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机译:脑内UGP2的丧失导致严重的癫痫发作性,强调基本基因的双位等异构类特异性起始损失可导致遗传疾病
Erasmus MC Univ Med Ctr Dept Clin Genet Rotterdam Netherlands;
Erasmus MC Univ Med Ctr Dept Clin Genet Rotterdam Netherlands;
Erasmus MC Univ Med Ctr Dept Clin Genet Rotterdam Netherlands;
Erasmus MC Univ Med Ctr Dept Clin Genet Rotterdam Netherlands;
King Faisal Specialist Hosp &
Res Ctr Dept Genet Riyadh 11211 Saudi Arabia;
Univ Novi Sad Fac Med Novi Sad Dept Histol &
Embryol Novi Sad Serbia;
Erasmus MC Univ Med Ctr Dept Clin Genet Rotterdam Netherlands;
Erasmus MC Univ Med Ctr Dept Clin Genet Rotterdam Netherlands;
Erasmus MC Univ Med Ctr Dept Clin Genet Rotterdam Netherlands;
Erasmus MC Univ Med Ctr Dept Clin Genet Rotterdam Netherlands;
Erasmus MC Univ Med Ctr IPS Cell Core Facil Rotterdam Netherlands;
Univ Amsterdam Amsterdam UMC Amsterdam Neurosci Dept Neuropathol Amsterdam Netherlands;
Erasmus MC Univ Med Ctr Rotterdam Ctr Biom Dept Cell Biol Rotterdam Netherlands;
Erasmus MC Univ Med Ctr Dept Clin Genet Rotterdam Netherlands;
Erasmus MC Univ Med Ctr Rotterdam Dept Neurol Rotterdam Netherlands;
Erasmus MC Univ Med Ctr Dept Clin Genet Rotterdam Netherlands;
McMaster Childrens Hosp Div Genet Hamilton ON L8S 4J9 Canada;
McMaster Childrens Hosp Div Genet Hamilton ON L8S 4J9 Canada;
Stanford Univ Sch Med Div Cardiovasc Med Stanford CA 94035 USA;
Stanford Univ Sch Med Dept Pediat Div Med Genet Stanford CA 94035 USA;
GeneDx Gaithersburg MD 20877 USA;
GeneDx Gaithersburg MD 20877 USA;
GeneDx Gaithersburg MD 20877 USA;
Sultan Qaboos Univ Coll Med &
Hlth Sci Dept Child Hlth Muscat Oman;
Sultan Qaboos Univ Hosp Genet &
Dev Med Clin Muscat Oman;
Sultan Qaboos Univ Coll Med &
Hlth Sci Dept Child Hlth Muscat Oman;
Sultan Qaboos Univ Hosp Dept Radiol &
Mol Imaging Muscat Oman;
Radboud Univ Nijmegen Med Ctr Dept Human Genet Nijmegen Netherlands;
Mashhad Univ Med Sci Fac Med Dept Med Genet Mashhad Razavi Khorasan Iran;
Mashhad Univ Med Sci Fac Med Dept Med Genet Mashhad Razavi Khorasan Iran;
Genet Ctr Khorasan Razavi Mashhad Razavi Khorasan Iran;
Welf Org Sistan &
Baluchestan Genet Counseling Ctr Zahedan Iran;
Next Generat Genet Polyclin Dept Med Genet Mashhad Razavi Khorasan Iran;
St Georges Univ London Mol &
Clin Sci Inst Cranmer Terrace London SW17 0RE England;
UCL Queen Sq Inst Neurol Dept Neuromusc Disorders London WC1N 3BG England;
Childrens Hosp Dept Paediat Neurol Multan 60000 Pakistan;
Childrens Hosp Dept Paediat Neurol Multan 60000 Pakistan;
CENTOGENE AG Rostock Germany;
UAE Univ Al Ain Tawam Hosp Dept Pediat Al Ain U Arab Emirates;
CENTOGENE AG Rostock Germany;
King Faisal Specialist Hosp &
