Diagnostic Yield and Clinical Utility of Genetic Testing in Turkish Adults with Suspected Inherited Kidney Disease: Insights from a Population with High Parental Consanguinity. [PDF]
J Clin Pract ResKumru G +14 more
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Hypophosphatemic rickets: diagnosis and treatment. [PDF]
Arch Endocrinol MetabBruneau H, Bergwitz C.
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Impact of Early Versus Late Diagnosis on Disease Progression in Cystinosis. [PDF]
Kidney Int RepBenfield MR.
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Carrier rates for recessive monogenic diseases in the Chinese Han population: a systematic review. [PDF]
Hum GenomicsXia Y, Ma Y.
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Ferroptosis-Resistant Adipocytes Drive Keloid Pathogenesis via GPX4-Mediated Adipocyte-Mesenchymal Transition and Iron-Cystine Metabolic Communication. [PDF]
Int J Biol SciShi X +16 more
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Differential roles for CLA-1L and UNC-10 in endosomal maturation and peptide release at <i>C. elegans</i> synapses impacting lifespan. [PDF]
Front Mol BiosciKrout M +3 more
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Reconstitution of Rab11-FIP4 Expression Rescues Cellular Homeostasis in Cystinosis. [PDF]
Mol Cell BiolRahman F +10 more
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MC1R depalmitoylation inhibition reveals a physiological role for pheomelanin. [PDF]
PNAS NexusGalván I +2 more
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Genomic dissection of methane emission traits in cattle: A meta-GWAS and heritability analysis across populations. [PDF]
PLoS OneGolpasand S +2 more
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