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Case report: A novel 11-bp deletion in exon 11 causing a frameshift in the C-terminal of the ALAS2 gene leading to X-linked sideroblastic anemia—a family study
Published 2025-02-01“…Herein, we report a novel 11-bp deletion in exon 11 leading to a frameshift in the C-terminal region of the ALAS2 gene with a non-functional longer polypeptide of 614 amino acids leading to a loss-of-function mutation manifested as an X-linked sideroblastic anemia phenotype. …”
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Human Geography : landscapes of human activities /
Published 2007Table of contents
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503
CD38 deficiency leads to a defective short-lived transcriptomic response to chronic graft-versus-host disease induction, involving purinergic signaling-related genes and distinct transcriptomic signatures associated with lupus
Published 2025-02-01“…These analyses revealed a sustained upregulation of a transcriptional profile of purinergic receptors and ectonucleotidases in cGVHD WT PECs, which displayed a coordinated expression with several type I interferon-stimulated genes (ISGs) and with key molecules involved in the cyclic GMP-AMP synthase-stimulator of interferon genes (cGAS-STING) signaling pathway, two hallmarks in the lupus pathology. …”
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Differentiation of Lynch syndrome from other forms of non-polyposis colorectal cancer among Russian patients
Published 2014-08-01Subjects: Get full text
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Molecular genetic factors influencing outcomes of <i>Helicobacter pylori</i> infection at Khakasia republic inhabitants
Published 2010-08-01Subjects: “…allelic polymorphism of genes…”
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The Genetic Basis of Congenital Cataracts: Advances in Diagnostics and Therapeutics
Published 2025-02-01Subjects: Get full text
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Utilisation of an in vivo malaria model to provide functional proof for RhopH1/CLAG essentiality and conserved orthology with P. falciparum
Published 2025-02-01Subjects: Get full text
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Genome-wide identification and expression analysis of ZF-HD family in sunflower (Helianthus annuus L.) under drought and salt stresses
Published 2025-02-01Subjects: Get full text
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Therapeutic landscape for inherited ocular diseases: current and emerging therapies
Published 2023-01-01Subjects: Get full text
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512
Characterization of the sunflower oil-based oleogel developed by the ferulic acid/monoglyceride mixture and its application in chocolate preparation
Published 2025-01-01“…The rectangular FA and needle-shaped MG crystals in the oleogel interlock with each other to form a 3D network, restricting the flow of oil. The gel strength and rheological performance of the oleogel were positively correlated with c and negatively correlated with storage temperature (t). …”
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513
Cocoa (Chocolate Bean) Growing in the Florida Home Landscape
Published 2006-10-01“…Crane, Carlos F. Balerdi, and Gene Joyner, provides homeowners with a basic reference for growing cocoa (chocolate bean) in the home landscape. …”
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Characterization and Pickering emulsifying ability of Adinandra nitida leaf polysaccharides
Published 2025-01-01“…When the addition amount (c) ≥ 3 %, ANP could stabilize the O/W-type MCT-based Pickering emulsion gel with an oil-phase volume fraction of 70 %, and c was proportional to mechanical parameters such as gel strength, macroscopic viscosity index, and elastic index.…”
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Coffee Growing in the Florida Home Landscape
Published 2006-10-01“…Crane, Carlos F. Balerdi, and Gene Joyner, provides homeowners with a basic reference for growing coffee in the home landscape. …”
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Recent advances in small molecule LpxC inhibitors against gram-negative bacteria (2014–2024)
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Blossom Drop, Reduced Fruit Set, and Post-Pollination Disorders in Tomato
Published 2012-07-01“…This 6-page fact sheet was written by Monica Ozores-Hampton, Fnu Kiran, and Gene McAvoy, and published by the UF Department of Horticultural Sciences, July 2012. …”
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