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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Avihu Boneh

Metabolic Service

Genetic Health Services Victoria

Murdoch Children's Research Institute

Royal Children's Hospital

Australia

[email]@ghsv.org.au

Name/email consistency: high

 
 
 
 
 
 
 

Affiliations

  • Metabolic Service, Genetic Health Services Victoria, Murdoch Children's Research Institute, Royal Children's Hospital, Australia. 2005 - 2008
  • Metabolic Service and Newborn Screening Laboratory, Genetic Health Services Victoria, Melbourne, Australia. 2006
  • Department of Human Genetics, Hadassah-Hebrew University Medical Centre, Jerusalem, Israel. 2005

References

  1. Clinical, ethical and legal considerations in the treatment of newborns with non-ketotic hyperglycinaemia. Boneh, A., Allan, S., Mendelson, D., Spriggs, M., Gillam, L.H., Korman, S.H. Mol. Genet. Metab. (2008) [Pubmed]
  2. Newborn screening for glutaric aciduria type I in Victoria: treatment and outcome. Boneh, A., Beauchamp, M., Humphrey, M., Watkins, J., Peters, H., Yaplito-Lee, J. Mol. Genet. Metab. (2008) [Pubmed]
  3. VLCAD deficiency: pitfalls in newborn screening and confirmation of diagnosis by mutation analysis. Boneh, A., Andresen, B.S., Gregersen, N., Ibrahim, M., Tzanakos, N., Peters, H., Yaplito-Lee, J., Pitt, J.J. Mol. Genet. Metab. (2006) [Pubmed]
  4. Regulation of mitochondrial oxidative phosphorylation by second messenger-mediated signal transduction mechanisms. Boneh, A. Cell. Mol. Life Sci. (2006) [Pubmed]
  5. Three-year audit of the hyperphenylalaninaemia/phenylketonuria spectrum in Victoria. Boneh, A., Francis, D.E., Humphrey, M., Upton, H.J., Peters, H.L. J. Paediatr. Child. Health (2006) [Pubmed]
  6. A single nucleotide substitution that abolishes the initiator methionine codon of the GLDC gene is prevalent among patients with glycine encephalopathy in Jerusalem. Boneh, A., Korman, S.H., Sato, K., Kanno, J., Matsubara, Y., Lerer, I., Ben-Neriah, Z., Kure, S. J. Hum. Genet. (2005) [Pubmed]
  7. Methylcrotonyl-CoA carboxylase (MCC) deficiency associated with severe muscle pain and physical disability in an adult. Boneh, A., Baumgartner, M., Hayman, M., Peters, H. J. Inherit. Metab. Dis. (2005) [Pubmed]
 
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