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Further insights in the FKBP14-related khyphoscoliotic Ehlers-Danlos syndrome : report of 3 unrelated individuals and 2 new pathogenic variants
(2022) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 30(Supplement 1). p.167-167 -
Genotype-phenotype studies in a large cohort of Brazilian patients with Hunter syndrome (vol 187, pg 349, 2021)
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- Journal Article
- A1
- open access
Antibiotic cycling affects resistance evolution independently of collateral sensitivity
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- Journal Article
- A1
- open access
A dual-antigen self-amplifying RNA SARS-CoV-2 vaccine induces potent humoral and cellular immune responses and protects against SARS-CoV-2 variants through T cell-mediated immunity
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- Journal Article
- A1
- open access
Population genetics and signatures of selection in Early Neolithic European farmers
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- Journal Article
- A1
- open access
Technical considerations in PCR-based assay design for diagnostic DNA methylation cancer biomarkers
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Molecular therapies and vaccines face the challenges of emerging infectious diseases
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Identifying and characterizing EZH2 as a druggable dependency factor for desmoid tumors in a genetic Xenopus tropicalis model for Gardner's Syndrome
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Plasma inorganic pyrophosphate levels correlate to specific phenotypes and variant archetypes of ABCC6 in pseudoxanthoma elasticum patients
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- Journal Article
- A1
- open access
Hearing loss in stickler syndrome : an update