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Arthur L. Beaudet

baylor college of medicine
H指数:123
被引数:5.8万

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荣誉奖项

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Antisense oligonucleotide therapy rescues disturbed brain rhythms and sleep in juvenile and adult mouse models of Angelman syndrome

反义寡核苷酸疗法可挽救少年和成年Angelman综合征小鼠模型的脑节律和睡眠紊乱

2023-01-037
OA
Extensive identification of genes involved in congenital and structural heart disorders and cardiomyopathy
2022-02-1728
OAAI
A resource of targeted mutant mouse lines for 5,061 genes

用于5,061基因的靶向突变小鼠系的资源

2021-04-0864
OAAI
CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels

CNVs引起常染色体隐性遗传疾病,无论是否涉及SNV/indels

2020-10-0138
OAAI
The Deep Genome Project
2020-02-0325
OAAI
Human and mouse essentiality screens as a resource for disease gene discovery
2020-01-3161
OAAI
Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy
2019-12-1931
OAAI
Reanalysis of Clinical Exome Sequencing Data
2019-06-20187
OAAI
Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions
2019-04-01143
OAAI
Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes
2019-03-0126
OAAI
Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA (vol 25, pg 439, 2019)
2019-02-204
OAAI
Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA
2019-01-28184
PREAI
Rapid and Integrative Discovery of Retina Regulatory Molecules
2018-08-0113
OAAI