المؤلفون: Unger, S, Ferreira, CR, Mortier, GR, Ali, H, Bertola, DR, Calder, A, Cohn, DH, Cormier-Daire, V, Girisha, KM, Hall, C, Krakow, D, Makitie, O, Mundlos, S, Nishimura, G, Robertson, SP, Savarirayan, R, Sillence, D, Simon, M, Sutton, VR, Warman, ML, Superti-Furga, A

المصدر: American journal of medical genetics. Part A. 191(5):1164-1209

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:151933337

المؤلفون: Savarirayan, R, Ireland, P, Irving, M, Thompson, D, Alves, I, Baratela, WAR, Betts, J, Bober, MB, Boero, S, Briddell, J, Campbell, J, Campeau, PM, Carl-Innig, P, Cheung, MS, Cobourne, M, Cormier-Daire, V, Deladure-Molla, M, del Pino, M, Elphick, H, Fano, V, Fauroux, B, Gibbins, J, Groves, ML, Hagenas, L, Hannon, T, Hoover-Fong, J, Kaisermann, M, Leiva-Gea, A, Llerena, J, Mackenzie, W, Martin, K, Mazzoleni, F, McDonnell, S, Meazzini, MC, Milerad, J, Mohnike, K, Mortier, GR, Offiah, A, Ozono, K, Phillips, JA, Powell, S, Prasad, Y, Raggio, C, Rosselli, P, Rossiter, J, Selicorni, A, Sessa, M, Theroux, M, Thomas, M, Trespedi, L, Tunkel, D, Wallis, C, Wright, M, Yasui, N, Fredwall, SO

المصدر: Nature reviews. Endocrinology. 18(3):173-189

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:148168299

المؤلفون: Hoornaert, KP, Vereecke, I, Dewinter, C, Rosenberg, T, Beemer, FA, Leroy, JG, Bendix, L, Bjorck, E, Bonduelle, M, Boute, O, Cormier-Daire, V, De Die-Smulders, C, Dieux-Coeslier, A, Dollfus, H, Elting, M, Green, A, Guerci, VI, Hennekam, RCM, Hilhorts-Hofstee, Y, Holder, M, Hoyng, C, Jones, KJ, Josifova, D, Kaitila, I, Kjaergaard, S, Kroes, YH, Lagerstedt, K, Lees, M, LeMerrer, M, Magnani, C, Marcelis, C, Martorell, L, Mathieu, M, McEntagart, M, Mendicino, A, Morton, J, Orazio, G, Paquis, V, Reish, O, Simola, KOJ, Smithson, SF, Temple, KI, Van Aken, E, Van Bever, Y, van den Ende, J, Van Hagen, JM, Zelante, L, Zordania, R, De Paepe, A, Leroy, BP, De Buyzere, M, Coucke, PJ, Mortier, GR

المصدر: European journal of human genetics : EJHG. 18(8):872-880

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:121050081

المؤلفون: Lindsay, ME, Schepers, D, Bolar, NA, Doyle, JJ, Gallo, E, Fert-Bober, J, Kempers, MJE, Fishman, EK, Chen, YC, Myers, L, Bjeda, D, Oswald, G, Elias, AF, Levy, HP, Anderlid, BM, Yang, MH, Bongers, EMHF, Timmermans, J, Braverman, AC, Canham, N, Mortier, GR, Brunner, HG, Byers, PH, Van Eyk, J, Van Laer, L, Dietz, HC, Loeys, BL

المصدر: Nature genetics. 44(8):922

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:125010068

المؤلفون: Jackson, GC, Mittaz-Crettol, L, Taylor, JA, Mortier, GR, Spranger, J, Zabel, B, Le Merrer, M, Cormier-Daire, V, Hall, CM, Offiah, A, Wright, MJ, Savarirayan, R, Nishimura, G, Ramsden, SC, Elles, R, Bonafe, L, Superti-Furga, A, Unger, S, Zankl, A, Briggs, MD

Relation: Jackson, G. C., Mittaz-Crettol, L., Taylor, J. A., Mortier, G. R., Spranger, J., Zabel, B., Le Merrer, M., Cormier-Daire, V., Hall, C. M., Offiah, A., Wright, M. J., Savarirayan, R., Nishimura, G., Ramsden, S. C., Elles, R., Bonafe, L., Superti-Furga, A., Unger, S., Zankl, A. & Briggs, M. D. (2012). Pseudoachondroplasia and Multiple Epiphyseal Dysplasia: A 7-Year Comprehensive Analysis of the Known Disease Genes Identify Novel and Recurrent Mutations and Provides an Accurate Assessment of Their Relative Contribution. HUMAN MUTATION, 33 (1), pp.144-157. https://doi.org/10.1002/humu.21611.; http://hdl.handle.net/11343/264653

