De novo microduplication of the FMR1 gene in a patient with developmental delay, epilepsy and hyperactivity.
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FMRP Expression Levels in Mouse Central Nervous System Neurons Determine Behavioral Phenotype.Genome annotation for clinical genomic diagnostics: strengths and weaknessesInsulin signaling is acutely required for long-term memory in Drosophila.Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome.FMRP regulates neurogenesis in vivo in Xenopus laevis tadpoles.Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome.Prenatal Diagnosis of Fragile X: Can a Full Mutation Allele in the FMR1 Gene Contract to a Normal Size?
P2860
Q30365865-DB4E557E-89B6-4C9A-AA4C-36C293A1CFC5Q33737782-EE3E9E3D-ABD8-4513-BB03-6F6AE7EDB2E7Q35161523-8C86D89D-BC70-4580-83F8-75F11AD28274Q39125843-BA2783C1-5D1A-44EF-9E8A-FF45E19A013AQ41112966-A01E84DC-33BC-4DD2-B34A-41FF03281F96Q41331099-2605BB41-E84A-4041-AC44-CE54D263785AQ45329800-A175BED1-1F4E-4AC1-A082-7B5B2FE22474
P2860
De novo microduplication of the FMR1 gene in a patient with developmental delay, epilepsy and hyperactivity.
description
2012 nî lūn-bûn
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2012年の論文
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2012年学术文章
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name
De novo microduplication of th ...... y, epilepsy and hyperactivity.
@ast
De novo microduplication of th ...... y, epilepsy and hyperactivity.
@en
type
label
De novo microduplication of th ...... y, epilepsy and hyperactivity.
@ast
De novo microduplication of th ...... y, epilepsy and hyperactivity.
@en
prefLabel
De novo microduplication of th ...... y, epilepsy and hyperactivity.
@ast
De novo microduplication of th ...... y, epilepsy and hyperactivity.
@en
P2093
P2860
P356
P1476
De novo microduplication of th ...... y, epilepsy and hyperactivity.
@en
P2093
Aditi S Parikh
Flora Tassone
Jaime Vengoechea
Shulin Zhang
P2860
P2888
P304
P356
10.1038/EJHG.2012.78
P577
2012-05-02T00:00:00Z