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Nederlands Tijdschrift Voor Geneeskunde
|
November 9, 2007
[From gene to disease; Menkes disease: copper deficiency due to an ATP7A-gene defect]
M Aldenhoven, L W Klomp, P M van Hasselt, et al.
Advances in Experimental Medicine and Biology
|
March 18, 1999
Intracellular pathways of copper trafficking in yeast and humans
V C Culotta, S J Lin, P Schmidt, et al.
The Journal of Biological Chemistry
|
September 20, 1997
The copper chaperone for superoxide dismutase
V C Culotta, L W Klomp, J Strain, et al.
The Journal of Biological Chemistry
|
April 4, 1997
Identification and functional expression of HAH1, a novel human gene involved in copper homeostasis
L W Klomp, S J Lin, D S Yuan, et al.
Analytical Biochemistry
|
April 10, 1995
Preparation of anti-mucin polypeptide antisera to study mucin biosynthesis
K M Tytgat, L W Klomp, F J Bovelander, et al.
Hepatology (Baltimore, Md.)
|
November 28, 2000
A missense mutation in FIC1 is associated with greenland familial cholestasis
L W Klomp, L N Bull, A S Knisely, et al.
Journal of Hepatology
|
October 30, 2001
FIC1, the protein affected in two forms of hereditary cholestasis, is localized in the cholangiocyte and the canalicular membrane of the hepatocyte
E F Eppens, S W van Mil, J M de Vree, et al.
Nature Genetics
|
March 21, 1998
A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis
L N Bull, M J van Eijk, L Pawlikowska, et al.
American Journal of Human Genetics
|
October 31, 2000
Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency--a neurometabolic disorder associated with reduced L-serine biosynthesis
L W Klomp, T J de Koning, H E Malingré, et al.
Human Genetics
|
May 14, 1999
Fine-resolution mapping by haplotype evaluation: the examples of PFIC1 and BRIC
L N Bull, J A Juijn, M Liao, et al.
Page
of 2
Search research articles
Search
Showing results (11-20 of 20) with videos related to
Sort By:
Page
of 2
You have reached the last page of results.
This site can display upto 20 results.
Nederlands Tijdschrift Voor Geneeskunde
|
November 9, 2007
[From gene to disease; Menkes disease: copper deficiency due to an ATP7A-gene defect]
M Aldenhoven, L W Klomp, P M van Hasselt, et al.
Advances in Experimental Medicine and Biology
|
March 18, 1999
Intracellular pathways of copper trafficking in yeast and humans
V C Culotta, S J Lin, P Schmidt, et al.
The Journal of Biological Chemistry
|
September 20, 1997
The copper chaperone for superoxide dismutase
V C Culotta, L W Klomp, J Strain, et al.
The Journal of Biological Chemistry
|
April 4, 1997
Identification and functional expression of HAH1, a novel human gene involved in copper homeostasis
L W Klomp, S J Lin, D S Yuan, et al.
Analytical Biochemistry
|
April 10, 1995
Preparation of anti-mucin polypeptide antisera to study mucin biosynthesis
K M Tytgat, L W Klomp, F J Bovelander, et al.
Hepatology (Baltimore, Md.)
|
November 28, 2000
A missense mutation in FIC1 is associated with greenland familial cholestasis
L W Klomp, L N Bull, A S Knisely, et al.
Journal of Hepatology
|
October 30, 2001
FIC1, the protein affected in two forms of hereditary cholestasis, is localized in the cholangiocyte and the canalicular membrane of the hepatocyte
E F Eppens, S W van Mil, J M de Vree, et al.
Nature Genetics
|
March 21, 1998
A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis
L N Bull, M J van Eijk, L Pawlikowska, et al.
American Journal of Human Genetics
|
October 31, 2000
Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency--a neurometabolic disorder associated with reduced L-serine biosynthesis
L W Klomp, T J de Koning, H E Malingré, et al.
Human Genetics
|
May 14, 1999
Fine-resolution mapping by haplotype evaluation: the examples of PFIC1 and BRIC
L N Bull, J A Juijn, M Liao, et al.
Page
of 2