机译:双层MADD变体引起从发育延迟到多系统障碍的表型谱
Univ Med Ctr Hamburg Eppendorf Inst Human Genet Martinistr 52 D-20246 Hamburg Germany;
Univ Med Ctr Hamburg Eppendorf Inst Human Genet Martinistr 52 D-20246 Hamburg Germany;
Klinikum Oldenburg Klin Neuropadiat &
Angeborene Stoffwechselerkrank Oldenburg Germany;
Univ Med Ctr Hamburg Eppendorf Bioinformat Core Unit Hamburg Germany;
Univ Med Ctr Hamburg Eppendorf Dept Pediat Hamburg Germany;
Univ Med Ctr Hamburg Eppendorf Dept Pediat Hamburg Germany;
McGill Univ Dept Specialized Med Div Med Genet Hlth Ctr Montreal PQ Canada;
McGill Univ Dept Specialized Med Div Med Genet Hlth Ctr Montreal PQ Canada;
GeneDx Gaithersburg MD USA;
King Abdul Aziz Med City King Abdullah Specialized Childrens Hosp Dept Pediat Minist Natl Guard;
Icahn Sch Med Mt Sinai Dept Genet &
Genom Sci New York NY 10029 USA;
Ruhr Univ Bochum Univ Childrens Hosp Dept Neuropediat Bochum Germany;
Univ Med Ctr Leipzig Inst Human Genet Leipzig Germany;
Univ Leipzig Univ Klinikum Leipzig AoR Hosp Children &
Adolescents Leipzig Germany;
CeGaT GmbH Tubingen Germany;
CeGaT GmbH Tubingen Germany;
Univ Munich Dr von Hauner Childrens Hosp Munich Germany;
Medicover Humangenet Hannover Hannover Germany;
Fdn IRCCS Ca Granda Osped Maggiore Policlin Med Genet Unit Milan Italy;
Fdn IRCCS Ca Granda Osped Maggiore Policlin Child &
Adolescent Neuropsychiat Unit Milan Italy;
ASST Papa Giovanni XXIII Lab Genet Med Bergamo Italy;
Katholieke Univ Leuven Ctr Human Genet Leuven Belgium;
Katholieke Univ Leuven Dept Dev &
Regenerat Ctr Dev Disabil Leuven Belgium;
Katholieke Univ Leuven Ctr Metab Dis Leuven Belgium;
Hosp Univ La Paz Serv Pediat Unidad Patol Compleja Madrid Spain;
Hosp Univ La Paz Inst Genet Med &
Mol INGEMM ISCIII CIBERER IdiPAZ Madrid Spain;
Hosp Univ La Paz Inst Genet Med &
Mol INGEMM ISCIII CIBERER IdiPAZ Madrid Spain;
Univ Hosp Antwerp Ctr Med Genet Antwerp Belgium;
Univ Hosp Antwerp Dept Pediat Neurol Antwerp Belgium;
Univ Antwerp Dept Med Genet Antwerp Belgium;
UCL Queen Sq Inst Neurol Dept Neuromuscular Dis London England;
UCL Queen Sq Inst Neurol Dept Neuromuscular Dis London England;
Next Generat Genet Polyclin Mashhad Razavi Khorasan Iran;
Next Generat Genet Polyclin Mashhad Razavi Khorasan Iran;
Mashhad Univ Med Sci Fac Med Dept Med Genet Mashhad Razavi Khorasan Iran;
UCL Queen Sq Inst Neurol Dept Neuromuscular Dis London England;
Charles Univ Prague Fac Med 1 Dept Pediat &
Adolescent Med Res Unit Rare Dis Prague Czech;
Charles Univ Prague Fac Med 1 Dept Pediat &
Adolescent Med Res Unit Rare Dis Prague Czech;
Charles Univ Prague Fac Med 1 Dept Pediat &
Adolescent Med Prague Czech Republic;
Duke Univ Med Ctr Dept Pediat Div Med Genet Durham NC 27710 USA;
Univ S Florida Coll Med Div Genet &
Metab Tampa FL 33620 USA;
Icahn Sch Med Mt Sinai Dept Genet &
Genom Sci New York NY 10029 USA;
Rhein Westfal TH Aachen Med Fac Inst Human Genet Aachen Germany;
Univ Med Ctr Hamburg Eppendorf Inst Human Genet Martinistr 52 D-20246 Hamburg Germany;
Univ Med Ctr Hamburg Eppendorf Inst Human Genet Martinistr 52 D-20246 Hamburg Germany;
DENN; multisystem; whole-exome sequencing; intellectual disability; HSAN;
机译:评论:与多系统线粒体疾病相关的膀胱细胞贫血:PUS1 PUS1和COX10 COX10变体和MTDNA缺失的表型谱需要进行评估
机译:GNAO1变体的表型谱:癫痫性脑病至严重发展延迟的非自愿运动
机译:SMG9缺乏症综合征由纯合的畸形变种引起的:扩大这种发育障碍的基因型和表型谱
机译:电荷病例对照研究中的新生儿维生素D状况与自闭症谱系障碍和发育延迟有关
机译:具有无法解释的智力障碍或发育迟缓,先天性异常和自闭症谱系障碍的斯洛文尼亚儿童的基因组结构变异的特征。
机译:GNAO1变体的表型谱:癫痫性脑病至严重发展延迟的非自愿运动
机译:De Novo和Biallelic Def1变体导致表型光谱
机译:发育障碍,智力残疾和自闭症谱系障碍的基因检测。技术摘要第23号。