الاتاحة: http://hdl.handle.net/11343/264653

المؤلفون: Mortier, GR, Cohn, DH, Cormier-Daire, V, Hall, C, Krakow, D, Mundlos, S, Nishimura, G, Robertson, S, Sangiorgi, L, Savarirayan, R, Sillence, D, Superti-Furga, A, Unger, S, Warman, ML

Relation: Mortier, G. R., Cohn, D. H., Cormier-Daire, V., Hall, C., Krakow, D., Mundlos, S., Nishimura, G., Robertson, S., Sangiorgi, L., Savarirayan, R., Sillence, D., Superti-Furga, A., Unger, S. & Warman, M. L. (2019). Nosology and classification of genetic skeletal disorders: 2019 revision. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 179 (12), pp.2393-2419. https://doi.org/10.1002/ajmg.a.61366.; http://hdl.handle.net/11343/286524

الاتاحة: http://hdl.handle.net/11343/286524

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, Toutain, A, Vreeburg, M, Wakeling, E, Knoers, NV, Coucke, P, Mortier, GR

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/keywords/researchprograms/AFL001000/EMCMGC029601, name=EMC MGC-02-96-01, /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, name=SDG 3 - Good Health and Well-being

الاتاحة: https://pure.eur.nl/en/publications/605c2ec0-c9be-4cfa-974d-cd02e5ac6ae3
https://doi.org/10.1002/ajmg.a.36922

المؤلفون: Schepers, D, Doyle, AJ, Oswald, G, Sparks, E, Myers, L, Willems, PJ, Mansour, S, Simpson, MA, Frysira, H, Maat-Kievit, A, van Minkelen, Rick, Hoogeboom, JM, Mortier, GR, Titheradge, H, Brueton, L, Starr, L, Stark, Z, Ockeloen, C, Lourenco, CM, Blair, E, Hobson, E, Hurst, J, Maystadt, I, Destree, A, Girisha, KM, Miller, M, Dietz, HC, Loeys, B, Van Laer, L

المصدر: Schepers , D , Doyle , AJ , Oswald , G , Sparks , E , Myers , L , Willems , PJ , Mansour , S , Simpson , MA , Frysira , H , Maat-Kievit , A , van Minkelen , R , Hoogeboom , JM , Mortier , GR , Titheradge , H , Brueton , L , Starr , L , Stark , Z , Ockeloen , C , Lourenco , CM , Blair , E , Hobson , E , Hurst , J , Maystadt , I , Destree , A , Girisha , ....

مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMGC029601, name=EMC MGC-02-96-01

Relation: https://pure.eur.nl/en/publications/f20c1366-9522-4e30-bdbe-fa3d84316fba

الاتاحة: https://pure.eur.nl/en/publications/f20c1366-9522-4e30-bdbe-fa3d84316fba
https://doi.org/10.1038/ejhg.2014.61

المؤلفون: null VAN CALENBERGH F, null SCHOENAERS J, null SCHUTYSER F, null CASAER P, null MORTIER GR, null FRIJNS JP

المصدر: Tijdschrift voor Geneeskunde. 58:461-465

مصطلحات موضوعية: General Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::d4303c70281636ed510152e1411e5b06
https://doi.org/10.2143/tvg.58.7.5001301

المؤلفون: Hoornaert, KP, Majawa-Elo, M, Batholdi, D, Bouma, MC, Bouman, K, Carrera, M, Devriendt, Koenraad, Hurst, J, Kitsos, G, Niedrist, D, Petersan, MB, Shears, D, Stolte-Dijkstra, I, Van Hagen, H, Ala-Kokko, L, Männikkö, M, Mortier, GR

Relation: European Journal of Human Genetics vol:14 issue:suppl 1 pages:115-116; European Human Genetics Conference 2006 in conjunction with the European Meeting on Psychosocial Aspects of Genetics location:Amsterdam, The Netherlands date:May 6-9, 2006; https://lirias.kuleuven.be/handle/123456789/271823

الاتاحة: https://lirias.kuleuven.be/handle/123456789/271823

المؤلفون: Hellemans, J, Debeer, Philippe, Wright, M, Janecke, A, Kjaer, KW, Verdonk, PC, Savarirayan, R, Basel, L, Moss, C, Roth, J, David, A, Coucke, P, Mortier, GR

Relation: Sixth Annual Meeting of the Belgian Society of Human Genetics location:Antwerp, Belgium date:February 17, 2006; https://lirias.kuleuven.be/handle/123456789/271802

الاتاحة: https://lirias.kuleuven.be/handle/123456789/271802

المؤلفون: null MORTIER GR

المصدر: Tijdschrift voor Geneeskunde. 56:1671-1676

مصطلحات موضوعية: General Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b94954ed097bb1d2b2df732062334e3f
https://doi.org/10.2143/tvg.56.23.5000912

