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1دورية أكاديمية
المؤلفون: Koczkowska, M, Chen, YJ (Yuan Jia), Callens, T, Gomes, A, Sharp, A, Johnson, S, Hsiao, MC, Chen, ZB, Balasubramanian, M, Barnett, CP, Becker, TA, Ben-Shachar, S, Bertola, DR, Blakeley, JO, Burkitt-Wright, EMM, Callaway, A, Crenshaw, M, Cunha, KS, Cunningham, M, D'Agostino, MD, Dahan, K, Luca, A, Destree, A, Dhamija, R, Eoli, M, Evans, DGR, Galvin-Parton, P, George-Abraham, JK, Gripp, KW, Guevara-Campos, J, Hanchard, NA, Hernandez-Chico, C, Immken, L, Janssens, S, Jones, KJ, Keena, BA, Kochhar, A, Liebelt, J, Martir-Negron, A, Mahoney, MJ, Maystadt, I, McDougall, C, McEntagart, M, Mendelsohn, N, Miller, DT, Mortier, G, Morton, J, Pappas, J, Plotkin, SR, Pond, D, Rosenbaum, K, Rubin, K, Russell, L, Rutledge, LS, Saletti, V, Schonberg, R, Schreiber, A, Seidel, M, Siqveland, E, Stockton, DW, Trevisson, E, Ullrich, NJ, Upadhyaya, M, van Minkelen, Rick, Verhelst, H, Wallace, MR, Yap, YS, Zackai, E, Zonana, J, Zurcher, V, Claes, K, Martin, Y, Korf, BR, Legius, E, Messiaen, LM
المصدر: Koczkowska , M , Chen , YJ , Callens , T , Gomes , A , Sharp , A , Johnson , S , Hsiao , MC , Chen , ZB , Balasubramanian , M , Barnett , CP , Becker , TA , Ben-Shachar , S , Bertola , DR , Blakeley , JO , Burkitt-Wright , EMM , Callaway , A , Crenshaw , M , Cunha , KS , Cunningham , M , D'Agostino , MD , Dahan , K , Luca , A , Destree , A , Dhamija , R , Eoli , M ....
مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCOR01, name=EMC OR-01
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1016/j.ajhg.2017.12.001Test
https://pure.eur.nl/en/publications/fb7e5f89-506f-470b-9076-ae5d3b80e03aTest
https://pure.eur.nl/ws/files/47869611/REPUB_104143-OA.pdfTest
http://hdl.handle.net/1765/104143Test -
2دورية أكاديمية
المؤلفون: Frayling, IM, Mautner, VF, van Minkelen, Rick, Kallionpaa, RA, Aktas, S, Baralle, D, Ben-Shachar, S, Callaway, A, Cox, H, Eccles, DM, Ferkal, S, LaDuca, H, Lazaro, C (Conxi), Rogers, MT, Stuenkel, AJ, Summerour, P, Varan, A, Yap, YS, Zehou, O, Peltonen, J, Evans, DG, Wolkenstein, P, Upadhyaya, M
المصدر: Frayling , IM , Mautner , VF , van Minkelen , R , Kallionpaa , RA , Aktas , S , Baralle , D , Ben-Shachar , S , Callaway , A , Cox , H , Eccles , DM , Ferkal , S , LaDuca , H , Lazaro , C , Rogers , MT , Stuenkel , AJ , Summerour , P , Varan , A , Yap , YS , Zehou , O , Peltonen , J , Evans , DG , Wolkenstein , P & Upadhyaya , M 2019 , ' Breast cancer risk in ....
مصطلحات موضوعية: /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, SDG 3 - Good Health and Well-being
الإتاحة: https://doi.org/10.1136/jmedgenet-2018-105599Test
https://pure.eur.nl/en/publications/f742cb5f-e694-483b-812a-29c9199e3eb5Test
http://hdl.handle.net/1765/113329Test -
3دورية أكاديمية
المؤلفون: Rauen, KA, Alsaegh, A, Ben-Shachar, S, Berman, Y, Blakeley, J, Cordeiro, I, Elgersma, Ype, Evans, DG, Fisher, MJ, Frayling, IM, George, J, Huson, S M, Kerr, B, Khire, U, Korf, B, Legius, E, Messiaen, L, van Minkelen, Rick, Nampoothiri, S, Ngeow, J, Parada, LF, Phadke, S, Pillai, A, Plotkin, SR, Puri, R, Raji, A, Ramesh, V, Ratner, N, Shankar, SP, Sharda, S, Tambe, A, Vikkula, M, Widemann, BC, Wolkenstein, P, Upadhyaya, M
المصدر: Rauen , KA , Alsaegh , A , Ben-Shachar , S , Berman , Y , Blakeley , J , Cordeiro , I , Elgersma , Y , Evans , DG , Fisher , MJ , Frayling , IM , George , J , Huson , S M , Kerr , B , Khire , U , Korf , B , Legius , E , Messiaen , L , van Minkelen , R , Nampoothiri , S , Ngeow , J , Parada , LF , Phadke , S , Pillai , A , Plotkin , SR , Puri ....
