机译:COL1 COL1-相关重叠障碍:一种新的结缔组织障碍,包含骨质发生缺陷型/ ehlers-danlos综合征重叠
Laboratory of Medical Genetics Department of Molecular MedicineSapienza University San Camillo;
Division of Medical GeneticsFondazione IRCCS‐Casa Sollievo della SofferenzaSan Giovanni Rotondo;
Division of Biology and Genetics Department of Molecular and Translational MedicineUniversity of;
Division of Metabolism and Children's Research CentreUniversity Children's HospitalZurich;
Division of Biology and Genetics Department of Molecular and Translational MedicineUniversity of;
Maritime Medical Genetics ServiceDalhousie UniversityHalifax Canada;
Maritime Medical Genetics ServiceDalhousie UniversityHalifax Canada;
Laboratory of Medical GeneticsIRCCS Bambino Gesù Children HospitalRome Italy;
Laboratory of Medical GeneticsIRCCS Bambino Gesù Children HospitalRome Italy;
Department of Clinical GeneticsChildren's Health Ireland (CHI) at CrumlinCrumlin Ireland;
Unit of Rare DiseasesIRCCS Institute Gianna GasliniGenoa Italy;
Laboratory of Medical Genetics Department of Molecular MedicineSapienza University San Camillo;
Department of Clinical GeneticsChildren's Health Ireland (CHI) at CrumlinCrumlin Ireland;
Unit of Rare DiseasesIRCCS Institute Gianna GasliniGenoa Italy;
Laboratory of Medical GeneticsIRCCS Bambino Gesù Children HospitalRome Italy;
Laboratory of Medical Genetics Department of Molecular MedicineSapienza University San Camillo;
Center for Medical GeneticsGhent UniversityGhent Belgium;
Unit of BioinformaticsFondazione IRCCS‐Casa Sollievo della SofferenzaSan Giovanni Rotondo (Foggia;
The Platinum Medical CenterThe Wellington HospitalLondon UK;
Connective Tissue Unit Division of Metabolism and Children's Research CentreUniversity Children's;
Division of Biology and Genetics Department of Molecular and Translational MedicineUniversity of;
Division of Medical GeneticsFondazione IRCCS‐Casa Sollievo della SofferenzaSan Giovanni Rotondo;
COL1A1; COL1A2; Ehlers‐Danlos syndrome; joint hypermobility; osteogenesis imperfecta;
机译:COL1 COL1-相关重叠障碍:一种新的结缔组织障碍,包含骨质发生缺陷型/ ehlers-danlos综合征重叠
机译:COL1A2的新型突变导致成骨不全/ Ehlers-Danlos重叠综合征伴近视
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:3D深层卷积神经网络揭示了脑网络重叠在区分自闭症谱系障碍和健康对照方面的价值
机译:遗传学评估对疑似埃勒斯-丹洛斯综合症或其他可能的结缔组织病患者的价值
机译:I型胶原的螺旋突变影响氨基肽的加工导致成骨不全症/ Ehlers-Danlos综合征重叠综合征
机译:一种具有高毛细管ehlers-danlos综合征的临床特征的家庭中的新型Col1a1变体,被证明是Col1-相关的重叠障碍