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机译:用EEC / AEC综合征样表型和低钙蛋白血症鉴定Chuk Chuk的De Novo变体
Department of Orthodontics and Craniofacial BiologyRadboud university medical centerNijmegen The;
Department of Human GeneticsRadboud university medical centerNijmegen The Netherlands;
Centre for Molecular and Biomolecular InformaticsRadboud university medical centerNijmegen The;
Department of Pediatric Haematology and Oncology Cliniques Universitaires Saint‐LucUniversit;
Department of Pediatric Haematology and Oncology Cliniques Universitaires Saint‐LucUniversit;
Université Catholique de Louvain Cliniques Universitaires St LucService de Gastroentérologie et H;
Department of Human GeneticsRadboud university medical centerNijmegen The Netherlands;
Department of Human GeneticsRadboud university medical centerNijmegen The Netherlands;
Department of Human GeneticsRadboud university medical centerNijmegen The Netherlands;
Department of Orthodontics and Craniofacial BiologyRadboud university medical centerNijmegen The;
Centre for Molecular and Biomolecular InformaticsRadboud university medical centerNijmegen The;
Centre for Human GeneticsUniversité catholique de LouvainBrussels Belgium;
Department of Orthodontics and Craniofacial BiologyRadboud university medical centerNijmegen The;
Department of Human GeneticsRadboud university medical centerNijmegen The Netherlands;
Department of Human GeneticsRadboud university medical centerNijmegen The Netherlands;
AEC; Bartsocas–Papas syndrome; CHUK; cocoon syndrome; ectodermal dysplasia; EEC;
机译:用EEC / AEC综合征样表型和低钙蛋白血症鉴定Chuk Chuk的De Novo变体
机译:在土耳其患者中的人本综合征:De Novo变体C.607C> T在PACS1和低肝肿瘤血症表型
机译:患者患者中的DE Novo HDAC2 HDAC2变体与Cornelia de Lange综合征表型一致
机译:CottonPlus:棉花作物模拟理论和作物模型的方程Hal Lemmon,Ning Chuk
机译:鉴定肠球菌八个临床变异中与多种抗生素抗性基因相关的SNP
机译:患有AEC样表型免疫缺陷和1q21.1微缺失综合征的患者中CHUK的新型杂合病原体变异:病例报告
机译:在土耳其患者中的人本综合征:de novo变体c.607c> t在 pacs1 i> b>和下低血管蛋白血症表型