الإتاحة: https://doi.org/10.1002/ajmg.a.61125Test
https://pure.eur.nl/en/publications/adc2f8ac-7df6-4ba6-85e8-e22732e33efdTest
http://hdl.handle.net/1765/116994Test -
4دورية أكاديمية
المؤلفون: Frayling, IM, Mautner, VF, van Minkelen, Rick, Kallionpaa, RA, Aktas, S, Baralle, D, Ben-Shachar, S, Callaway, A, Cox, H, Eccles, DM, Ferkal, S, LaDuca, H, Lazaro, C (Conxi), Rogers, MT, Stuenkel, AJ, Summerour, P, Varan, A, Yap, YS, Zehou, O, Peltonen, J, Evans, DG, Wolkenstein, P, Upadhyaya, M
المصدر: Frayling , IM , Mautner , VF , van Minkelen , R , Kallionpaa , RA , Aktas , S , Baralle , D , Ben-Shachar , S , Callaway , A , Cox , H , Eccles , DM , Ferkal , S , LaDuca , H , Lazaro , C , Rogers , MT , Stuenkel , AJ , Summerour , P , Varan , A , Yap , YS , Zehou , O , Peltonen , J , Evans , DG , Wolkenstein , P & Upadhyaya , M 2019 , ' Breast cancer risk in ....
مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCOR01, name=EMC OR-01, /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, name=SDG 3 - Good Health and Well-being
الإتاحة: https://doi.org/10.1136/jmedgenet-2018-105599Test
https://pure.eur.nl/en/publications/f742cb5f-e694-483b-812a-29c9199e3eb5Test
http://hdl.handle.net/1765/113329Test -
5دورية أكاديمية
المؤلفون: Rauen, KA, Alsaegh, A, Ben-Shachar, S, Berman, Y, Blakeley, J, Cordeiro, I, Elgersma, Ype, Evans, DG, Fisher, MJ, Frayling, IM, George, J, Huson, S M, Kerr, B, Khire, U, Korf, B, Legius, E, Messiaen, L, van Minkelen, Rick, Nampoothiri, S, Ngeow, J, Parada, LF, Phadke, S, Pillai, A, Plotkin, SR, Puri, R, Raji, A, Ramesh, V, Ratner, N, Shankar, SP, Sharda, S, Tambe, A, Vikkula, M, Widemann, BC, Wolkenstein, P, Upadhyaya, M
المصدر: Rauen , KA , Alsaegh , A , Ben-Shachar , S , Berman , Y , Blakeley , J , Cordeiro , I , Elgersma , Y , Evans , DG , Fisher , MJ , Frayling , IM , George , J , Huson , S M , Kerr , B , Khire , U , Korf , B , Legius , E , Messiaen , L , van Minkelen , R , Nampoothiri , S , Ngeow , J , Parada , LF , Phadke , S , Pillai , A , Plotkin , SR , Puri ....
مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCOR01, name=EMC OR-01
الإتاحة: https://doi.org/10.1002/ajmg.a.61125Test
https://pure.eur.nl/en/publications/adc2f8ac-7df6-4ba6-85e8-e22732e33efdTest
http://hdl.handle.net/1765/116994Test -
6دورية أكاديمية
المؤلفون: Rauen, KA, Huson, S M, Burkitt-Wright, E, Evans, DG, Farschtschi, S, Ferner, RE, Gutmann, DH, Hanemann, C O, Kerr, B, Legius, E, Parada, LF, Patton, M, Peltonen, J, Ratner, N, Riccardi, V M, Vaart, Thijs, Vikkula, M, Viskochi, D H, Zenker, M, Upadhyaya, M
المصدر: Rauen , KA , Huson , S M , Burkitt-Wright , E , Evans , DG , Farschtschi , S , Ferner , RE , Gutmann , DH , Hanemann , C O , Kerr , B , Legius , E , Parada , LF , Patton , M , Peltonen , J , Ratner , N , Riccardi , V M , Vaart , T , Vikkula , M , Viskochi , D H , Zenker , M & Upadhyaya , M 2015 , ' Recent Developments in Neurofibromatoses and RASopathies: Management, Diagnosis and Current and Future Therapeutic ....
