机译:31例Kabuki综合征和KMT2D突变患者的分子,临床和神经心理学研究
Univ Montpellier CHU Montpellier Hop Arnaud de Villeneuve INSERM Dept Genet Med Malad Rares &
Med;
Paris Descartes Sorbonne Paris Cite Univ Hop Necker Enfants Malad AP HP Serv Genet Inst Imagine;
CHRU Montpellier Dept Informat Med Montpellier France;
Hop Robert Debre Serv Genet Med Paris France;
Hop Robert Debre Serv Genet Med Paris France;
Hop Robert Debre Serv Genet Med Paris France;
CHU Serv Genet Tours France;
Univ Rennes 1 CNRS CHU Rennes Serv Genet Clin Hop Sud UMR Rennes France;
Univ Rennes 1 CNRS CHU Rennes Serv Genet Clin Hop Sud UMR Rennes France;
CHU Bordeaux INSERM U1211 Serv Genet Med Bordeaux France;
CHU Bordeaux INSERM U1211 Serv Genet Med Bordeaux France;
Univ Montpellier CHU Montpellier Hop Arnaud de Villeneuve INSERM Dept Genet Med Malad Rares &
Med;
Hop Univ Strasbourg Inst Genet Med Alsace Serv Genet Med Strasbourg France;
Univ Montpellier CHU Montpellier Hop Arnaud de Villeneuve INSERM Dept Genet Med Malad Rares &
Med;
CHU Dijon Ctr Genet Dijon France;
CHU Dijon Ctr Genet Dijon France;
Paris Descartes Sorbonne Paris Cite Univ Hop Necker Enfants Malad AP HP Serv Genet Inst Imagine;
Paris Descartes Sorbonne Paris Cite Univ Hop Necker Enfants Malad AP HP Serv Genet Inst Imagine;
Hop Necker Enfants Malad Serv Radiol Pediat Paris France;
Univ Paul Valery Montpellier EA 4556 Lab Epsylon Montpellier France;
CHU Bordeaux INSERM U1211 Serv Genet Med Bordeaux France;
CHU Bordeaux INSERM U1211 Serv Genet Med Bordeaux France;
Univ Montpellier CHU Montpellier Hop Arnaud de Villeneuve INSERM Dept Genet Med Malad Rares &
Med;
Paris Descartes Sorbonne Paris Cite Univ Hop Necker Enfants Malad AP HP Serv Genet Inst Imagine;
Paris Descartes Sorbonne Paris Cite Univ Hop Necker Enfants Malad AP HP Serv Genet Inst Imagine;
Paris Descartes Sorbonne Paris Cite Univ Hop Necker Enfants Malad AP HP Serv Genet Inst Imagine;
Univ Claude Bernard Lyon 1 Serv Genet HCL Lyon France;
CHRU Montpellier Dept Informat Med Montpellier France;
Univ Montpellier CHU Montpellier Hop Arnaud de Villeneuve INSERM Dept Genet Med Malad Rares &
Med;
genotype-phenotype correlation; Kabuki syndrome; KMT2D mutation; neuropsychology;
机译:31例Kabuki综合征和KMT2D突变患者的分子,临床和神经心理学研究
机译:解剖kabuki综合征患者Kabuki癌症突变突变
机译:Kabuki综合征患者癫痫患者与KMT2D突变的特征
机译:血小板糖蛋白ILB / IIIa抑制剂的长期临床结果与急性冠状动脉综合征患者低分子量肝素联合
机译:在以人群为基础的早发性大肠癌患者样本中预测定量模型预测Lynch综合征(遗传性非息肉病性大肠直肠癌,DNA失配修复缺陷)的准确性
机译:三例新型Kabuki综合征伴有马赛克KMT2D突变的临床和神经行为特征及文献复习
机译:在31名歌舞uki综合征和KMT2D突变患者中进行分子,临床和神经心理学研究