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A study of the clinical and radiological features in a coho..:
Terhal, Paulien A.
;
Nievelstein, Rutger Jan A. J.
;
Verver, Eva J. J.
...
American Journal of Medical Genetics Part A. 167 (2015) 3 - p. 461-475 , 2015
Link:
https://doi.org/10.1002/ajmg.a.36922
RT Journal T1
A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype
UL https://suche.suub.uni-bremen.de/peid=cr-10.1002_ajmg.a.36922&Exemplar=1&LAN=DE A1 Terhal, Paulien A. A1 Nievelstein, Rutger Jan A. J. A1 Verver, Eva J. J. A1 Topsakal, Vedat A1 van Dommelen, Paula A1 Hoornaert, Kristien A1 Le Merrer, Martine A1 Zankl, Andreas A1 Simon, Marleen E. H. A1 Smithson, Sarah F. A1 Marcelis, Carlo A1 Kerr, Bronwyn A1 Clayton‐Smith, Jill A1 Kinning, Esther A1 Mansour, Sahar A1 Elmslie, Frances A1 Goodwin, Linda A1 van der Hout, Annemarie H. A1 Veenstra‐Knol, Hermine E. A1 Herkert, Johanna C. A1 Lund, Allan M. A1 Hennekam, Raoul C. M. A1 Mégarbané, André A1 Lees, Melissa M. A1 Wilson, Louise C. A1 Male, Alison A1 Hurst, Jane A1 Alanay, Yasemin A1 Annerén, Göran A1 Betz, Regina C. PB Wiley YR 2015 SN 1552-4825 SN 1552-4833 JF American Journal of Medical Genetics Part A VO 167 IS 3 SP 461 OP 475 LK http://dx.doi.org/https://doi.org/10.1002/ajmg.a.36922 DO https://doi.org/10.1002/ajmg.a.36922 SF ELIB - SuUB Bremen
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