الإتاحة: https://doi.org/10.1002/ajmg.a.36793Test
https://pure.eur.nl/en/publications/168e6498-2558-4655-87b3-331c4752bde0Test -
7دورية أكاديمية
المؤلفون: Rauen, KA, Huson, S M, Burkitt-Wright, E, Evans, DG, Farschtschi, S, Ferner, RE, Gutmann, DH, Hanemann, C O, Kerr, B, Legius, E, Parada, LF, Patton, M, Peltonen, J, Ratner, N, Riccardi, V M, Vaart, Thijs, Vikkula, M, Viskochi, D H, Zenker, M, Upadhyaya, M
المصدر: Rauen , KA , Huson , S M , Burkitt-Wright , E , Evans , DG , Farschtschi , S , Ferner , RE , Gutmann , DH , Hanemann , C O , Kerr , B , Legius , E , Parada , LF , Patton , M , Peltonen , J , Ratner , N , Riccardi , V M , Vaart , T , Vikkula , M , Viskochi , D H , Zenker , M & Upadhyaya , M 2015 , ' Recent Developments in Neurofibromatoses and RASopathies: Management, Diagnosis and Current and Future Therapeutic ....
مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCONWAR019401, name=EMC ONWAR-01-94-01
الإتاحة: https://doi.org/10.1002/ajmg.a.36793Test
https://pure.eur.nl/en/publications/168e6498-2558-4655-87b3-331c4752bde0Test -
8دورية أكاديمية
المؤلفون: Brems, H, Pasmant, E, van Minkelen, Rick, Wimmer, K, Upadhyaya, M, Legius, E, Messiaen, L
المصدر: Brems , H , Pasmant , E , van Minkelen , R , Wimmer , K , Upadhyaya , M , Legius , E & Messiaen , L 2012 , ' Review and update of SPRED1 mutations causing legius syndrome ' , Human Mutation , vol. 33 , no. 11 , pp. 1538-1546 . https://doi.org/10.1002/humu.22152Test
الإتاحة: https://doi.org/10.1002/humu.22152Test
https://pure.eur.nl/en/publications/b998a3f0-6017-47f2-8f66-1009749048c2Test
http://hdl.handle.net/1765/65753Test -
9دورية أكاديمية
المؤلفون: Brems, H, Pasmant, E, van Minkelen, Rick, Wimmer, K, Upadhyaya, M, Legius, E, Messiaen, L
المصدر: Brems , H , Pasmant , E , van Minkelen , R , Wimmer , K , Upadhyaya , M , Legius , E & Messiaen , L 2012 , ' Review and update of SPRED1 mutations causing legius syndrome ' , Human Mutation , vol. 33 , no. 11 , pp. 1538-1546 . https://doi.org/10.1002/humu.22152Test
مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMGC029601, name=EMC MGC-02-96-01
الإتاحة: https://doi.org/10.1002/humu.22152Test
https://pure.eur.nl/en/publications/b998a3f0-6017-47f2-8f66-1009749048c2Test
http://hdl.handle.net/1765/65753Test -
10دورية أكاديمية
المؤلفون: Upadhyaya, M, Kluwe, Lan, Spurlock, G, Monem, Bisma, Majounie, E, Mantripragada, K, Ruggieri, Martino, Chuzhanova, N, Evans, D G, Ferner, Rosalie, Thomas, N, Guha, A, Mautner, V
المصدر: Upadhyaya , M , Kluwe , L , Spurlock , G , Monem , B , Majounie , E , Mantripragada , K , Ruggieri , M , Chuzhanova , N , Evans , D G , Ferner , R , Thomas , N , Guha , A & Mautner , V 2008 , ' Germline and somatic NF1 gene mutation spectrum in NF1-associated malignant peripheral nerve sheath tumors (MPNSTs) ' , Human Mutation , vol. 29 , no. 1 , pp. 74-82 . https://doi.org/10.1002/humu.20601Test
الإتاحة: https://doi.org/10.1002/humu.20601Test
https://kclpure.kcl.ac.uk/portal/en/publications/0da9b86b-fad0-4b65-9a50-0a99f68d7cbbTest
