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Molecular Genetics and Metabolism
|
May 12, 2009
Stop codon read-through of a methylmalonic aciduria mutation
Nicole E Buck, Leonie Wood, Ruimei Hu, et al.
Plos One
|
October 2, 2012
Development of transgenic mice containing an introduced stop codon on the human methylmalonyl-CoA mutase locus
Nicole E Buck, Harriet Dashnow, James J Pitt, et al.
Journal of Paediatrics and Child Health
|
August 24, 2006
Three-year audit of the hyperphenylalaninaemia/phenylketonuria spectrum in Victoria
Avihu Boneh, Dorothy E M Francis, Maureen Humphrey, et al.
Biochemical and Biophysical Research Communications
|
October 9, 2012
Treatment of a methylmalonyl-CoA mutase stopcodon mutation
Nicole E Buck, Leonie R Wood, Natasha J Hamilton, et al.
Human Gene Therapy
|
February 27, 2014
Correction of methylmalonic aciduria in vivo using a codon-optimized lentiviral vector
Edward S Y Wong, Chantelle McIntyre, Heidi L Peters, et al.
Biochemical and Biophysical Research Communications
|
September 18, 2012
Fetal progenitor cell transplantation treats methylmalonic aciduria in a mouse model
Nicole E Buck, Samuel D Pennell, Leonie R Wood, et al.
Plos One
|
July 14, 2012
Mouse models for methylmalonic aciduria
Heidi L Peters, James J Pitt, Leonie R Wood, et al.
Human Mutation
|
October 29, 2002
Molecular studies in mutase-deficient (MUT) methylmalonic aciduria: identification of five novel mutations
Heidi L Peters, Mikhael Nefedov, Lai Wah Lee, et al.
Annals of Neurology
|
June 2, 2005
POLG mutations and Alpers syndrome
Guido Davidzon, Michelangelo Mancuso, Silvio Ferraris, et al.
Developmental Medicine and Child Neurology
|
November 26, 2013
Typical and atypical phenotypes of PNPO deficiency with elevated CSF and plasma pyridoxamine on treatment
Tyson L Ware, John Earl, Gajja S Salomons, et al.
Page
of 2
Search research articles
Search
Showing results (1-10 of 14) with videos related to
Sort By:
Page
of 2
Molecular Genetics and Metabolism
|
May 12, 2009
Stop codon read-through of a methylmalonic aciduria mutation
Nicole E Buck, Leonie Wood, Ruimei Hu, et al.
Plos One
|
October 2, 2012
Development of transgenic mice containing an introduced stop codon on the human methylmalonyl-CoA mutase locus
Nicole E Buck, Harriet Dashnow, James J Pitt, et al.
Journal of Paediatrics and Child Health
|
August 24, 2006
Three-year audit of the hyperphenylalaninaemia/phenylketonuria spectrum in Victoria
Avihu Boneh, Dorothy E M Francis, Maureen Humphrey, et al.
Biochemical and Biophysical Research Communications
|
October 9, 2012
Treatment of a methylmalonyl-CoA mutase stopcodon mutation
Nicole E Buck, Leonie R Wood, Natasha J Hamilton, et al.
Human Gene Therapy
|
February 27, 2014
Correction of methylmalonic aciduria in vivo using a codon-optimized lentiviral vector
Edward S Y Wong, Chantelle McIntyre, Heidi L Peters, et al.
Biochemical and Biophysical Research Communications
|
September 18, 2012
Fetal progenitor cell transplantation treats methylmalonic aciduria in a mouse model
Nicole E Buck, Samuel D Pennell, Leonie R Wood, et al.
Plos One
|
July 14, 2012
Mouse models for methylmalonic aciduria
Heidi L Peters, James J Pitt, Leonie R Wood, et al.
Human Mutation
|
October 29, 2002
Molecular studies in mutase-deficient (MUT) methylmalonic aciduria: identification of five novel mutations
Heidi L Peters, Mikhael Nefedov, Lai Wah Lee, et al.
Annals of Neurology
|
June 2, 2005
POLG mutations and Alpers syndrome
Guido Davidzon, Michelangelo Mancuso, Silvio Ferraris, et al.
Developmental Medicine and Child Neurology
|
November 26, 2013
Typical and atypical phenotypes of PNPO deficiency with elevated CSF and plasma pyridoxamine on treatment
Tyson L Ware, John Earl, Gajja S Salomons, et al.
Page
of 2