, Cappuccio, Gerarda, Brunetti-Pierri, Nicola, Torun, Deniz, Arslan, Mutluay, Lauridsen, Mathilde F., Neuser, Sonja, Murch, Oliver, Irving, R, Lynch, SA, Mehta, SG, Carmichael, J, Zonneveld-Huijssoon, E, de Vries, B, Kleefstra, T, Johannesen, KM, Westphall, IT, Klöckner, Chiara, Hughes, SS, Smithson, S, Evans, J, Dudding-Byth, Tracy, Simon, M, van Binsbergen, E, Herkert, JC, Beunders, G, Oppermann, H, Bakal, M, Platzer, Konrad, Møller, RS, Rubboli, G, Bayat, A, Faivre, Laurence Olivier, Weigand, Heike, Dentici, Maria L., Tartaglia, Marco, Niceta, Marcello
المساهمون: The University of Newcastle. College of Health, Medicine & Wellbeing, School of Medicine and Public Health
مصطلحات موضوعية: autism, cupped ears, epilepsy, neurodevelopmental disorder, POU3F3
العلاقة: Clinical Genetics Vol. 104, Issue 2, p. 186-197; http://hdl.handle.net/1959.13/1490087Test; uon:52838
-
5دورية أكاديمية
المؤلفون: van der Linde, IHM, Hiemstra, YL, Bokenkamp, R, Mil, Annemieke, Breuning, MH, Ruivenkamp, C, ten Broeke, SW, Veldkamp, RF, Waning, Jaap, van Slegtenhorst, MA, Spaendonck-Zwarts, KY, Deprez, RHL, Herkert, JC, Boven, LA, van der Zwaag, PA, Jongbloed, JDH, Bootsma, M, Barge-Schaapveld, D
المصدر: van der Linde , IHM , Hiemstra , YL , Bokenkamp , R , Mil , A , Breuning , MH , Ruivenkamp , C , ten Broeke , SW , Veldkamp , RF , Waning , J , van Slegtenhorst , MA , Spaendonck-Zwarts , KY , Deprez , RHL , Herkert , JC , Boven , LA , van der Zwaag , PA , Jongbloed , JDH , Bootsma , M & Barge-Schaapveld , D 2017 , ' A Dutch MYH7 founder mutation, p.(Asn1918Lys), is associated with early onset cardiomyopathy and congenital heart defects ' , Netherlands ....
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1007/s12471-017-1037-5Test
https://pure.eur.nl/en/publications/5386d4cd-896e-43dc-9acd-527f1d3cc1ddTest
https://pure.eur.nl/ws/files/47862470/REPUB_103326-OA.pdfTest
http://hdl.handle.net/1765/103326Test -
6دورية أكاديمية
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
الإتاحة: https://doi.org/10.1136/jmedgenet-2019-106330Test
https://pure.eur.nl/en/publications/f40859a5-8d4b-49fa-9aa9-93c9d4140b27Test -
7دورية أكاديمية
المؤلفون: Verhagen, Judith, van den Born, Myrthe, Zondervan - van der Linde, Herma, Nikkels, PGJ, Verdijk, Rob, Kivlen, MH, Unen, Leontine, Baas, AF, van der Heide, H, Van Osch - Gevers, Lennie, Hoogeveen - Westerveld, Marianne, Herkert, JC, Bertoli Avella, AM, van Slegtenhorst, Marjon, Wessels, Marja, Verheijen, Frans, van Hassel, D, Hofstra, Robert, Hegde, RS, van Hasselt, PM, van Ham, Tjakko, De Graaf - van de Laar, Ingrid
المصدر: Verhagen , J , van den Born , M , Zondervan - van der Linde , H , Nikkels , PGJ , Verdijk , R , Kivlen , MH , Unen , L , Baas , AF , van der Heide , H , Van Osch - Gevers , L , Hoogeveen - Westerveld , M , Herkert , JC , Bertoli Avella , AM , van Slegtenhorst , M , Wessels , M , Verheijen , F , van Hassel , D , Hofstra , R , Hegde , RS , van Hasselt , PM , van Ham ....