Res Ctr Dept Neurosci Riyadh 11211 Saudi Arabia;
King Saud Univ Coll Med Dept Pediat Div Neurol Riyadh 11461 Saudi Arabia;
King Faisal Specialist Hosp &
Res Ctr Dept Genet Riyadh 11211 Saudi Arabia;
King Faisal Specialist Hosp &
Res Ctr Dept Genet Riyadh 11211 Saudi Arabia;
King Faisal Specialist Hosp &
Res Ctr Dept Genet Riyadh 11211 Saudi Arabia;
King Faisal Specialist Hosp &
Res Ctr Dept Pathol &
Lab Med Riyadh 11211 Saudi Arabia;
King Faisal Specialist Hosp &
Res Ctr Dept Pathol &
Lab Med Riyadh 11211 Saudi Arabia;
King Faisal Specialist Hosp &
Res Ctr Dept Radiol Riyadh 11211 Saudi Arabia;
King Saud Univ Coll Med Dept Pediat Div Neurol Riyadh 11461 Saudi Arabia;
King Faisal Specialist Hosp &
Res Ctr Dept Pathol &
Lab Med Riyadh 11211 Saudi Arabia;
King Faisal Specialist Hosp &
Res Ctr Dept Obstet Gynecol Riyadh 11211 Saudi Arabia;
King Faisal Specialist Hosp &
Res Ctr Dept Pathol &
Lab Med Riyadh 11211 Saudi Arabia;
King Faisal Specialist Hosp &
Res Ctr Dept Cell Biol Riyadh 11211 Saudi Arabia;
King Faisal Specialist Hosp &
Res Ctr Dept Biostat Epidemiol &
Sci Comp Riyadh 11211 Saudi Arabia;
Shahid Sadoughi Univ Med Sci Med Genet Res Ctr Yazd Iran;
Shahid Sadoughi Univ Med Sci Diabet Res Ctr Yazd Iran;
Yale Univ Yale Sch Med Dept Neurosurg Program Neurogenet New Haven CT USA;
Yale Univ Yale Sch Med Dept Neurosurg Program Neurogenet New Haven CT USA;
Choithram Hosp &
Res Ctr Pediat Neurol Clin Dept Pediat Indore Madhya Pradesh India;
Childrens Hosp Dept Pediat Gastroenterol Lahore Pakistan;
UCL Queen Sq Inst Neurol Dept Neuromusc Disorders London WC1N 3BG England;
UCL Queen Sq Inst Neurol Dept Neuromusc Disorders London WC1N 3BG England;
CENTOGENE AG Rostock Germany;
Erasmus MC Univ Med Ctr Dept Clin Genet Rotterdam Netherlands;
GeneDx Gaithersburg MD 20877 USA;
UCL Queen Sq Inst Neurol Dept Neuromusc Disorders London WC1N 3BG England;
King Faisal Specialist Hosp &
Res Ctr Dept Genet Riyadh 11211 Saudi Arabia;
Erasmus MC Univ Med Ctr Dept Clin Genet Rotterdam Netherlands;
Erasmus MC Univ Med Ctr Dept Clin Genet Rotterdam Netherlands;
Epileptic encephalopathy; UGP2; ATG mutations; Start-loss mutation; Genetics; Whole exome sequencing; Microcephaly; Recurrent mutation; Founder mutation; Essential gene;
机译:脑内UGP2的丧失导致严重的癫痫发作性,强调基本基因的双位等异构类特异性起始损失可导致遗传疾病
机译:线粒体半胱氨酸-tRNA合酶基因CARS2的突变会导致严重的癫痫性脑病和复杂的运动障碍
机译:B3Galnt2相关的Dystroglycanopathy:扩增表型,具有与肌肉脑疾病,Walker-Warburg综合征,癫痫脑病 - 西方综合征和感觉神经听力损失相关的新突变
机译:癫痫脑病的遗传调查:最近的进展
机译:人类遗传疾病的多种机制:COL1A2基因的剪接顺序确定。影响成骨不全症中剪接位点突变和易位破坏SNRPN基因的效应会导致Prader-Willi综合征。
机译:双等位基因CSF1R突变导致骨骼发育异常的骨硬化-派尔病谱和变性脑病伴脑畸形
机译:脑内UGP2的丧失导致严重的癫痫脑病,强调生物等异构体的必要基因的特异性起始损失突变会导致遗传疾病