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Human Mutation
|
January 1, 1996
A novel missense (E163G) mutation in the catalytic subunit of lipoprotein lipase causes familial chylomicronemia
H Wiebusch, H Funke, R Santer, et al.
European Journal of Pediatrics
|
November 11, 1998
Fanconi-Bickel syndrome--the original patient and his natural history, historical steps leading to the primary defect, and a review of the literature
R Santer, R Schneppenheim, D Suter, et al.
Journal of Inherited Metabolic Disease
|
May 7, 2005
Hyperchylomicronaemia due to lipoprotein lipase deficiency as a cause of false-positive newborn screening for biotinidase deficiency
R Santer, G Gokçay, M Demirkol, et al.
The Journal of Pediatrics
|
June 1, 1995
Discordance for hyperinsulinemic hypoglycemia in monozygotic twins
R Santer, H Hoffmann, M Suttorp, et al.
Seminars in Cancer Biology
|
August 25, 2015
Therapy escape mechanisms in the malignant prostate
Frédéric R Santer, Holger H H Erb, Rhiannon V McNeill
Journal of Inherited Metabolic Disease
|
August 1, 1997
Fanconi-Bickel syndrome presenting in neonatal screening for galactosaemia
D Müller, R Santer, M Krawinkel, et al.
Archives of Disease in Childhood
|
June 18, 1999
Effect of DDAVP on nocturnal enuresis in a patient with nephrogenic diabetes insipidus
S Jonat, R Santer, R Schneppenheim, et al.
Neuropediatrics
|
May 28, 2008
Severe hypomyelination as the leading neuroradiological sign in a patient with fucosidosis
V Prietsch, S Arnold, I Kraegeloh-Mann, et al.
Journal of Cellular Biochemistry
|
December 14, 2017
Interleukin-4 induces a CD44<sub>high</sub> /CD49b<sub>high</sub> PC3 subpopulation with tumor-initiating characteristics
Holger H H Erb, Fabian Guggenberger, Frédéric R Santer, et al.
Nature Genetics
|
November 14, 1997
Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome
R Santer, R Schneppenheim, A Dombrowski, et al.
Page
of 11
Search research articles
Search
Showing results (31-40 of 110) with videos related to
Sort By:
Page
of 11
Human Mutation
|
January 1, 1996
A novel missense (E163G) mutation in the catalytic subunit of lipoprotein lipase causes familial chylomicronemia
H Wiebusch, H Funke, R Santer, et al.
European Journal of Pediatrics
|
November 11, 1998
Fanconi-Bickel syndrome--the original patient and his natural history, historical steps leading to the primary defect, and a review of the literature
R Santer, R Schneppenheim, D Suter, et al.
Journal of Inherited Metabolic Disease
|
May 7, 2005
Hyperchylomicronaemia due to lipoprotein lipase deficiency as a cause of false-positive newborn screening for biotinidase deficiency
R Santer, G Gokçay, M Demirkol, et al.
The Journal of Pediatrics
|
June 1, 1995
Discordance for hyperinsulinemic hypoglycemia in monozygotic twins
R Santer, H Hoffmann, M Suttorp, et al.
Seminars in Cancer Biology
|
August 25, 2015
Therapy escape mechanisms in the malignant prostate
Frédéric R Santer, Holger H H Erb, Rhiannon V McNeill
Journal of Inherited Metabolic Disease
|
August 1, 1997
Fanconi-Bickel syndrome presenting in neonatal screening for galactosaemia
D Müller, R Santer, M Krawinkel, et al.
Archives of Disease in Childhood
|
June 18, 1999
Effect of DDAVP on nocturnal enuresis in a patient with nephrogenic diabetes insipidus
S Jonat, R Santer, R Schneppenheim, et al.
Neuropediatrics
|
May 28, 2008
Severe hypomyelination as the leading neuroradiological sign in a patient with fucosidosis
V Prietsch, S Arnold, I Kraegeloh-Mann, et al.
Journal of Cellular Biochemistry
|
December 14, 2017
Interleukin-4 induces a CD44<sub>high</sub> /CD49b<sub>high</sub> PC3 subpopulation with tumor-initiating characteristics
Holger H H Erb, Fabian Guggenberger, Frédéric R Santer, et al.
Nature Genetics
|
November 14, 1997
Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome
R Santer, R Schneppenheim, A Dombrowski, et al.
Page
of 11