الإتاحة: https://doi.org/10.1161/circgen.119.002507Test
https://pure.eur.nl/en/publications/07eca483-9917-4249-9019-9ec1ed061880Test
http://hdl.handle.net/1765/121147Test -
8دورية أكاديمية
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 -
9دورية أكاديمية
المؤلفون: Terhal, PA, Nievelstein, RJAJ, Verver, EJJ, Topsakal, V, van Dommelen, P, Hoornaert, K, Le Merrer, M, Zankl, A, Simon, MEH, Smithson, SF, Marcelis, C, Kerr, B, Clayton-Smith, J, Kinning, E, Mansour, S, Elmslie, F, Goodwin, L, van der Hout, AH, Veenstra-Knol, HE, Herkert, JC, Lund, AM, Hennekam, RCM, Megarbane, A, Lees, MM, Wilson, LC, Male, A, Hurst, J, Alanay, Y, Anneren, G, Betz, RC, Bongers, EMHF, Cormier-Daire, V, Dieux, A, David, A, Elting, MW, van den Ende, J, Green, A, van Hagen, JM, Hertel, NT, Holder-Espinasse, M, den Hollander, N, Homfray, T, Hove, HD, Price, S, Raas-Rothschild, A, Rohrbach, M, Schroeter, B, Suri, M, Thompson, EM, Tobias, ES
المصدر: Terhal , PA , Nievelstein , RJAJ , Verver , EJJ , Topsakal , V , van Dommelen , P , Hoornaert , K , Le Merrer , M , Zankl , A , Simon , MEH , Smithson , SF , Marcelis , C , Kerr , B , Clayton-Smith , J , Kinning , E , Mansour , S , Elmslie , F , Goodwin , L , van der Hout , AH , Veenstra-Knol , HE , Herkert , JC , Lund , AM , Hennekam , RCM , Megarbane , A , Lees , MM ....
مصطلحات موضوعية: /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, SDG 3 - Good Health and Well-being
الإتاحة: https://doi.org/10.1002/ajmg.a.36922Test
https://pure.eur.nl/en/publications/605c2ec0-c9be-4cfa-974d-cd02e5ac6ae3Test -
10دورية أكاديمية
المؤلفون: Maas, SM, Shaw, AC, Bikker, H, Ludecke, HJ, van der Tuin, K, Badura-Stronka, M, Belligni, E, Biamino, E, Bonati, MT, Carvalho, DR, Cobben, J, de Man, SA, den Hollander, NS, Di Donato, N, Garavelli, L, Gronborg, S, Herkert, JC, Hoogeboom, Jeannette, Maat-Kievit, JA, Jamsheer, A, Latos-Bielenska, A, Magnani, C, Marcelis, C, Mathijssen, IB, Nielsen, M, Otten, E, Ousager, LB, Pilch, J, Plomp, A, Poke, G, Poluha, A, Posmyk, R, Rieubland, C, Silengo, M, Steichen, E, Stumpel, C, Szakszon, K, Polonkai, E, van den Ende, J, van der Steen, A, van Essen, T, van Haeringen, A, van Hagen, JM, Verheij, JBGM, Mannens, MM, Hennekam, RC, Simon, MEH
المصدر: Maas , SM , Shaw , AC , Bikker , H , Ludecke , HJ , van der Tuin , K , Badura-Stronka , M , Belligni , E , Biamino , E , Bonati , MT , Carvalho , DR , Cobben , J , de Man , SA , den Hollander , NS , Di Donato , N , Garavelli , L , Gronborg , S , Herkert , JC , Hoogeboom , J , Maat-Kievit , JA , Jamsheer , A , Latos-Bielenska , A , Magnani , C , Marcelis , C , Mathijssen , ....
الإتاحة: https://doi.org/10.1016/j.ejmg.2015.03.002Test
https://pure.eur.nl/en/publications/55be3a9f-ad53-48c9-b688-120c2e5ca278Test
النص الكامل