Increased expression of metabolism and lysosome-associated genes in a C. elegans dpy-7 cuticle furrow mutant. [PDF]
MicroPubl BiolFong A, Rodriguez M, Choe KP.
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Prognostic value of fatty acid metabolism-related signature and integrated analysis of the immune microenvironment in multiple myeloma. [PDF]
BMC CancerYu Y, Che F.
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From Genomic Diagnosis to Personalized RNA Medicine: Advances in Next-Generation Sequencing and N-of-1 Antisense Oligonucleotide Therapies for Rare Genetic Diseases. [PDF]
Genes (Basel)Rodriguez Carstens P +2 more
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Genetic Reasons for Phenotypic Diversity in Neuronal Ceroid Lipofuscinoses and High-Resolution Imaging as a Marker of Retinal Disease. [PDF]
Ophthalmol SciHuey J +11 more
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Antisense oligonucleotide therapies for monogenic disorders. [PDF]
Med GenetKrey-Grauert I, Ferro I, Wagner M.
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Uncovering Rare Structural Chromosomal Rearrangements: Insights from Molecular Cytogenetics. [PDF]
Int J Mol SciCzakó M +4 more
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Individualized therapy development for rare diseases: individualized at every step of the way. [PDF]
Ther Adv Rare DisC Lauffer M, Yu T, Aarstma-Rus A.
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Layilin: a multifunctional hyaluronan receptor in physiology and pathology. [PDF]
Front OncolJin C, Zong Y.
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Recognizing Lipofuscinosis as a Guide in Antiepileptic Treatment: Clinical Description of the First Mexican Case With Neuronal Ceroid Lipofuscinosis Type 7 (NCL7). [PDF]
CureusKimball TN +4 more
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The Diagnostic Value of Whole-Exome Sequencing in a Spectrum of Rare Neurological Disorders Associated with Cerebellar Atrophy. [PDF]
Mol NeurobiolAshaat EA +13 more
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