机译:RPL13变体导致脊柱型哌啶发育不良,严重矮小
CHU Nantes Serv Genet Med F-44000 Nantes France;
Nantes Univ INSERM UMR 1238 Bone Sarcomas &
Remodeling Calcified Tissues F-44000 Nantes France;
Nantes Univ INSERM UMR 1238 Bone Sarcomas &
Remodeling Calcified Tissues F-44000 Nantes France;
Univ Toulouse Lab Biol Mol Eucaryote CBI UPS CNRS F-31062 Toulouse France;
Nantes Univ INSERM UMR 1238 Bone Sarcomas &
Remodeling Calcified Tissues F-44000 Nantes France;
Univ Nantes INSERM CNRS Inst Thorax F-44000 Nantes France;
Nantes Univ CNRS UMR 6286 UFIP F-44000 Nantes France;
INSERM Inflammat Res Ctr ERL 8252 U1149 F-75018 Paris France;
Univ Alabama Birmingham Dept Genet Birmingham AL 35233 USA;
Univ Alabama Birmingham Dept Genet Birmingham AL 35233 USA;
Univ Alabama Birmingham Dept Orthopaed Surg Childrens Alabama Birmingham AL 35233 USA;
Tel Aviv Sourasky Med Ctr Genet Inst IL-6423906 Tel Aviv Israel;
Tel Aviv Sourasky Med Ctr Dana Dwek Childrens Hosp Pediat Orthoped Dept IL-6423906 Tel Aviv;
Tel Aviv Sourasky Med Ctr Dana Dwek Childrens Hosp Pediat Orthoped Dept IL-6423906 Tel Aviv;
Nantes Univ INSERM UMR 1238 Bone Sarcomas &
Remodeling Calcified Tissues F-44000 Nantes France;
CHU Nantes Serv Genet Med F-44000 Nantes France;
CHU Nantes Serv Genet Med F-44000 Nantes France;
CHU Nantes Serv Genet Med F-44000 Nantes France;
CHU Nantes Serv Orthopedie Pediat F-44000 Nantes France;
CHU Nantes Serv Orthopedie Pediat F-44000 Nantes France;
CHU Nantes Serv Orthopedie Pediat F-44000 Nantes France;
CHU Tours Serv Chirurg Orthoped Pediat F-37044 Tours France;
CHU Tours CRB Tumorotheque F-37044 Tours France;
Nantes Univ INSERM UMR 1238 Bone Sarcomas &
Remodeling Calcified Tissues F-44000 Nantes France;
CHU Nantes Serv Genet Med F-44000 Nantes France;
Etab Francais Sang F-44000 Nantes France;
Univ Nantes INSERM CNRS Inst Thorax F-44000 Nantes France;
Ctr Genom &
Transcript D-72076 Tubingen Germany;
GeneDx Gaithersburg MD 20877 USA;
INSERM Inflammat Res Ctr ERL 8252 U1149 F-75018 Paris France;
CHU Tours Serv Genet F-37044 Tours France;
Univ Toulouse Lab Biol Mol Eucaryote CBI UPS CNRS F-31062 Toulouse France;
Nantes Univ CHU Nantes INSERM UMR 1238 Bone Sarcomas &
Remodeling Calcified Tissues F-44000;
CHU Nantes Serv Genet Med F-44000 Nantes France;
机译:新颖的
机译:患有严重骨骼发育不良和极端短地的患者的双层TMEM251变体
机译:新的先天性畸形综合症,伴有严重的身材矮小,颅突狭窄和两个兄弟姐妹的广泛性骨发育不良;两个兄弟姐妹中的新骨发育不良
机译:身材矮小的平等和可访问性中的运作与挑战
机译:血红蛋白C和其他变体血红蛋白红细胞的特征及其对严重疟疾的保护机制。
机译:RPL13变异导致严重矮小身材的脊椎干met端发育异常
机译:新型RPL13在人核糖病中的变体和可变临床表达与脊椎纤维素发育不良
机译:确定婴儿和儿童残疾的标准:身材矮小。证据报告/技术评估编号73