Novel features of Helsmoortel–Van der Aa/ADNP syndrome in a boy with a known pathogenic mutation in the ADNP ADNP gene detected by exome sequencing

Li Chumei; Wang Yongdong; Szybowska Marta

首页> 外文期刊>American journal of medical genetics, Part A >Novel features of Helsmoortel–Van der Aa/ADNP syndrome in a boy with a known pathogenic mutation in the ADNP ADNP gene detected by exome sequencing

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Novel features of Helsmoortel–Van der Aa/ADNP syndrome in a boy with a known pathogenic mutation in the ADNP ADNP gene detected by exome sequencing

机译：在exme测序检测到的ADNP ADNP基因中的男孩中Helsmoortel-Van der AA / ADNP综合征的新功能

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来源
《American journal of medical genetics, Part A》 |2017年第7期|共2页
作者
Li Chumei; Wang Yongdong; Szybowska Marta;
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作者单位

HamiltonMcMaster University Medical CenterOntario Canada;

HamiltonMcMaster University Medical CenterOntario Canada;

HamiltonMcMaster University Medical CenterOntario Canada;

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原文格式 PDF
正文语种 eng
中图分类医学遗传学;
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入库时间 2022-08-20 02:16:06

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1. Novel features of Helsmoortel–Van der Aa/ADNP syndrome in a boy with a known pathogenic mutation in the ADNP ADNP gene detected by exome sequencing [J] . Li Chumei, Wang Yongdong, Szybowska Marta American journal of medical genetics, Part A . 2017,第7期

机译：在exme测序检测到的ADNP ADNP基因中的男孩中Helsmoortel-Van der AA / ADNP综合征的新功能
2. Additional Data on the Clinical Phenotype of Helsmoortel-Van der Aa Syndrome Associated with a Novel Truncating Mutation in ADNP Gene [J] . Krajewska-Walasek Malgorzata, Jurkiewicz Dorota, Piekutowska-Abramczuk Dorota, American journal of medical genetics, Part A . 2016,第6期

机译：Helsmoortel-Van der Aa综合征的临床表型与ADNP基因中的新型截短突变相关的其他数据
3. A heterozygous microdeletion of 20q13.13 encompassing ADNP gene in a child with Helsmoortel-van der Aa syndrome [J] . Minh-Tuan Huynh, Boudry-Labis Elise, Massard Alfred, European journal of human genetics: EJHG . 2018,第10a10期

机译：20 Q13.13的杂合微缺失，包括Helsmoortel-van der AA综合征的儿童中的ADNP基因
4. Homozygosity Mapping using Whole-Exome Sequencing: A Valuable Approach for Pathogenic Variant Identification in Genetic Diseases [C] . Jorge Oliveira, Rute Pereira, Rosario Santos, International Conference on Bioinformatics Models, Methods and Algorithms . 2017

机译：纯合子映射使用全exome测序：一种有价值的遗传疾病致病变异鉴定的方法
5. The use of next generation sequencing to detect plant pathogenic prokaryotes. [D] . Daniels, Jon. 2013

机译：使用下一代测序检测植物致病原核生物。
6. A heterozygous microdeletion of 20q13.13 encompassing ADNP gene in a child with Helsmoortel–van der Aa syndrome [O] . Minh-Tuan Huynh, Elise Boudry-Labis, Alfred Massard, 2018

机译：一名患有Helsmoortel–van der Aa综合征儿童的ADNP基因的20q13.13杂合微缺失
7. Microbiota changes associated with ADNP deficiencies: rapid indicators for NAP (CP201) treatment of the ADNP syndrome and beyond [O] . Oxana Kapitansky, Eliezer Giladi, Iman Jaljuli, 2020

机译：与ADNP缺陷相关的微生物群变化：NAP的快速指标（CP201）治疗ADNP综合征及更远

Novel features of Helsmoortel–Van der Aa/ADNP syndrome in a boy with a known pathogenic mutation in the ADNP ADNP gene detected by exome sequencing

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