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A Case of Fundus Oculi Albinoticus Diagnosed as Angelman Syndrome by Genetic Testing

机译：通过遗传检测诊断为Angelman综合征的眼底oculibalisoticus

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Yurie Fukiyama; Masahiro Tonari; Junko Matsuo; Hidehiro Oku; Jun Sugasawa; Shuichi Shimakawa; Tohru Ogihara; Nobuhiko Okamoto; Tsunehiko Ikeda;
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1. A Case of Fundus Oculi Albinoticus Diagnosed as Angelman Syndrome by Genetic Testing [J] . Ikeda T, Shimakawa S, Tonari M, Case Reports in Ophthalmology . 2018,第1期

机译：基因检测诊断眼白化病为Angelman综合征
2. Genetic testing for Prader-Willi syndrome and Angelman syndrome in the clinical practice of Guangdong Province, China [J] . Chang Liu, Xiangzhong Zhang, Jicheng Wang, Molecular cytogenetics . 2019,第1期

机译：中国广东省临床实践中PRADER-WILLI综合征和Angelman综合征的遗传测试
3. Challenges in Diagnosing Myelodysplastic Syndromes in the Era of Genetic Testing: Proceedings of the 13th Workshop of the European Bone Marrow Working Group [J] . Hebeda Konnie M., Tzankov Alexandar, Boudova Ludmila, Pathobiology: journal of immunopathology, molecular and cellular biology . 2019,第1期

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4. Angelman Syndrome: A Child's Journey to Communicate [C] . Beth Thompson Ninth Biennial Conference of the International Society for Augmentative and Alternative Communication Aug 2-6, 2000 Washington, DC . 2000

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5. Activity-Dependent Regulation of Extracellular UBE3A in a Novel Angelman Syndrome Rat Model [D] . Dodge, Andie. 2021

机译：一种新的Angelman综合征大鼠模型中细胞外UBE3A的活性依赖性调节
6. A Case of Fundus Oculi Albinoticus Diagnosed as Angelman Syndrome by Genetic Testing [O] . Yurie Fukiyama, Masahiro Tonari, Junko Matsuo, 2018

机译：基因检测诊断眼白化病为Angelman综合征
7. Evaluation of an in house genetic testing method for confirmation of Prader - Willi and Angelman syndromes in Sri Lanka [O] . Nirosha Panchananthan, Deepthi De Silva, Pyara Rathnayake, 2021

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A Case of Fundus Oculi Albinoticus Diagnosed as Angelman Syndrome by Genetic Testing

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