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Human Genetics
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August 15, 2000
Mutations in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD) in patients with tyrosinemia type III
U Rüetschi, R Cerone, C Pérez-Cerda, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1984
Different organic acid patterns in urine and in cerebrospinal fluid in a patient with biotinidase deficiency
M Di Rocco, A Superti-Furga, P Durand, et al.
Thrombosis Research
|
December 26, 2006
Homocysteine, reactive oxygen species and nitric oxide in type 2 diabetes mellitus
M G Signorello, G L Viviani, U Armani, et al.
European Journal of Pediatrics
|
November 1, 1992
Biochemical diagnosis and outcome of 2 years treatment in a patient with combined methylmalonic aciduria and homocystinuria
C Bellini, R Cerone, W Bonacci, et al.
Journal of Inherited Metabolic Disease
|
August 13, 1998
Fumarate hydratase deficiency
E Bonioli, A Di Stefano, V Peri, et al.
AJNR. American Journal of Neuroradiology
|
March 10, 2001
Early-onset combined methylmalonic aciduria and homocystinuria: neuroradiologic findings
A Rossi, R Cerone, R Biancheri, et al.
Neuropediatrics
|
April 21, 2001
Cobalamin (Cbl) C/D deficiency: clinical, neurophysiological and neuroradiologic findings in 14 cases
R Biancheri, R Cerone, M C Schiaffino, et al.
The Journal of Pediatrics
|
October 1, 1990
Widespread multi-tissue deletions of the mitochondrial genome in the Pearson marrow-pancreas syndrome
V Cormier, A Rötig, A R Quartino, et al.
Acta Paediatrica (Oslo, Norway : 1992)
|
March 1, 1997
Severe complex I deficiency in a case of neonatal-onset lactic acidosis and fatal liver failure
M Mazzella, R Cerone, W Bonacci, et al.
Genomics
|
January 1, 1991
Phenylketonuria missense mutations in the Mediterranean
Y Okano, T Wang, R C Eisensmith, et al.
Page
of 6
Search research articles
Search
Showing results (31-40 of 55) with videos related to
Sort By:
Page
of 6
Human Genetics
|
August 15, 2000
Mutations in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD) in patients with tyrosinemia type III
U Rüetschi, R Cerone, C Pérez-Cerda, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1984
Different organic acid patterns in urine and in cerebrospinal fluid in a patient with biotinidase deficiency
M Di Rocco, A Superti-Furga, P Durand, et al.
Thrombosis Research
|
December 26, 2006
Homocysteine, reactive oxygen species and nitric oxide in type 2 diabetes mellitus
M G Signorello, G L Viviani, U Armani, et al.
European Journal of Pediatrics
|
November 1, 1992
Biochemical diagnosis and outcome of 2 years treatment in a patient with combined methylmalonic aciduria and homocystinuria
C Bellini, R Cerone, W Bonacci, et al.
Journal of Inherited Metabolic Disease
|
August 13, 1998
Fumarate hydratase deficiency
E Bonioli, A Di Stefano, V Peri, et al.
AJNR. American Journal of Neuroradiology
|
March 10, 2001
Early-onset combined methylmalonic aciduria and homocystinuria: neuroradiologic findings
A Rossi, R Cerone, R Biancheri, et al.
Neuropediatrics
|
April 21, 2001
Cobalamin (Cbl) C/D deficiency: clinical, neurophysiological and neuroradiologic findings in 14 cases
R Biancheri, R Cerone, M C Schiaffino, et al.
The Journal of Pediatrics
|
October 1, 1990
Widespread multi-tissue deletions of the mitochondrial genome in the Pearson marrow-pancreas syndrome
V Cormier, A Rötig, A R Quartino, et al.
Acta Paediatrica (Oslo, Norway : 1992)
|
March 1, 1997
Severe complex I deficiency in a case of neonatal-onset lactic acidosis and fatal liver failure
M Mazzella, R Cerone, W Bonacci, et al.
Genomics
|
January 1, 1991
Phenylketonuria missense mutations in the Mediterranean
Y Okano, T Wang, R C Eisensmith, et al.
Page
of 6