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Effects of inbreeding on reproductive success in endangered North Atlantic right whales
Published 2024-07-01Get full text
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Assessment of ring-tailed lemur Lemur catta populations in south-western Madagascar
Published 2024-03-01Get full text
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Channelopathy as a SUDEP Biomarker in Dravet Syndrome Patient-Derived Cardiac Myocytes
Published 2018-09-01Get full text
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The GBA1 D409V mutation exacerbates synuclein pathology to differing extents in two alpha-synuclein models
Published 2022-06-01Get full text
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A decade of declines in toothed whale densities following the Deepwater Horizon oil spill
Published 2024-12-01Get full text
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A proteogenomic view of Parkinson’s disease causality and heterogeneity
Published 2023-02-01Get full text
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The Open-Ocean Gulf of Mexico After Deepwater Horizon: Synthesis of a Decade of Research
Published 2022-05-01Get full text
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The unique effect of TDP-43 on hippocampal subfield morphometry and cognition
Published 2022-01-01Get full text
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Discrete Streamflow Measurements and Waterborne Self-Potential Logging of a 43-Kilometer-Long Reach of the Elm Fork Trinity River Upstream from Dallas, Texas
Published 2023-08-01“…WaSP data were measured from a kayak in January 2022 during a period of base flow along three individually surveyed reaches between the Lake Lewisville Dam and Frasier Dam on the Elm Fork. Together, these data indicated different parts of the Elm Fork functioned as either a gaining or losing stream depending on streamflow and seasonal climatic conditions. …”
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A 46,XY female DSD patient with bilateral gonadoblastoma, a novel SRY missense mutation combined with a WT1 KTS splice-site mutation.
Published 2012-01-01“…In 10-15% of 46,XY gonadal dysgenesis cases (i.e., Swyer syndrome), SRY mutations, residing in the HMG (High Mobility Group) domain, are found to affect nuclear transport or binding to and bending of DNA. Frasier syndrome (FS) is characterized by gonadal dysgenesis with a high risk for development of GB as well as chronic renal failure in early adulthood, and is known to arise from a splice site mutation in intron 9 of the Wilms' tumor 1 gene (WT1). …”
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