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American Journal of Human Genetics
|
December 1, 1996
A 68-bp insertion found in a homocystinuric patient is a common variant and is skipped by alternative splicing of the cystathionine beta-synthase mRNA
M P Sperandeo, R de Franchis, G Andria, et al.
FEBS Letters
|
November 24, 1986
On the primary site of control in the spontaneous development of small-intestinal sucrase-isomaltase after birth
G Sebastio, W Hunziker, A Ballabio, et al.
Nucleic Acids Research
|
July 25, 1985
BamHI RFLP linked to the human urokinase gene
G Sebastio, A Riccio, P Verde, et al.
European Journal of Pediatrics
|
May 20, 1998
Clinical aspects of cystathionine beta-synthase deficiency: how wide is the spectrum? The Italian Collaborative Study Group on Homocystinuria
R De Franchis, M P Sperandeo, G Sebastio, et al.
Lancet (London, England)
|
December 23, 1995
Spina bifida, 677T-->C mutation, and role of folate
R de Franchis, G Sebastio, C Mandato, et al.
Pflugers Archiv : European Journal of Physiology
|
April 14, 2000
Cationic amino acid transport through system y+L in erythrocytes of patients with lysinuric protein intolerance
C A Boyd, R Deves, R Laynes, et al.
Nucleic Acids Research
|
April 25, 1985
The human urokinase-plasminogen activator gene and its promoter
A Riccio, G Grimaldi, P Verde, et al.
Human Mutation
|
July 17, 1999
Four novel mutations in the cystathionine beta-synthase gene: effect of a second linked mutation on the severity of the homocystinuric phenotype
R de Franchis, E Kraus, V Kozich, et al.
Minerva Pediatrica
|
March 24, 1977
[A case of leprechaunism with anomalous karyotype (46,XX/47,XX?r+)]
R V De Masi, V Buffa, F Tancredi, et al.
Biochemical and Biophysical Research Communications
|
July 31, 1987
Modulated expression of human homeobox genes in differentiating intestinal cells
G Sebastio, M D'Esposito, M Montanucci, et al.
Page
of 7
Search research articles
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Showing results (11-20 of 67) with videos related to
Sort By:
Page
of 7
American Journal of Human Genetics
|
December 1, 1996
A 68-bp insertion found in a homocystinuric patient is a common variant and is skipped by alternative splicing of the cystathionine beta-synthase mRNA
M P Sperandeo, R de Franchis, G Andria, et al.
FEBS Letters
|
November 24, 1986
On the primary site of control in the spontaneous development of small-intestinal sucrase-isomaltase after birth
G Sebastio, W Hunziker, A Ballabio, et al.
Nucleic Acids Research
|
July 25, 1985
BamHI RFLP linked to the human urokinase gene
G Sebastio, A Riccio, P Verde, et al.
European Journal of Pediatrics
|
May 20, 1998
Clinical aspects of cystathionine beta-synthase deficiency: how wide is the spectrum? The Italian Collaborative Study Group on Homocystinuria
R De Franchis, M P Sperandeo, G Sebastio, et al.
Lancet (London, England)
|
December 23, 1995
Spina bifida, 677T-->C mutation, and role of folate
R de Franchis, G Sebastio, C Mandato, et al.
Pflugers Archiv : European Journal of Physiology
|
April 14, 2000
Cationic amino acid transport through system y+L in erythrocytes of patients with lysinuric protein intolerance
C A Boyd, R Deves, R Laynes, et al.
Nucleic Acids Research
|
April 25, 1985
The human urokinase-plasminogen activator gene and its promoter
A Riccio, G Grimaldi, P Verde, et al.
Human Mutation
|
July 17, 1999
Four novel mutations in the cystathionine beta-synthase gene: effect of a second linked mutation on the severity of the homocystinuric phenotype
R de Franchis, E Kraus, V Kozich, et al.
Minerva Pediatrica
|
March 24, 1977
[A case of leprechaunism with anomalous karyotype (46,XX/47,XX?r+)]
R V De Masi, V Buffa, F Tancredi, et al.
Biochemical and Biophysical Research Communications
|
July 31, 1987
Modulated expression of human homeobox genes in differentiating intestinal cells
G Sebastio, M D'Esposito, M Montanucci, et al.
Page
of 7