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J Jaeken

Showing results (81-90 of 257) with videos related to

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Human Genetics|October 14, 1977
Partial monosomy of the long arm of chromosome 16 in a malformed newborn: karyotype 46,XX,del(16))q21)J P Fryns, S Melchoir, J Jaeken, et al.
Acta Paediatrica Belgica|January 1, 1979
A micromethod for sphingomyelinase assay using a chromogenic artificial substrate. Its use in the diagnosis of Niemann-Pick diseaseW R Den Tandt, J Jaeken, J G Leroy, et al.
Acta Paediatrica (Oslo, Norway : 1992)|August 1, 1994
Carbohydrate-deficient glycoprotein syndrome with previously unreported featuresF Eyskens, C Ceuterick, J J Martin, et al.
American Journal of Human Genetics|January 13, 2001
High residual activity of PMM2 in patients' fibroblasts: possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency)S Grünewald, E Schollen, E Van Schaftingen, et al.
Annales De Genetique|January 1, 1988
Complex chromosomal rearrangement involving chromosomes 11, 13 and 21A Kleczkowska, J P Fryns, J Jaeken, et al.
Pediatric Research|November 1, 1996
Inhibition of phosphomannose isomerase by fructose 1-phosphate: an explanation for defective N-glycosylation in hereditary fructose intoleranceJ Jaeken, M Pirard, M Adamowicz, et al.
Acta Paediatrica Belgica|July 1, 1978
Exantherma in sepsis neonatorumH Devlieger, S Melchior, J Jaeken, et al.
Acta Paediatrica Belgica|October 1, 1979
A micromethod for sphingomyelinase assay using a chromogenic artificial substrate: its use in the diagnosis of Niemann-Pick diseaseW R Den Tandt, J Jaeken, J G Leroy, et al.
European Journal of Pediatrics|June 1, 1992
Further evaluation of Vigabatrin therapy in 4-hydroxybutyric aciduriaC Jakobs, T Michael, E Jaeger, et al.
Brain : a Journal of Neurology|November 20, 1997
Genetic disorders and cerebellar structural abnormalities in childhoodV T Ramaekers, G Heimann, J Reul, et al.
Pageof 26

Showing results (81-90 of 257) with videos related to

Sort By:
Pageof 26
Human Genetics|October 14, 1977
Partial monosomy of the long arm of chromosome 16 in a malformed newborn: karyotype 46,XX,del(16))q21)J P Fryns, S Melchoir, J Jaeken, et al.
Acta Paediatrica Belgica|January 1, 1979
A micromethod for sphingomyelinase assay using a chromogenic artificial substrate. Its use in the diagnosis of Niemann-Pick diseaseW R Den Tandt, J Jaeken, J G Leroy, et al.
Acta Paediatrica (Oslo, Norway : 1992)|August 1, 1994
Carbohydrate-deficient glycoprotein syndrome with previously unreported featuresF Eyskens, C Ceuterick, J J Martin, et al.
American Journal of Human Genetics|January 13, 2001
High residual activity of PMM2 in patients' fibroblasts: possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency)S Grünewald, E Schollen, E Van Schaftingen, et al.
Annales De Genetique|January 1, 1988
Complex chromosomal rearrangement involving chromosomes 11, 13 and 21A Kleczkowska, J P Fryns, J Jaeken, et al.
Pediatric Research|November 1, 1996
Inhibition of phosphomannose isomerase by fructose 1-phosphate: an explanation for defective N-glycosylation in hereditary fructose intoleranceJ Jaeken, M Pirard, M Adamowicz, et al.
Acta Paediatrica Belgica|July 1, 1978
Exantherma in sepsis neonatorumH Devlieger, S Melchior, J Jaeken, et al.
Acta Paediatrica Belgica|October 1, 1979
A micromethod for sphingomyelinase assay using a chromogenic artificial substrate: its use in the diagnosis of Niemann-Pick diseaseW R Den Tandt, J Jaeken, J G Leroy, et al.
European Journal of Pediatrics|June 1, 1992
Further evaluation of Vigabatrin therapy in 4-hydroxybutyric aciduriaC Jakobs, T Michael, E Jaeger, et al.
Brain : a Journal of Neurology|November 20, 1997
Genetic disorders and cerebellar structural abnormalities in childhoodV T Ramaekers, G Heimann, J Reul, et al.
Pageof 26