机译:Biallelic B3GALT6突变导致脊柱细胞增强蛋白酶-Danlos综合征
Ghent Univ Hosp Ctr Med Genet Ghent Ghent Belgium;
Univ Lorraine MolCelTEG Team UMR 7365 CNRS Vandoeuvre Les Nancy France;
Ghent Univ Hosp Ctr Med Genet Ghent Ghent Belgium;
Univ Lorraine MolCelTEG Team UMR 7365 CNRS Vandoeuvre Les Nancy France;
Ghent Univ Hosp Ctr Med Genet Ghent Ghent Belgium;
Univ Ghent Dept Biomed Mol Biol Ghent Belgium;
CHR Citadelle Ctr Rhumatol Liege Belgium;
Maastricht UMC Dept Clin Genet Maastricht Netherlands;
Radboud UMC Dept Human Genet Nijmegen Netherlands;
Kariminejad Najmabadi Pathol &
Genet Ctr Tehran Iran;
Amrita Inst Med Sci &
Res Ctr Dept Pediat Genet Cochin Kerala India;
CHU Liege Serv Genet Med Liege Belgium;
CHU Liege Serv Genet Med Liege Belgium;
Univ Colorado Dept Pediat Sch Med Aurora CO USA;
Univ Colorado Dept Pediat Sch Med Aurora CO USA;
Univ Med Ctr Utrecht Dept Med Genet Utrecht Netherlands;
Hop Europeen Georges Pompidou Ctr Reference Malad Vasc Rares Paris France;
CHU Caen Serv Genet Clin Caen France;
Ghent Univ Hosp Ctr Med Genet Ghent Ghent Belgium;
Univ Lorraine MolCelTEG Team UMR 7365 CNRS Vandoeuvre Les Nancy France;
Ghent Univ Hosp Ctr Med Genet Ghent Ghent Belgium;
机译:Biallelic B3GALT6突变导致脊柱细胞增强蛋白酶-Danlos综合征
机译:由FKBP14中的双层突变引起的17例盲肠蛋白酶综合征的17名患者:扩大临床和突变谱和自然历史的描述
机译:通过全外显子组测序确定的COL1A1杂合突变和TNXB中的双等位基因错义变体导致成骨不全症和Ehlers-Danlos综合征的表型重叠
机译:拉曼光谱法在体内检测到的高运动性和Ehlers-Danlos综合征的胶原蛋白结构变化
机译:对DNA复制修复和癌症的研究:双层不匹配修复缺陷综合征的见解
机译:扩大B4GALT7-脊柱增生异常性Ehlers-Danlos综合征的临床和突变谱
机译:扩大B4GALT7-脊柱增生性Ehlers-Danlos综合征的临床和突变谱