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名词信息
中 文 名:
脆性X染色体综合征
英 文 名:
fragile X syndrome
中文又称:
中文曾称:
名词来源:
所属专业:
新生儿科
所属类别:
疾病诊断名词
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Pubmed相关的文献
fragile X syndrome
相关文献:
Fragile X syndrome.
Hagerman RJ, Berry-Kravis E, Hazlett HC, Bailey DB Jr, Moine H, Kooy RF, Tassone F, Gantois I, Sonenberg N, Mandel JL, Hagerman PJ.
Nat Rev Dis Primers. 2017 Sep 29;3:17065. doi: 10.1038/nrdp.2017.65.
PMID:28960184
Fragile X Syndrome: Introduction.
Reches A.
Methods Mol Biol. 2019;1942:3-10. doi: 10.1007/978-1-4939-9080-1_1.
PMID:30900171
State-of-the-art therapies for fragile X syndrome.
Protic D, Hagerman R.
Dev Med Child Neurol. 2024 Jul;66(7):863-871. doi: 10.1111/dmcn.15885. Epub 2024 Feb 22.
PMID:38385885
Channelopathies in fragile X syndrome.
Deng PY, Klyachko VA.
Nat Rev Neurosci. 2021 May;22(5):275-289. doi: 10.1038/s41583-021-00445-9. Epub 2021 Apr 7.
PMID:33828309
Fragile-X syndrome.
Berney T.
Practitioner. 1990 Nov;234(1496):946, 949-50.
PMID:2259686
Fragile X syndrome.
Wiebe E, Wiebe A.
Can Fam Physician. 1994 Feb;40:290-5.
PMID:8130676
Fragile X syndrome.
Garber KB, Visootsak J, Warren ST.
Eur J Hum Genet. 2008 Jun;16(6):666-72. doi: 10.1038/ejhg.2008.61. Epub 2008 Apr 9.
PMID:18398441
GABAergic abnormalities in the fragile X syndrome.
Van der Aa N, Kooy RF.
Eur J Paediatr Neurol. 2020 Jan;24:100-104. doi: 10.1016/j.ejpn.2019.12.022. Epub 2019 Dec 24.
PMID:31926845
Fragile X syndrome.
Donnenfeld AE.
Indian J Pediatr. 1998 Jul-Aug;65(4):513-8. doi: 10.1007/BF02730883.
PMID:10773898
Modelling fragile X syndrome in the laboratory setting: A behavioral perspective.
Melancia F, Trezza V.
Behav Brain Res. 2018 Sep 17;350:149-163. doi: 10.1016/j.bbr.2018.04.042. Epub 2018 Apr 25.
PMID:29704597
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