...
机译:PPP1R15B的错义突变会导致包括糖尿病,身材矮小和小头畸形的综合征
ULB Center for Diabetes Research, Universite Libre de Bruxelles, Brussels, Belgium;
Hoprtal Femme-Mere-Enfant, Division of Pediatric Endocrinology, Hospices Civils de Lyon, Lyon 1 University, Lyon, France,INSERM U870, Lyon, France,INSERM CIC201, Lyon, France;
ULB Center for Diabetes Research, Universite Libre de Bruxelles, Brussels, Belgium;
INSERM UMR-S958, Faculte de Medecine Paris Diderot, Paris, France,Universite Paris Diderot, Sorbonne Paris Cite, Paris, France;
INSERM UMR-S958, Faculte de Medecine Paris Diderot, Paris, France,Universite Paris Diderot, Sorbonne Paris Cite, Paris, France;
INSERM UMR-S958, Faculte de Medecine Paris Diderot, Paris, France,Universite Paris Diderot, Sorbonne Paris Cite, Paris, France;
INSERM UMR-S958, Faculte de Medecine Paris Diderot, Paris, France,Universite Paris Diderot, Sorbonne Paris Cite, Paris, France;
ULB Center for Diabetes Research, Universite Libre de Bruxelles, Brussels, Belgium;
ULB Center for Diabetes Research, Universite Libre de Bruxelles, Brussels, Belgium;
Cambridge Institute for Medical Research, University of Cambridge, and National Institute for Health Research Cambridge Biomedical Research Centre, Cambridge, U.K.;
Institut de Genomique, Centre National de Genotypage, Commissariat a l'Energie Atomique et aux Energies Alternatives, Evry, France;
Hoprtal Femme-Mere-Enfant, Division of Pediatric Endocrinology, Hospices Civils de Lyon, Lyon 1 University, Lyon, France;
University of Exeter Medical School, University of Exeter, Exeter, U.K.;
ULB Center for Diabetes Research, Universite Libre de Bruxelles, Brussels, Belgium;
Cambridge Institute for Medical Research, University of Cambridge, and National Institute for Health Research Cambridge Biomedical Research Centre, Cambridge, U.K.;
ULB Center for Diabetes Research, Universite Libre de Bruxelles, Brussels, Belgium,Division of Endocrinology, Erasmus Hospital, Brussels, Belgium;
INSERM UMR-S958, Faculte de Medecine Paris Diderot, Paris, France,Universite Paris Diderot, Sorbonne Paris Cite, Paris, France;
机译:真核翻译起始因子2alpha磷酸酶基因PPP1R15B的纯合突变与严重的小头畸形,身材矮小和智力障碍有关
机译:携带影响p.Arg1809的NF1错义突变的患者,包括身材矮小和肺动脉狭窄在内的Noonan综合征特征的高发病率:基因型-表型相关
机译:身材矮小,畸形,小头畸形和色素异常的女性的CRIPT外显子缺失和新的错义突变
机译:计算机建模氯喹对KCNJ2D172N和E299V突变的影响 - 链接短QT综合征
机译:具有肿瘤特异性高通量体细胞突变(CHASM)的肿瘤测序研究中检测到的体细胞错义突变的计算评估。
机译:PPP1R15B的错义突变会导致包括糖尿病身材矮小和小头畸形的综合征
机译:PPP1R15B的错义突变会导致包括糖尿病,身材矮小和小头畸形的综合征