机译:Kabuki综合征基因突变更新KMT2D和KDM6A,进一步描绘X-Libided Kabuki综合征亚型2
Univ Med Ctr Goettingen Inst Human Genet Gottingen Germany;
CHU Montpellier Lab Rare &
Autoinflammatory Dis Montpellier France;
Univ Cologne Inst Human Genet Cologne Germany;
KUSOM Dept Med Genet Istanbul Turkey;
Univ Cologne Inst Human Genet Cologne Germany;
Univ Cologne Inst Human Genet Cologne Germany;
Hacettepe Univ Dept Pediat Fac Med Pediat Genet Unit Ankara Turkey;
CHU Montpellier Lab Rare &
Autoinflammatory Dis Montpellier France;
Marmara Univ Dept Pediat Genet Fac Med Istanbul Turkey;
Univ Duesseldorf Inst Human Genet Dusseldorf Germany;
Tech Univ Dresden Inst Clin Genet Fac Med Carl Gustav Carus Dresden Germany;
CHU Montpellier Lab Rare &
Autoinflammatory Dis Montpellier France;
Tech Univ Munich Inst Human Genet Munich Germany;
CHU Montpellier Lab Rare &
Autoinflammatory Dis Montpellier France;
Princess Margaret &
King Edward Mem Hosp Genet Serv Western Australia Perth WA Australia;
INSERM Montpellier France;
Univ Cologne Cologne Ctr Genom Cologne Germany;
Istanbul Univ Dept Med Genet Istanbul Fac Med Istanbul Turkey;
Univ Paris 07 Denis Diderot Med Sch Dept Genet APHP Robert DEBRE Univ Hosp Paris France;
Nantes Univ Hosp Dept Genet Nantes France;
Bordeaux Univ Dept Med Genet CHU Bordeaux INSERM U1211 Bordeaux France;
Univ Montpellier Montpellier France;
Paris Descartes Sorbonne Paris Cite Univ Inst Imagine INSERM U1163 Paris France;
UCBL1 GENDEV Team CRNL HCL Genet Dept INSERM U1028 CNRS UMR 5292 Lyon France;
Archet II Hosp Dept Med Genet Nice France;
Paris Descartes Sorbonne Paris Cite Univ Inst Imagine INSERM U1163 Paris France;
Paris Descartes Sorbonne Paris Cite Univ Inst Imagine INSERM U1163 Paris France;
Univ Cologne Cologne Ctr Genom Cologne Germany;
Tech Univ Munich Inst Human Genet Munich Germany;
Hacettepe Univ Dept Pediat Fac Med Pediat Genet Unit Ankara Turkey;
Univ Med Ctr Goettingen Inst Human Genet Gottingen Germany;
Paris Descartes Sorbonne Paris Cite Univ Inst Imagine INSERM U1163 Paris France;
Tech Univ Dresden Inst Clin Genet Fac Med Carl Gustav Carus Dresden Germany;
Univ Paris 07 Denis Diderot Med Sch Dept Genet APHP Robert DEBRE Univ Hosp Paris France;
Tech Univ Dresden Inst Clin Genet Fac Med Carl Gustav Carus Dresden Germany;
CHU Montpellier Lab Rare &
Autoinflammatory Dis Montpellier France;
Univ Cologne Inst Human Genet Cologne Germany;
Univ Med Ctr Goettingen Inst Human Genet Gottingen Germany;
Univ Montpellier Montpellier France;
Univ Med Ctr Goettingen Inst Human Genet Gottingen Germany;
Univ Med Ctr Goettingen Inst Human Genet Gottingen Germany;
Kabuki syndrome; KDM6A; MLL2; KMT2D; UTY; KDM6C;
机译:歌舞uki综合症基因KMT2D和KDM6A的突变更新和X连锁歌舞uki综合症亚型2的进一步描述
机译:通过外显子组测序鉴定韩国歌舞uki症患者KMT2D和KDM6A突变
机译:具有Kabuki综合征表型和KDM6A移码突变的三代X连锁家庭
机译:RAS基因突变在急性髓性白血病和髓细胞增强综合征中:荟萃分析其发生和预后相关性
机译:kabuki综合征中神经发生缺陷的基础新见解
机译:扩大歌舞uki综合症的口腔-牙齿和突变谱以及人牙胚中KMT2D和KDM6A的表达
机译:致病性KDM6A变体中的临床描绘,性别差异和基因型 - 表型相关性,导致X-Linked kabuki综合征2型