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Diane W Cox

Showing results (11-20 of 22) with videos related to

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Genomics|February 14, 2004
Functional assessment of the carboxy-terminus of the Wilson disease copper-transporting ATPase, ATP7BGloria Hsi, Lara M Cullen, D Moira Glerum, et al.
Genomics|April 12, 2005
Defining a holoprosencephaly locus on human chromosome 14q13 and characterization of potential candidate genesDeepak Kamnasaran, Chih-Ping Chen, Koenraad Devriendt, et al.
Human Mutation|March 25, 2010
Functional analysis of mutations in the ATP loop of the Wilson disease copper transporter, ATP7BLeiah M Luoma, Taha M M Deeb, Georgina Macintyre, et al.
Mammalian Genome : Official Journal of the International Mammalian Genome Society|November 7, 2002
Tissue localization of the copper chaperone ATOX1 and its potential role in diseaseSteven D P Moore, Karmon E Helmle, Lisa M Prat, et al.
The Journal of Laboratory and Clinical Medicine|December 23, 2004
Value of an enzymatic assay for the determination of serum ceruloplasminGeorgina Macintyre, Klaus S Gutfreund, W R Wayne Martin, et al.
Schizophrenia Research|May 15, 2010
Association of NPAS3 exonic variation with schizophreniaGeorgina Macintyre, Tyler Alford, Lan Xiong, et al.
American Journal of Medical Genetics. Part A|September 10, 2005
FISH-mapping of telomeric 14q32 deletions: search for the cause of seizuresKamilla Schlade-Bartusiak, Teresa Costa, Anne M Summers, et al.
Biochimie|June 23, 2009
A minigene approach for analysis of ATP7B splice variants in patients with Wilson diseaseAnna M E Wilson, Kamilla Schlade-Bartusiak, Jean-Luc Tison, et al.
Human Mutation|January 19, 2008
Sequence variation in the ATP-binding domain of the Wilson disease transporter, ATP7B, affects copper transport in a yeast model systemGloria Hsi, Lara M Cullen, Georgina Macintyre, et al.
European Journal of Human Genetics : EJHG|April 18, 2003
Rearrangement in the PITX2 and MIPOL1 genes in a patient with a t(4;14) chromosomeDeepak Kamnasaran, Patricia C O'Brien, Elaine H Zackai, et al.
Pageof 3

Showing results (11-20 of 22) with videos related to

Sort By:
Pageof 3
Genomics|February 14, 2004
Functional assessment of the carboxy-terminus of the Wilson disease copper-transporting ATPase, ATP7BGloria Hsi, Lara M Cullen, D Moira Glerum, et al.
Genomics|April 12, 2005
Defining a holoprosencephaly locus on human chromosome 14q13 and characterization of potential candidate genesDeepak Kamnasaran, Chih-Ping Chen, Koenraad Devriendt, et al.
Human Mutation|March 25, 2010
Functional analysis of mutations in the ATP loop of the Wilson disease copper transporter, ATP7BLeiah M Luoma, Taha M M Deeb, Georgina Macintyre, et al.
Mammalian Genome : Official Journal of the International Mammalian Genome Society|November 7, 2002
Tissue localization of the copper chaperone ATOX1 and its potential role in diseaseSteven D P Moore, Karmon E Helmle, Lisa M Prat, et al.
The Journal of Laboratory and Clinical Medicine|December 23, 2004
Value of an enzymatic assay for the determination of serum ceruloplasminGeorgina Macintyre, Klaus S Gutfreund, W R Wayne Martin, et al.
Schizophrenia Research|May 15, 2010
Association of NPAS3 exonic variation with schizophreniaGeorgina Macintyre, Tyler Alford, Lan Xiong, et al.
American Journal of Medical Genetics. Part A|September 10, 2005
FISH-mapping of telomeric 14q32 deletions: search for the cause of seizuresKamilla Schlade-Bartusiak, Teresa Costa, Anne M Summers, et al.
Biochimie|June 23, 2009
A minigene approach for analysis of ATP7B splice variants in patients with Wilson diseaseAnna M E Wilson, Kamilla Schlade-Bartusiak, Jean-Luc Tison, et al.
Human Mutation|January 19, 2008
Sequence variation in the ATP-binding domain of the Wilson disease transporter, ATP7B, affects copper transport in a yeast model systemGloria Hsi, Lara M Cullen, Georgina Macintyre, et al.
European Journal of Human Genetics : EJHG|April 18, 2003
Rearrangement in the PITX2 and MIPOL1 genes in a patient with a t(4;14) chromosomeDeepak Kamnasaran, Patricia C O'Brien, Elaine H Zackai, et al.
Pageof 3