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    Severe neonatal hypotonia due to SLC30A5 variant affecting function of ZnT5 zinc transporter by Vadim Dolgin, Pauline Chabosseau, Jacob Bistritzer, Iris Noyman, Orna Staretz‐Chacham, Ohad Wormser, Noam Hadar, Marina Eskin‐Schwartz, Bibi Kanengisser‐Pines, Ginat Narkis, Ramy Abramsky, Eilon Shany, Guy A. Rutter, Kyla Marks, Ohad S. Birk

    Published 2025-01-01
    “…Combining homozygosity mapping and exome sequencing studies of consanguineous Bedouin kindred, as well as transfection experiments and zinc monitoring in HEK293 cells, we demonstrate that a bi‐allelic in‐frame 3bp deletion variant in SLC30A5, deleting isoleucine within the highly conserved cation efflux domain of the encoded ZnT5, results in lower cytosolic zinc concentrations, causing a syndrome of severe non‐progressive neonatal axial and limb hypotonia with high‐arched palate and respiratory failure. …”
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    Neutrophil-to-lymphocyte ratio as a prognostic indicator in COVID-19: Evidence from a northern tanzanian cohort. by Norman Jonas Kyala, Innocent Mboya, Elichilia Shao, Francis Sakita, Kajiru Gadiel Kilonzo, Laura Shirima, Abid Sadiq, Elifuraha Mkwizu, Nyasatu Chamba, Annette Marandu, Sophia Muhali, Faryal Raza, Eliasa Ndale, Damas Bayo, Daniel Mujuni, Furaha Lyamuya

    Published 2025-01-01
    “…The NLR cut-off value was determined using Receiver Operating Characteristic (ROC) analysis and assessed its predictive ability at admission for in-hospital mortality. The Chi-square test compared the proportion of NLR by patient characteristics. …”
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