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

July 9, 2021

European Journal of Human Genetics (vol. 28, no. 11, 2018) is available online by subscription only.

Articles include:

  • “Secondary Findings in Inherited Heart Conditions: A Genotype-First Feasibility Study to Assess Phenotype, Behavioural and Psychosocial Outcomes” by Elizabeth Ormondroyd, et al.
  • “Diphthamide-Deficiency Syndrome: A Novel Human Developmental Disorder and Ribosomopathy” by Harmen Hawer, et al.
  • “Biallelic MFSD2A Variants Associated with Congenital Microcephaly, Developmental Delay, and Recognizable Neuroimaging Features” by Marcello Scala, et al.
  • “Delivering Genome Sequencing for Rapid Genetic Diagnosis in Critically Ill Children: Parent and Professional Views, Experiences and Challenges” by Melissa Hill, et al.
  • “Mainstreaming Germline BRCA1/2 Testing in Non-Mucinous Epithelial Ovarian Cancer in the North West of England” by Nicola Flaum, et al.
  • “The Novel Duplication HRAS c.186_206dup p.(Glu62_Arg68dup): Clinical and Functional Aspects” by Karen W. Gripp, et al.
  • “Cultural Variation Impacts Paternal and Maternal Genetic Lineages of the Hmong-Mien and Sino-Tibetan Groups from Thailand” by Wibhu Kutanan, et al.
  • “Differences in Local Population History at the Finest Level: The Case of the Estonian Population” by Vasili Pankratov, et al.
  • “ACE2 Gene Variants may Underlie Interindividual Variability and Susceptibility to COVID-19 in the Italian Population” by Elisa Benetti, et al.
  • “Accurate Fetal Variant Calling in the Presence of Maternal Cell Contamination” by Elena Nabieva, et al.

 

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