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| 36589922 | An induced pluripotent stem cell-derived NMJ platform for study of the NGLY1-Congenital Disorder of Deglycosylation. | Adv Ther (Weinh) | 2022 |
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| 36119806 | An open-label study evaluating the safety, behavioral, and electrophysiological outcomes of low-dose ketamine in children with ADNP syndrome. | HGG Adv | 2022 |
| 35044823 | Loss of IRF2BPL impairs neuronal maintenance through excess Wnt signaling. | Sci Adv | 2022 |
| 34889524 | Functional characterization and potential therapeutic avenues for variants in the NTRK2 gene causing developmental and epileptic encephalopathies. | Am J Med Genet B Neuropsychiatr Genet | 2022 |
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| 34051448 | An induced pluripotent stem cell line (NCATS-CL9075) from a patient carrying compound heterozygote mutations, p.R390P and p.L318P, in the NGLY1 gene. | Stem Cell Res | 2021 |
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| 34619643 | Generation of two gene corrected human isogenic iPSC lines (NCATS-CL6104 and NCATS-CL6105) from a patient line (NCATS-CL6103) carrying a homozygous p.R401X mutation in the NGLY1 gene using CRISPR/Cas9. | Stem Cell Res | 2021 |
| 33965046 | High-throughput protein modification quantitation analysis using intact protein MRM and its application on hENGase inhibitor screening. | Talanta | 2021 |
| 34051448 | An induced pluripotent stem cell line (NCATS-CL9075) from a patient carrying compound heterozygote mutations, p.R390P and p.L318P, in the NGLY1 gene. | Stem Cell Res | 2021 |
| 34225789 | Hormonal intervention for the treatment of veterans with COVID-19 requiring hospitalization (HITCH): a multicenter, phase 2 randomized controlled trial of best supportive care vs best supportive care plus degarelix: study protocol for a randomized controlled trial. | Trials | 2021 |
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| 30612078 | Generation of an induced pluripotent stem cell line (TRNDi002-B) from a patient carrying compound heterozygous p.Q208X and p.G310G mutations in the NGLY1 gene. | Stem Cell Res | 2019 |
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