A custom next generation sequencing panel to identify the cause of monogenic disorders of insulin secretion, disorders of sexual development and noonan syndrome

Ivan McGown; Mark Williams; Sam McManus; Tony Huynh; James Harraway

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A custom next generation sequencing panel to identify the cause of monogenic disorders of insulin secretion, disorders of sexual development and noonan syndrome

机译：定制的下一代测序小组可确定胰岛素分泌的单基因疾病，性发育疾病和Noonan综合征的原因

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来源
《International journal of pediatric endocrinology》 |2015年第1期|共页
作者
Ivan McGown; Mark Williams; Sam McManus; Tony Huynh; James Harraway;
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中图分类内分泌腺疾病及代谢病;
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入库时间 2022-08-18 09:21:41

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1. A Customized Next-Generation Sequencing-Based Panel to Identify Novel Genetic Variants in Dementing Disorders: A Pilot Study [J] . Giuseppe Lanza, Francesco Calì, Mirella Vinci, Journal of Neural Transplantation and Plasticity: Neural Plasticity . 2020,第Supplementa1期

机译：基于下一代测序的基于定制的基于序列的小组，以识别痴呆症中的新型遗传变体：试验研究
2. Targeted/exome sequencing identified mutations in ten Chinese patients diagnosed with Noonan syndrome and related disorders [J] . Shanshan Xu, Yanjie Fan, Yu Sun, BMC Medical Genomics . 2017,第1期

机译：靶向/外显子组测序确定了10名被诊断患有Noonan综合征和相关疾病的中国患者的突变
3. New monogenic disorders identify more pathways to neutropenia: from the clinic to next-generation sequencing [J] . Hematology . 2017,第1期

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4. Development, Validation, and Novel Findings of Non-Syndromic Orofacial Clefts Next Generation Sequencing Panel in Taiwanese Population [C] . Mei-Chia Wang, Po-Jen Cheng, Hsiu-Huei Peng, International Molecular Medicine Tri-Conference. . 2015

机译：在台湾人口中非综合征orofacial裂解下一代测序小组的开发，验证和新发现
5. Using Next Generation Sequencing (NGS) to identify and predict microRNAs (miRNAs) potentially affecting Schizophrenia and Bipolar Disorder [D] . Williamson, Vernell Seay 2012

机译：使用下一代测序（NGS）识别和预测可能影响精神分裂症和双相情感障碍的microRNA（miRNA）
6. A custom next generation sequencing panel to identify the cause of monogenic disorders of insulin secretion disorders of sexual development and noonan syndrome [O] . Ivan McGown, Mark Williams, Sam McManus, 2015

机译：定制的下一代测序小组可确定胰岛素分泌的单基因疾病性发育疾病和Noonan综合征的原因
7. A custom next generation sequencing panel to identify the cause of monogenic disorders of insulin secretion, disorders of sexual development and noonan syndrome [O] . Ivan McGown, Mark Williams, Sam McManus, 2015

机译：定制的下一代测序小组可确定胰岛素分泌的单基因疾病，性发育疾病和Noonan综合征的原因

A custom next generation sequencing panel to identify the cause of monogenic disorders of insulin secretion, disorders of sexual development and noonan syndrome

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