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机译:白细胞发育异常,小头畸形,脑畸形(LMC):与2p16相关的新型隐性疾病
Clinical Genetics St Mary's Hospital Manchester Hathersage Road Manchester;
Department of Paediatrics Queens Park Hospital Blackburn;
Molecular Medicine Unit University of Leeds St James University Hospital Beckett Street Leeds;
Clinical Genetics Birmingham Women's Hospital Edgbaston Birmingham;
Department of Neuroradiology Frenchay Hospital Bristol;
Cambridge Institute of Medical Research University of Cambridge Addenbrooke's Hospital Hills Road Cambridge and;
Institute of Medical Genetics University Hospital of Wales Heath Park Cardiff UK;
leucodysplasia; microcephaly; cerebral malformation; autosomal recessive; neonatal seizures;
机译:白细胞增生,小头畸形,脑畸形(LMC):与2p16相关的新型隐性疾病。
机译:衔接蛋白复合物4(AP-4)缺乏会导致一种新型的常染色体隐性遗传性脑瘫综合征,并伴有小头畸形和智力障碍。
机译:具有小头畸形和智力低下的痉挛性脑瘫(CP)的常染色体隐性形式。
机译:脑动脉畸形畸形手术后神经功能障碍影响因素分析
机译:Forkhead盒R1介导的应力响应与人体微微畸形和进步性脑萎缩的情况相关联
机译:衔接蛋白复合-4(ap-4)缺乏引起的新的常染色体隐性遗传性脑畸形与和智力障碍麻痹综合征
机译:睫状病胰腺癌,小术,脑畸形(LMC):与2P16相关的新型隐性紊乱