المؤلفون: null MORTIER GR

المصدر: Tijdschrift voor Geneeskunde. 55:573-577

مصطلحات موضوعية: General Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::7b58e76aade802fbd785017bc7265ee4
https://doi.org/10.2143/tvg.55.8.5000416

المؤلفون: Mortier, GR, Nuytinck, L, Lambert, J, Naeyaert, JM, Leroy, JG

المصدر: AMERICAN JOURNAL OF HUMAN GENETICS ; ISSN: 0002-9297

Relation: https://biblio.ugent.be/publication/907249; http://hdl.handle.net/1854/LU-907249

الاتاحة: https://biblio.ugent.be/publication/907249
http://hdl.handle.net/1854/LU-907249

المؤلفون: Holden P, Canty EG, Mortier GR, Zabel B, Spranger J, Carr A, Grant ME, Loughlin JA, Briggs MD

المصدر: American Journal of Human Genetics, 23-12-2007

Relation: https://eprints.ncl.ac.uk/186780

الاتاحة: https://eprints.ncl.ac.uk/186780

المؤلفون: Dauwerse, JG, de Vries, BBA, Wouters, Cokkie, Bakker, Marije, Rappold, G, Mortier, GR, Breuning, MH, Peters, DJM

المصدر: Dauwerse , JG , de Vries , BBA , Wouters , C , Bakker , M , Rappold , G , Mortier , GR , Breuning , MH & Peters , DJM 2007 , ' A t(4;6)(q12;p23) translocation disrupts a membrane-associated O-acetyl transferase gene (MBOAT1) in a patient with a novel brachydactyly-syndactyly syndrome ' , European Journal of Human Genetics , vol. 15 , no. 7 , pp. 743-751 .

مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMGC029601, name=EMC MGC-02-96-01

الاتاحة: https://pure.eur.nl/en/publications/efc65108-319c-44b2-b6a8-95f87a9fb305

المؤلفون: Zankl A, Jackson GC, Crettol LM, Taylor J, Elles R, Mortier GR, Spranger J, Zabel B, Unger S, Le Merrer M, Cormier-Daire V, Hall CM, Wright MJ, Bonafe L, Superti-Furga A, Briggs MD

المصدر: European Journal of Human Genetics, 29-11-2006

Relation: https://eprints.ncl.ac.uk/76071

الاتاحة: https://eprints.ncl.ac.uk/76071

المؤلفون: Kennedy J, Jackson GC, Barker FS, Nundlall S, Bella J, Wright MJ, Mortier GR, Neas K, Thompson E, Elles R, Briggs MD

المصدر: Human Mutation, 06-05-2005

Relation: https://eprints.ncl.ac.uk/186734

الاتاحة: https://eprints.ncl.ac.uk/186734

المؤلفون: Jackson, Gail, Barker, FS, Jakkula, E, Czamy-Ratajczak, M, Makitie, O, Cole, WG, Wright, MJ, Smithson, SF, Suri, M, Rogala, P, Mortier, GR, Baldock, Clair, Wallace, A, Elles, Robert, Ala-Kokko, L, Briggs, Michael

المصدر: Jackson , G , Barker , FS , Jakkula , E , Czamy-Ratajczak , M , Makitie , O , Cole , WG , Wright , MJ , Smithson , SF , Suri , M , Rogala , P , Mortier , GR , Baldock , C , Wallace , A , Elles , R , Ala-Kokko , L & Briggs , M 2004 , ' Missense mutations in the beta strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia. ' , Journal of Medical Genetics , vol. 41 , no. 1 , pp. 52-59 . ....

مصطلحات موضوعية: Adolescent, genetics: Amino Acid Sequence, Child, Preschool, methods: DNA Mutational Analysis, genetics: Exons, chemistry: Extracellular Matrix Proteins, Female, genetics: Glycoproteins, genetics: Haplotypes, Humans, Male, Models, Molecular, Molecular Sequence Data, genetics: Mutation, Missense, genetics: Osteochondrodysplasias, Pedigree, chemistry: Peptides, genetics: Protein Structure, Tertiary, Research Support, Non-U.S. Gov't

الاتاحة: https://research.manchester.ac.uk/en/publications/3fbfc3ba-9297-4045-ab50-64e5bd68e3c2
https://doi.org/10.1136/jmg.2003.011429

المؤلفون: Jackson GC, Barker FS, Jakkula E, Czarny-Ratajczak M, Makitie O, Cole WG, Wright MJ, Smithson SF, Suri M, Rogala P, Mortier GR, Baldock C, Wallace A, Elles R, Ala-Kokko L, Briggs MD

المصدر: Journal of Medical Genetics, January 2004

Relation: https://eprints.ncl.ac.uk/68951

الاتاحة: https://eprints.ncl.ac.uk/68951