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- [34] De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndromeNATURE GENETICS, 2011, 43 (08) : 729 - 731Hoischen, Alexander论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlandsvan Bon, Bregje W. M.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, NetherlandsRodriguez-Santiago, Benjamin论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands Univ Pompeu Fabra, Dept Ciencies Expt & Salut, Barcelona, Spain CIBERER, Barcelona, Spain Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, NetherlandsGilissen, Christian论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, NetherlandsVissers, Lisenka E. L. M.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlandsde Vries, Petra论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, NetherlandsJanssen, Irene论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlandsvan Lier, Bart论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, NetherlandsHastings, Rob论文数: 0 引用数: 0 h-index: 0机构: St Michaels Hosp, Dept Clin Genet, Bristol, Avon, England Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, NetherlandsSmithson, Sarah F.论文数: 0 引用数: 0 h-index: 0机构: St Michaels Hosp, Dept Clin Genet, Bristol, Avon, England Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, NetherlandsNewbury-Ecob, Ruth论文数: 0 引用数: 0 h-index: 0机构: St Michaels Hosp, Dept Clin Genet, Bristol, Avon, England Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, NetherlandsKjaergaard, Susanne论文数: 0 引用数: 0 h-index: 0机构: Rigshosp, Univ Copenhagen Hosp, Dept Clin Genet, Copenhagen, Denmark Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, NetherlandsGoodship, Judith论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Inst Human Genet, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, NetherlandsMcGowan, Ruth论文数: 0 引用数: 0 h-index: 0机构: Yorkhill Hosp, Dept Med Genet, Glasgow, Lanark, Scotland Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, NetherlandsBartholdi, Deborah论文数: 0 引用数: 0 h-index: 0机构: Univ Zurich, Inst Med Genet, CH-8603 Schwerzenbach, Switzerland Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands论文数: 引用数: h-index:机构:Peippo, Maarit论文数: 0 引用数: 0 h-index: 0机构: Family Federat Finland, Dept Med Genet, Helsinki, Finland Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, NetherlandsCobben, Jan M.论文数: 0 引用数: 0 h-index: 0机构: Emma Kinderziekenhuis Acad Med Ctr AMC, Dept Pediat Genet, Amsterdam, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, NetherlandsWieczorek, Dagmar论文数: 0 引用数: 0 h-index: 0机构: Univ Klinikum Essen, Inst Humangenet, Essen, Germany Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, NetherlandsGillessen-Kaesbach, Gabriele论文数: 0 引用数: 0 h-index: 0机构: Univ Lubeck, Inst Humangenet Lubeck, Lubeck, Germany Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, NetherlandsVeltman, Joris A.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, NetherlandsBrunner, Han G.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlandsde Vries, Bert B. B. A.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands
- [35] De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndromeNature Genetics, 2011, 43 : 729 - 731Alexander Hoischen论文数: 0 引用数: 0 h-index: 0机构: Radboud University Nijmegen Medical Centre,Department of Human GeneticsBregje W M van Bon论文数: 0 引用数: 0 h-index: 0机构: Radboud University Nijmegen Medical Centre,Department of Human GeneticsBenjamín Rodríguez-Santiago论文数: 0 引用数: 0 h-index: 0机构: Radboud University Nijmegen Medical Centre,Department of Human GeneticsChristian Gilissen论文数: 0 引用数: 0 h-index: 0机构: Radboud University Nijmegen Medical Centre,Department of Human GeneticsLisenka E L M Vissers论文数: 0 引用数: 0 h-index: 0机构: Radboud University Nijmegen Medical Centre,Department of Human GeneticsPetra de Vries论文数: 0 引用数: 0 h-index: 0机构: Radboud University Nijmegen Medical Centre,Department of Human GeneticsIrene Janssen论文数: 0 引用数: 0 h-index: 0机构: Radboud University Nijmegen Medical Centre,Department of Human GeneticsBart van Lier论文数: 0 引用数: 0 h-index: 0机构: Radboud University Nijmegen Medical Centre,Department of Human GeneticsRob Hastings论文数: 0 引用数: 0 h-index: 0机构: Radboud University Nijmegen Medical Centre,Department of Human GeneticsSarah F Smithson论文数: 0 引用数: 0 h-index: 0机构: Radboud University Nijmegen Medical Centre,Department of Human GeneticsRuth Newbury-Ecob论文数: 0 引用数: 0 h-index: 0机构: Radboud University Nijmegen Medical Centre,Department of Human GeneticsSusanne Kjaergaard论文数: 0 引用数: 0 h-index: 0机构: Radboud University Nijmegen Medical Centre,Department of Human GeneticsJudith Goodship论文数: 0 引用数: 0 h-index: 0机构: Radboud University Nijmegen Medical Centre,Department of Human GeneticsRuth McGowan论文数: 0 引用数: 0 h-index: 0机构: Radboud University Nijmegen Medical Centre,Department of Human GeneticsDeborah Bartholdi论文数: 0 引用数: 0 h-index: 0机构: Radboud University Nijmegen Medical Centre,Department of Human GeneticsAnita Rauch论文数: 0 引用数: 0 h-index: 0机构: Radboud University Nijmegen Medical Centre,Department of Human GeneticsMaarit Peippo论文数: 0 引用数: 0 h-index: 0机构: Radboud University Nijmegen Medical Centre,Department of Human GeneticsJan M Cobben论文数: 0 引用数: 0 h-index: 0机构: Radboud University Nijmegen Medical Centre,Department of Human GeneticsDagmar Wieczorek论文数: 0 引用数: 0 h-index: 0机构: Radboud University Nijmegen Medical Centre,Department of Human GeneticsGabriele Gillessen-Kaesbach论文数: 0 引用数: 0 h-index: 0机构: Radboud University Nijmegen Medical Centre,Department of Human GeneticsJoris A Veltman论文数: 0 引用数: 0 h-index: 0机构: Radboud University Nijmegen Medical Centre,Department of Human GeneticsHan G Brunner论文数: 0 引用数: 0 h-index: 0机构: Radboud University Nijmegen Medical Centre,Department of Human GeneticsBert B B A de Vries论文数: 0 引用数: 0 h-index: 0机构: Radboud University Nijmegen Medical Centre,Department of Human Genetics
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