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Clinical Chemistry
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December 10, 1999
Biochemical and molecular genetic characteristics of the severe form of tyrosine hydroxylase deficiency
C Bräutigam, G C Steenbergen-Spanjers, G F Hoffmann, et al.
The Journal of Biological Chemistry
|
May 9, 1997
Molecular cloning, expression, and functional significance of a cytochrome P450 highly expressed in rat heart myocytes
S Wu, W Chen, E Murphy, et al.
Annals of Human Genetics
|
April 3, 2001
A branch site mutation leading to aberrant splicing of the human tyrosine hydroxylase gene in a child with a severe extrapyramidal movement disorder
R J Janssen, R A Wevers, M Häussler, et al.
Neurology
|
January 3, 2001
L-dopa-responsive infantile hypokinetic rigid parkinsonism due to tyrosine hydroxylase deficiency
J F de Rijk-Van Andel, F J Gabreëls, B Geurtz, et al.
Molecular Pharmacology
|
June 1, 1997
CYP2J subfamily cytochrome P450s in the gastrointestinal tract: expression, localization, and potential functional significance
D C Zeldin, J Foley, S M Goldsworthy, et al.
Human Genetics
|
August 1, 1997
Exon skipping in the sterol 27-hydroxylase gene leads to cerebrotendinous xanthomatosis
A Verrips, G C Steenbergen-Spanjers, J A Luyten, et al.
Brain : a Journal of Neurology
|
April 25, 2000
Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis
A Verrips, L H Hoefsloot, G C Steenbergen, et al.
Human Genetics
|
September 1, 1995
Metachromatic leukodystrophy: a 12-bp deletion in exon 2 of the arylsulfatase A gene in a late infantile variant
J A Luyten, P W Wenink, G C Steenbergen-Spanjers, et al.
Human Genetics
|
August 14, 1998
A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-DOPA-responsive dystonia in the Dutch population
L P van den Heuvel, B Luiten, J A Smeitink, et al.
Annals of Neurology
|
July 17, 1998
Genetic characteristics of myoadenylate deaminase deficiency
H T Verzijl, B G van Engelen, J A Luyten, et al.
Page
of 9
Search research articles
Search
Showing results (71-80 of 84) with videos related to
Sort By:
Page
of 9
Clinical Chemistry
|
December 10, 1999
Biochemical and molecular genetic characteristics of the severe form of tyrosine hydroxylase deficiency
C Bräutigam, G C Steenbergen-Spanjers, G F Hoffmann, et al.
The Journal of Biological Chemistry
|
May 9, 1997
Molecular cloning, expression, and functional significance of a cytochrome P450 highly expressed in rat heart myocytes
S Wu, W Chen, E Murphy, et al.
Annals of Human Genetics
|
April 3, 2001
A branch site mutation leading to aberrant splicing of the human tyrosine hydroxylase gene in a child with a severe extrapyramidal movement disorder
R J Janssen, R A Wevers, M Häussler, et al.
Neurology
|
January 3, 2001
L-dopa-responsive infantile hypokinetic rigid parkinsonism due to tyrosine hydroxylase deficiency
J F de Rijk-Van Andel, F J Gabreëls, B Geurtz, et al.
Molecular Pharmacology
|
June 1, 1997
CYP2J subfamily cytochrome P450s in the gastrointestinal tract: expression, localization, and potential functional significance
D C Zeldin, J Foley, S M Goldsworthy, et al.
Human Genetics
|
August 1, 1997
Exon skipping in the sterol 27-hydroxylase gene leads to cerebrotendinous xanthomatosis
A Verrips, G C Steenbergen-Spanjers, J A Luyten, et al.
Brain : a Journal of Neurology
|
April 25, 2000
Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis
A Verrips, L H Hoefsloot, G C Steenbergen, et al.
Human Genetics
|
September 1, 1995
Metachromatic leukodystrophy: a 12-bp deletion in exon 2 of the arylsulfatase A gene in a late infantile variant
J A Luyten, P W Wenink, G C Steenbergen-Spanjers, et al.
Human Genetics
|
August 14, 1998
A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-DOPA-responsive dystonia in the Dutch population
L P van den Heuvel, B Luiten, J A Smeitink, et al.
Annals of Neurology
|
July 17, 1998
Genetic characteristics of myoadenylate deaminase deficiency
H T Verzijl, B G van Engelen, J A Luyten, et al.
Page
of 9