染色体-话题@MedSci

#染色体#

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染色体

2020-05-29

新生儿张玉军 (审核中...)

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#染色体#

Hum Mol Genet：编码泛素水解酶的USP48的突变与常染色体显性非综合征性遗传性听力损失有关

2021-06-27

新生儿张玉军 (审核中...)

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#染色体#

Otol Neurotol：一个新的EYA4拷贝数变异引起常染色体显性非综合征性听力损失

2021-05-01

新生儿张玉军 (审核中...)

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#染色体#

Br J Cancer：SKP1和CUL1表达降低引起高级别浆液性卵巢癌细胞染色体不稳定性的发生

2021-03-22

新生儿张玉军 (审核中...)

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#染色体#

Eur J Cancer：复发/难治性费城染色体阳性ALL患者采用博纳吐单抗治疗的长期疗效

2021-02-22

新生儿张玉军 (审核中...)

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#染色体#

Hum Mol Genet：NCOA3是常染色体显性渐进性听力损失的新候选基因

2021-01-17

新生儿张玉军 (审核中...)

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#染色体#

Blood：20号染色体缺失是乳房植入物相关间变性大细胞淋巴瘤的特征！

2021-01-07

新生儿张玉军 (审核中...)

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#染色体#

BRAIN：线粒体UQCRC1突变导致常染色体显性帕金森氏症伴多发性神经病

2021-01-02

新生儿张玉军 (审核中...)

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#染色体#

Mol Genet Genomic Med：TMC1和CDH23基因的新型纯合变异引起常染色体隐性非综合征性听力损失

2020-12-18

新生儿张玉军 (审核中...)

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#染色体#

Lancet Neurology：早老蛋白-1 E280A常染色体显性阿尔茨海默病家族中的血浆神经丝轻链：一项横断面和纵向队列研究

2020-12-08

新生儿张玉军 (审核中...)

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#染色体#

Blood：高风险费城染色体阴性ALL成年患者要不要进行allo-HSCT？

2020-11-22

新生儿张玉军 (审核中...)

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#染色体#

NEJM：达沙替尼-博纳吐单抗治疗费城染色体阳性急性淋巴细胞白血病

2020-10-24

新生儿张玉军 (审核中...)

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#染色体#

Acta Neuropathologica: 马尾副神经节瘤的免疫化学、DNA甲基化和染色体拷贝数特征不同于脊髓外副神经节瘤

2020-10-04

新生儿张玉军 (审核中...)

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#染色体#

Acta Neuropathologica: 人脑组织中1q染色体镶嵌三体与单侧多发性脑回、早发局灶性癫痫和严重发育迟缓有关

2020-10-03

新生儿张玉军 (审核中...)

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#染色体#

Blood：20号染色体丢失是乳房植入物相关间变性大细胞淋巴瘤的特征

2020-09-24

新生儿张玉军 (审核中...)

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#染色体#

Nat Commun：TMEM16A：常染色体显性多囊肾的治疗靶标！

2020-09-11

新生儿张玉军 (审核中...)

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#染色体#

Nature Genetics：癌症的武器是“进化”？科学家发现癌基因在染色体外DNA中扩增，可促进肿瘤发展

2020-08-22

新生儿张玉军 (审核中...)

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#染色体#

J Thromb Haemost：妊娠晚期并发症和染色体异常低风险女性抗磷脂抗体阳性的患病率

2020-08-14

新生儿张玉军 (审核中...)

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#染色体#

Nature：发布人类X染色体完成图，开启基因组学研究新纪元

2020-07-19

新生儿张玉军 (审核中...)

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#染色体#

Hum Genet：COCH新的功能缺失变异能够引起常染色体隐性非综合征听力损失

2020-07-12

新生儿张玉军 (审核中...)

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#染色体#

bioRxiv：英美研究警示：人类胚胎中的CRISPR基因编辑会造成染色体混乱

2020-07-09

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