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A new syndrome of moyamoya disease, kidney dysplasia, aminotransferase elevation, and skin disease associated with de novo variants in RNF213

机译：一种新的Moyamoya疾病综合征，肾发育不良，氨基转移酶升高以及与RNF213中的德诺伊族变异相关的皮肤病

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Alanna Strong; Gina OGrady; Evelyn Shih; Jonathan R. Bishop; Kathleen Loomes; Tamir Diamond; Erum A. Hartung; William Wong; Sanmati Cuddapah; Anne Marie Cahill; Cuiping Hou; Diana Slater; Courtney Vaccaro; Deborah Watson; Dong Li; Hakon Hakonarson;
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1. Atypical presentation of moyamoya disease in an infant with a de novo RNF213 variant [J] . Harel Tamar, Posey Jennifer E., Graham Brett H., American journal of medical genetics, Part A . 2015,第11期

机译：从头发生RNF213变异的婴儿的烟雾病的非典型表现
2. De Novo Development of Moyamoya Disease in an Adult Female with a Genetic Variant of the RNF-213 Gene: Case Report [J] . Tashiro Ryosuke, Fujimura Miki, Niizuma Kuniyasu, Journal of stroke and cerebrovascular diseases: The official journal of National Stroke Association . 2017,第1期

机译：De Novo开发Moyamoya疾病在成年女性中，RNF-213基因的遗传变异：案例报告
3. Metabolic syndrome is linked to a mild elevation in liver aminotransferases in diabetic patients with undetectable non-alcoholic fatty liver disease by ultrasound [J] . Alireza Esteghamati, Arsia Jamali, Omid Khalilzadeh, Diabetology and Metabolic Syndrome . 2010,第12期

机译：代谢综合征与超声检测不到的非酒精性脂肪性肝病的糖尿病患者肝氨基转移酶轻度升高有关
4. Ungiographic Findings in European Moyamoya Disease and Moyamoya Syndrome [C] . N.Khan, B. Schuknecht, HG. Imhof, European Congress of Neurosurgery . 2003

机译：欧洲Moyamoya病和Moyamoya综合征的血管造影结果
5. The Influence of Chronic Kidney Disease, Apoptosis and Inflammatory Biomarkers on the Diagnosis, Prognosis and Management of Acute Coronary Syndromes. [D] . Cardinal, Heloise. 2012

机译：慢性肾脏病，细胞凋亡和炎性生物标志物对急性冠状动脉综合征的诊断，预后和管理的影响。
6. Atypical Presentation of Moyamoya Disease in an Infant with a de novo RNF213 Variant [O] . Tamar Harel, Jennifer E. Posey, Brett H. Graham, -1

机译：新生的RNF213变异婴儿的Moyamoya病的非典型表现
7. Metabolic syndrome is linked to a mild elevation in liver aminotransferases in diabetic patients with undetectable non-alcoholic fatty liver disease by ultrasound [O] . Alireza Esteghamati, Arsia Jamali, Omid Khalilzadeh, 2010

机译：代谢综合征与超声检测不到的非酒精性脂肪性肝病的糖尿病患者肝氨基转移酶轻度升高有关

A new syndrome of moyamoya disease, kidney dysplasia, aminotransferase elevation, and skin disease associated with de novo variants in RNF213

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