A commentary on identification of the rare compound heterozygous variants in the NEB gene in a Korean family with intellectual disability, epilepsy and early-childhood-onset generalized muscle weakness

Pelin Katarina; Kiiski Kirsi; Lehtokari Vilma-Lotta; Wallgren-Pettersson Carina

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A commentary on identification of the rare compound heterozygous variants in the NEB gene in a Korean family with intellectual disability, epilepsy and early-childhood-onset generalized muscle weakness

机译：关于韩国家族中NEB基因稀有化合物杂合变种的评论，具有智力残疾，癫痫和早期儿童发病的广义肌肉弱点

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来源
《Journal of human genetics》 |2015年第3期|共2页
作者
Pelin Katarina; Kiiski Kirsi; Lehtokari Vilma-Lotta; Wallgren-Pettersson Carina;
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作者单位

Univ Helsinki Dept Neurosci Div Genet Helsinki Finland;

Biomedicum Helsinki Folkhalsan Inst Genet Helsinki Finland;

Biomedicum Helsinki Folkhalsan Inst Genet Helsinki Finland;

Biomedicum Helsinki Folkhalsan Inst Genet Helsinki Finland;

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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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1. A commentary on identification of the rare compound heterozygous variants in the NEB gene in a Korean family with intellectual disability, epilepsy and early-childhood-onset generalized muscle weakness [J] . Pelin Katarina, Kiiski Kirsi, Lehtokari Vilma-Lotta, Journal of human genetics . 2015,第3期

机译：鉴定患有智力障碍，癫痫和儿童早期发作的全身性肌无力的韩国家庭中NEB基因中罕见的复合杂合变体的评论
2. A commentary on identification of the rare compound heterozygous variants in the NEB gene in a Korean family with intellectual disability, epilepsy and early-childhood-onset generalized muscle weakness [J] . Pelin Katarina, Kiiski Kirsi, Lehtokari Vilma-Lotta, Journal of human genetics . 2015,第3期

机译：关于韩国家族中NEB基因稀有化合物杂合变种的评论，具有智力残疾，癫痫和早期儿童发病的广义肌肉弱点
3. A reply to a commentary on identification of the rare compound heterozygous variants in the NEB gene in a Korean family with intellectual disability, epilepsy and early-childhood-onset generalized muscle weakness [J] . Yim Shin-Young, Jeong Seon-Yong Journal of human genetics . 2015,第3期

机译：对韩国家族中NEB基因鉴定鉴定稀有化合物杂合变体的评论答复，具有智力残疾，癫痫和早期儿童发病的广义肌肉弱点
4. Identification of a Novel Compound Heterozygous Variant in NBAS Causing Bone Fragility by the Type of Osteogenesis Imperfecta [C] . D. A. Petukhova, E. E. Gurinova, A. L. Sukhomyasova, International Symposium on Bioinformatics Research and Applications . 2020

机译：通过成骨不全症类型鉴定导致骨骼脆弱的NBAS中的新型复合杂合变体
5. Copy number variants are frequent in genetic generalized epilepsy with intellectual disability [O] . Saul A. Mullen, Gemma L. Carvill, Susannah Bellows, -1

机译：拷贝数变异在具有智力障碍的遗传性全身癫痫中很常见
6. Correction: Copy number variants are frequent in genetic generalized epilepsy with intellectual disability [O] . 2014

机译：校正：拷贝数变体在具有智力残疾的遗传广义癫痫中经常出现

A commentary on identification of the rare compound heterozygous variants in the NEB gene in a Korean family with intellectual disability, epilepsy and early-childhood-onset generalized muscle weakness

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