A New Edition of European Journal of Human Genetics Is Now Available

August 4, 2021

European Journal of Human Genetics (vol. 28, no. 12, 2020) is available online by subscription only.

Articles include:

  • “Evaluation of CNV Detection Tools for NGS Panel Data in Genetic Diagnostics” by José Marcos Moreno-Cabrera, et al.
  • “Web-Based Return of BRCA2 Research Results: One-Year Genetic Counselling Experience in Iceland” by Vigdis Stefansdottir, et al.
  • “Switch from Enzyme Replacement Therapy to Oral Chaperone Migalastat for Treating Fabry Disease: Real-Life Data” by Eleonora Riccio, et al.
  • “National Newborn Screening for Cystic Fibrosis in the Republic of Ireland: Genetic Data from the First 6.5 Years” by Erina Sasaki, et al.
  • “Overrepresentation of Genetic Variation in the AnkyrinG Interactome is related to a range of Neurodevelopmental Disorders” by Ilse M. van der Werf, et al.
  • “A Quantitative Trait Rare Variant Nonparametric Linkage Method with Application to Age-At-Onset of Alzheimer’s Disease” by Linhai Zhao, et al.
  • “Identification of Genetic Variants Controlling RNA Editing and their Effect on RNA Structure Stabilization” by Aziz Belkadi, et al.

 

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