换一批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
第一作者：
Terhal, Paulien A.
作者：
Terhal, Paulien A. [1]
;
Nievelstein, Rutger Jan A. J. [2]
;
Verver, Eva J. J. [3]
;
Topsakal, Vedat [4]
;
van Dommelen, Paula [5]
;
Hoornaert, Kristien [6]
;
Le Merrer, Martine [7]
;
Zankl, Andreas [8]
;
Simon, Marleen E. H. [9]
;
Smithson, Sarah F. [10]
;
Marcelis, Carlo [11]
;
Kerr, Bronwyn [12]
;
Clayton-Smith, Jill [13]
;
Kinning, Esther [14]
;
Mansour, Sahar [15]
;
Elmslie, Frances [16]
;
Goodwin, Linda [17]
;
van der Hout, Annemarie H. [18]
;
Veenstra-Knol, Hermine E. [19]
;
Herkert, Johanna C. [20]
;
Lund, Allan M. [21]
;
Hennekam, Raoul C. M. [22]
;
Megarbane, Andre [23]
;
Lees, Melissa M. [24]
;
Wilson, Louise C. [25]
;
Male, Alison [26]
;
Hurst, Jane [27]
;
Alanay, Yasemin [28]
;
Anneren, Goeran [29]
;
Betz, Regina C. [30]
;
Bongers, Ernie M. H. F. [31]
;
Cormier-Daire, Valerie [32]
;
Dieux, Anne [33]
;
David, Albert [34]
;
Elting, Mariet W. [35]
;
van den Ende, Jenneke [36]
;
Green, Andrew [37]
;
van Hagen, Johanna M. [38]
;
Hertel, Niels Thomas [39]
;
Holder-Espinasse, Muriel [40]
;
den Hollander, Nicolette [41]
;
Homfray, Tessa ;
Hove, Hanne D. ;
Price, Susan ;
Raas-Rothschild, Annick ;
Rohrbach, Marianne ;
Schroeter, Barbara ;
Suri, Mohnish ;
Thompson, Elizabeth M. ;
Tobias, Edward S. ;
Toutain, Annick ;
Vreeburg, Maaike ;
Wakeling, Emma ;
Knoers, Nine V. ;
Coucke, Paul ;
Mortier, Geert R.
作者单位：
Univ Med Ctr Utrecht, Dept Med Genet, NL-3584 EA Utrecht, Netherlands
[1]
Odense Univ Hosp, HC Andersen Childrens Hosp, DK-5000 Odense, Denmark
[2]
Univ Bonn, Inst Human Genet, Bonn, Germany
[3]
Meir Med Ctr, Inst Med Genet, Kefar Sava, Israel
[4]
Univ Amsterdam, Acad Med Ctr, Dept Pediat, NL-1105 AZ Amsterdam, Netherlands
[5]
Univ Sydney, Acad Dept Med Genet, Discipline Genet Med, Sydney Childrens Hosp Network Westmead
[6]
Rigshosp, Dept Clin Genet, DK-2100 Copenhagen, Denmark
[7]
St Georges NHS Trust, SW Thames Reg Genet Serv, London, England
[8]
Nepean Hosp, Dept Genet, Penrith, NSW, Australia
[9]
Univ Glasgow, Coll Med Vet & Life Sci, Sch Med, Med Genet, Glasgow, Lanark, Scotland
[10]
So Gen Hosp, Dept Clin Genet, Glasgow G51 4TF, Lanark, Scotland
[11]
Hop Jeanne de Flandre, Serv Genet Clin, Lille, France
[12]
Univ Childrens Hosp Zurich, Connect Tissue Unit, Childrens Res Ctr, Div Metab, Zurich, Switzerland
[13]
Univ Med Ctr Utrecht, Rudolf Magnus Inst Neurosci, Dept Otorhinolaryngol & Head & Neck Surg, NL
[14]
Churchill Hosp, Dept Clin Genet, Oxford OX3 7LJ, England
[15]
Univ Groningen, Univ Med Ctr Groningen, Dept Genet, NL-9713 AV Groningen, Netherlands
[16]
Univ Med Ctr Utrecht, Dept Radiol, NL-3584 EA Utrecht, Netherlands
[17]
St Michaels Hosp, Dept Clin Genet, Bristol, Avon, England
[18]
Univ Med Ctr, Dept Clin Genet, Erasmus Med Ctr, Rotterdam, Netherlands
[19]
Univ Manchester, St Marys Hosp, Manchester Ctr Genom Med, Manchester M13 0JH, Lancs, England
[20]
Maastricht Univ, Med Ctr, Dept Clin Genet, NL-6200 MD Maastricht, Netherlands
[21]
Radboud Univ Nijmegen Med Ctr, Inst Genet & Metab Dis, Nijmegen Ctr Mol Life Sci, Dept Human Genet
[22]
Acibadem Univ, Sch Med, Dept Pediat, Pediat Genet Unit, Istanbul, Turkey
[23]
Paris Descartes Sorbonne Paris Cite Univ, Hop Necker Enfants Malad, Imagine Inst, Dept Genet,INSERM
[24]
Kinderspital Luzern, Luzern, Switzerland
[25]
Vrije Univ Amsterdam Med Ctr, Dept Clin Genet, Amsterdam, Netherlands
[26]
Univ Coll Dublin, Our Ladys Hosp Crumlin, Natl Ctr Med Genet, Dublin 2, Ireland
[27]
Copenhagen Univ Hosp, Dept Clin Genet, Ctr Inherited Metab Dis, Copenhagen, Denmark
[28]
Univ St Joseph, Unite Genet Med, Beirut, Lebanon
[29]
Womens & Childrens Hosp, SA Pathol, SA Clin Genet, Adelaide, SA, Australia
[30]
North West London Hosp NHS Trust, North West Thames Reg Genet Serv, London, England
[31]
Univ Antwerp, Univ Antwerp Hosp, Dept Med Genet, Edegem, Belgium
[32]
Great Ormond St Hosp Sick Children, Dept Clin Genet, London WC1N 3JH, England
[33]
Nottingham Univ Hosp NHS Trust, Nottingham Clin Genet Serv, Nottingham, England
[34]
Uppsala Univ, Sci Life Lab, Dept Immunol Genet & Pathol, Uppsala, Sweden
[35]
Hop Bretonneau, Serv Genet, Tours, France
[36]
CHU Nantes, Serv Genet Med, F-44035 Nantes 01, France
[37]
Univ Hosp Ghent, Dept Ophthalmol, Ghent, Belgium
[38]
Leiden Univ, Med Ctr, Dept Clin Genet, Leiden, Netherlands
[39]
Ghent Univ Hosp, Dept Med Genet, Ghent, Belgium
[40]
TNO, Dept Life Style, Leiden, Netherlands
[41]
发布时间
2015-05-08
- 浏览3
American journal of medical genetics, Part A
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