...
机译:鉴定吉难表综合征2例患者ITPR1频道的新颖和热点突变
Medical Genetics Genetics and Rare Diseases Research Division Bambino Gesù Children's Hospital;
Molecular Genetics and Functional Genomics Genetics and Rare Diseases Research Division Bambino;
Unit of Neuromuscular and Neurodegenerative Disorders Laboratory of Molecular Medicine Department;
Research Laboratories Bambino Gesù Children's Hospital IRCCS;
Child Neuropsychiatry Department of Neurosciences Bambino Gesù Children's Hospital IRCCS;
Department of Hematology Oncology and Molecular Medicine Istituto Superiore di Sanità;
Molecular Genetics and Functional Genomics Genetics and Rare Diseases Research Division Bambino;
Unit of Epilepsy and Clinical Neurophysiology IRCCS E. Medea-Conegliano;
Ophthalmology Department Bambino Gesù Children's Hospital IRCCS;
Endocrinology Department of Pediatrics Bambino Gesù Children's Hospital IRCCS;
Unit of Neuromuscular and Neurodegenerative Disorders Laboratory of Molecular Medicine Department;
Molecular Genetics and Functional Genomics Genetics and Rare Diseases Research Division Bambino;
Unit of Neuromuscular and Neurodegenerative Disorders Laboratory of Molecular Medicine Department;
Inositol 1; 4; 5 tri-phosphate receptor (InsP3) type 1 (ITPR1); Partial aniridia; Cerebellar atrophy; Intellectual disability;
机译:鉴定吉难表综合征2例患者ITPR1频道的新颖和热点突变
机译:ITPR1引起的吉莱斯皮综合症的从头突变的限制库,具有显着负作用的证据
机译:Gillespie的综合征,具有轻微的小脑参与,没有与新的ITPR1突变相关的智力残疾:案件和文献审查的报告
机译:新加坡巴鲁达综合征患者SCN5A基因突变的谱
机译:hERG钾通道和长QT综合征基础突变的功能分析。
机译:隐性和显性De Novo ITPR1突变引起吉莱斯派综合征
机译:ITPR1引起的吉利斯皮综合症的de novo突变的限制库,具有显性负作用的证据