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机译:De Novo Sox6变体导致与ADHD,Craniosynosiss和Osteochondromas相关的神经发育综合征
Childrens Hosp Philadelphia Dept Surg Div Orthopaed Surg Philadelphia PA 19104 USA;
Childrens Hosp Philadelphia Dept Surg Div Orthopaed Surg Philadelphia PA 19104 USA;
Wayne State Univ Dept Obstet &
Gynecol Sch Med Detroit MI 48201 USA;
Univ Calif Los Angeles David Geffen Sch Med Dept Pediat Div Med Genet Los Angeles CA 90095 USA;
Childrens Hosp Los Angeles Div Med Genet Los Angeles CA 90027 USA;
Univ Calif Los Angeles David Geffen Sch Med Dept Pediat Div Med Genet Los Angeles CA 90095 USA;
Childrens Hosp Philadelphia Dept Surg Div Orthopaed Surg Philadelphia PA 19104 USA;
Childrens Hosp Philadelphia Dept Surg Div Orthopaed Surg Philadelphia PA 19104 USA;
Leiden Univ Dept Clin Genet Med Ctr NL-2300 LC Leiden Netherlands;
Leiden Univ Dept Clin Genet Med Ctr NL-2300 LC Leiden Netherlands;
Univ Toronto Hosp Sick Children Dept Pediat Div Clin &
Metab Genet Toronto ON M5G 1X8 Canada;
Univ Duisburg Essen Univ Hosp Essen Inst Human Genet D-45147 Essen Germany;
Univ Duisburg Essen Univ Hosp Essen Inst Human Genet D-45147 Essen Germany;
Univ Duisburg Essen Univ Hosp Essen Inst Human Genet D-45147 Essen Germany;
Univ Duisburg Essen Univ Hosp Essen Inst Human Genet D-45147 Essen Germany;
Univ Poitiers Neurovasc Unit F-86073 Poitiers France;
Univ Poitiers Neurovasc Unit F-86073 Poitiers France;
Univ Poitiers Neurovasc Unit F-86073 Poitiers France;
Grp Hosp Pitie Salpetriere Assistance Publ Hop Paris Dept Genet F-75013 Paris France;
Grp Hosp Pitie Salpetriere Assistance Publ Hop Paris Dept Genet F-75013 Paris France;
Ctr Hosp Univ Nice Hop Archet 2 Serv Genet 151 Route St Antoine Ginestiere F-062002 Nice France;
Univ Hosp Leuven Ctr Human Genet B-3000 Leuven Belgium;
Univ Hosp Leuven Ctr Human Genet Lab Mol Diag B-3000 Leuven Belgium;
Univ Pittsburgh Sch Med Childrens Hosp Pittsburgh Med Ctr Pittsburgh PA 15224 USA;
Univ Pittsburgh Sch Med Childrens Hosp Pittsburgh Med Ctr Pittsburgh PA 15224 USA;
Childrens Hosp Philadelphia Roberts Individualized Med Genet Ctr Div Human Genet Philadelphia;
Childrens Hosp Philadelphia Div Genom Diagnost Philadelphia PA 19104 USA;
Childrens Hosp Philadelphia Div Genom Diagnost Philadelphia PA 19104 USA;
Childrens Hosp Philadelphia Dept Surg Div Orthopaed Surg Philadelphia PA 19104 USA;
Childrens Hosp Philadelphia Roberts Individualized Med Genet Ctr Div Human Genet Philadelphia;
Childrens Hosp Philadelphia Div Genom Diagnost Philadelphia PA 19104 USA;
Univ Oxford John Radcliffe Hosp MRC Weatherall Inst Mol Med Oxford OX3 9DS England;
Univ Oxford John Radcliffe Hosp MRC Weatherall Inst Mol Med Oxford OX3 9DS England;
Univ Oxford John Radcliffe Hosp MRC Weatherall Inst Mol Med Oxford OX3 9DS England;
Nottingham Univ Hosp NHS Trust Clin Genet Serv City Hosp Campus Nottingham NG5 1PB England;
Univ Hosp Southampton NHS Fdn Trust Wessex Clin Genet Serv Southampton SO16 5YA Hants England;
GeneDx Gaithersburg MD 20877 USA;
GeneDx Gaithersburg MD 20877 USA;
GeneDx Gaithersburg MD 20877 USA;
GeneDx Gaithersburg MD 20877 USA;
Duke Univ Dept Pediat Div Med Genet Durham NC 27707 USA;
Duke Univ Dept Pediat Div Med Genet Durham NC 27707 USA;
Ctr Hosp Univ Grenoble Alpes Serv Genet Genom &
Procreat F-38700 La Tronche France;
Ctr Hosp Univ Grenoble Alpes Serv Genet Genom &
Procreat F-38700 La Tronche France;
Ctr Hosp Univ Grenoble Alpes Serv Genet Genom &
Procreat F-38700 La Tronche France;
Univ Colorado Dept Pediat Sect Genet Sch Med Aurora CO 80045 USA;
Univ Colorado Dept Pediat Sect Genet Sch Med Aurora CO 80045 USA;
Univ Med Ctr Ljubljana Clin Inst Med Genet Ljubljana 1000 Slovenia;
Univ Med Ctr Ljubljana Clin Inst Med Genet Ljubljana 1000 Slovenia;
Ctr Hosp Univ Nantes Serv Genet Med F-44000 Nantes France;
Ctr Hosp Univ Nantes Serv Genet Med F-44000 Nantes France;
Ctr Hosp Univ Nantes Serv Genet Med F-44000 Nantes France;
Ctr Hosp Univ Nantes Serv Genet Med F-44000 Nantes France;
Ctr Hosp Univ Le Mans Serv Cytogenet F-72037 Le Mans France;
Ctr Hosp Univ Le Mans Serv Cytogenet F-72037 Le Mans France;
Childrens Hosp Philadelphia Dept Surg Div Orthopaed Surg Philadelphia PA 19104 USA;
Ctr Hosp Univ Nantes Serv Genet Med F-44000 Nantes France;
机译:兼杂草综合征患者迅速进行多重性颅骨,患者和德诺维FGFR2致病变种
机译:TCF7L2中的Novo变体与综合征神经发育障碍有关
机译:人HIST1H4J基因中的DE Novo变体导致与HIST1H4C相关的神经发育障碍类似的综合症
机译:多种蛋白酶消化用SPS DE Novo方法在血红蛋白变体表征中的应用
机译:神经发育障碍中的Novo畸形突变
机译:De Novo Sox6变体导致与ADHD颅骨肌肤和骨质骨瘤相关的神经发育综合征
机译:De Novo Sox6变体导致与ADHD,颅骨肌肤和骨质骨瘤相关的神经发育综合征
机译:快速进入上市前批准和De Novo医疗器械用于未满足医疗需要的生命威胁或不可逆转的衰弱疾病或条件:工业和食品药品管理局工作人员指南。