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Clinical Features of Optic Disc Drusen in an Ophthalmic Genetics Cohort
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Obstacles to Early Diagnosis of Gaucher Disease
Published 2025-01-01“…Samantha Nishimura,* Charis Ma,* Ellen Sidransky, Emory Ryan National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA*These authors contributed equally to this workCorrespondence: Ellen Sidransky, National Human Genome Research Institute, National Institutes of Health, Building 35A -1E623 Convent Drive, MSC 3708, Bethesda, MD, 20892-3708, USA, Tel +1-301-451-0901, Fax +301-402-6438, Email sidranse@nih.govAbstract: Gaucher disease (GD) is a rare lysosomal storage disorder resulting from a deficiency of the lysosomal enzyme glucocerebrosidase caused by biallelic variants in the GBA1 gene. …”
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ATF4-mediated expression of NOXA is critical for necroptosis driven by glucose deprivation
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A higher order PUF complex is central to regulation of C. elegans germline stem cells
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Reversal gene expression assessment for drug repurposing, a case study of glioblastoma
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Correction: Abcg2a is the functional homolog of human ABCG2 expressed at the zebrafish blood–brain barrier
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Lack of Detection of Xenotropic Murine Leukemia Virus-Related Virus in HIV-1 Lymphoma Patients
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Responses of Multipotent Retinal Stem Cells to IL-1β, IL-18, or IL-17
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The Art of Storytelling in Science: A Personal Journey
Published 2025-02-01“…Reflecting on formative “hot seat” sessions at the National Institutes of Health, in the United States, I emphasize the importance of structuring ideas clearly, regardless of language fluency. …”
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A structure-based designed small molecule depletes hRpn13Pru and a select group of KEN box proteins
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