S. Romano
发表
E. Bertini,
R. Hennekam,
H. Kayserili,
2007,
American journal of human genetics.
A. Munnich,
N. Boddaert,
R. Salomon,
2009,
Human mutation.
A. Munnich,
D. Seidenwurm,
N. Boddaert,
2006,
Neuropediatrics.
D. Rabier,
P. de Lonlay,
G. Touati,
2010,
The Journal of pediatrics.
A. Munnich,
M. Durán,
N. Boddaert,
2010,
Journal of Inherited Metabolic Disease.
A. Munnich,
A. Rötig,
D. Rabier,
2009,
Journal of Inherited Metabolic Disease.
A. Munnich,
M. Polak,
A. Rötig,
2008,
Molecular genetics and metabolism.
A. Munnich,
D. Seidenwurm,
N. Boddaert,
2008,
Molecular genetics and metabolism.
A. Munnich,
N. Boddaert,
F. Brunelle,
2008,
Molecular genetics and metabolism.
Stratton,
J. Gécz,
P. Futreal,
2007
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Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency
A. Munnich,
J. Steffann,
B. Chadefaux-Vekemans,
2009,
Human Mutation.
A. Munnich,
N. Boddaert,
A. Rötig,
2009,
Molecular genetics and metabolism.
M. Polak,
D. Rabier,
J. Robert,
2008,
European Journal of Pediatrics.
P. de Lonlay,
L. Galmiche,
F. Jaubert,
2008,
Molecular genetics and metabolism.
Colin A. Johnson,
A. Munnich,
N. Boddaert,
2007,
American journal of human genetics.
A. Munnich,
M. Zilbovicius,
D. Seidenwurm,
2010,
Journal of neuroradiology. Journal de neuroradiologie.
S. Lyonnet,
P. de Lonlay,
D. Bonnet,
2009,
Journal of Medical Genetics.
T. Sanger,
E. Bertini,
M. Koenig,
2008,
Clinical genetics.
Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency
A. Munnich,
J. Steffann,
B. Chadefaux-Vekemans,
2009,
Human mutation.