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机译:FAM46A突变负责常染色体隐性骨质发生不完全
Univ Paris 05 Dept Med Genet Hop Necker Enfants Malad INSERM U1163 Inst Imagine Paris France;
Univ Paris 05 Dept Med Genet Hop Necker Enfants Malad INSERM U1163 Inst Imagine Paris France;
Univ Paris 05 Dept Med Genet Hop Necker Enfants Malad INSERM U1163 Inst Imagine Paris France;
Giannina Gaslini Inst Dept Pediat Unit Rare Dis Genoa Italy;
CHU Rouen Dept Genet Ctr Normand Genom Med &
Med Personnalisee Rouen France;
Natl Res Ctr Ctr Excellence Human Genet Dept Clin Genet Human Genet &
Genome Res Div Cairo;
Univ Paris 05 Dept Med Genet Hop Necker Enfants Malad INSERM U1163 Inst Imagine Paris France;
Natl Res Ctr Ctr Excellence Human Genet Dept Clin Genet Human Genet &
Genome Res Div Cairo;
Univ Paris 05 Dept Med Genet Hop Necker Enfants Malad INSERM U1163 Inst Imagine Paris France;
Natl Res Ctr Ctr Excellence Human Genet Dept Clin Genet Human Genet &
Genome Res Div Cairo;
Univ Paris 05 Dept Med Genet Hop Necker Enfants Malad INSERM U1163 Inst Imagine Paris France;
CHU Rouen Dept Pediat Rouen France;
CHU Rouen Dept Pediat Surg Rouen France;
Univ Paris 05 Dept Med Genet Hop Necker Enfants Malad INSERM U1163 Inst Imagine Paris France;
Univ Paris 05 Dept Med Genet Hop Necker Enfants Malad INSERM U1163 Inst Imagine Paris France;
Univ Paris 05 Dept Med Genet Hop Necker Enfants Malad INSERM U1163 Inst Imagine Paris France;
Inst Salud Carlos II CIBERER Madrid Spain;
Univ Paris 05 Dept Med Genet Hop Necker Enfants Malad INSERM U1163 Inst Imagine Paris France;
Inst Salud Carlos II CIBERER Madrid Spain;
Univ Paris 05 Dept Med Genet Hop Necker Enfants Malad INSERM U1163 Inst Imagine Paris France;
机译:FAM46A突变负责常染色体隐性骨质发生不完全
机译:筛选中的新型化合物杂合酶突变引起稀有常染色体隐性骨质发生缺陷型X.
机译:具有常染色体隐性成骨的中药菌中SerpinF1和FKBP10基因的新型突变
机译:金毛犬常染色体隐性的IChthyosisis:PNPLA1突变等位基因在不同种群中的分布和频率
机译:隐性成骨不全:胶原蛋白脯氨酰3-羟基化复合物缺陷的患病率和病理生理学
机译:BMP1中的新型突变导致患者具有常染色体隐性骨质发生的患者
机译:CRTAP中的新化合物杂合酶突变导致稀有常染色体隐性骨质发生缺陷
机译:常染色体显性成骨不全中牙齿的扫描电子显微镜检查:支持遗传异质性