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Susan A Slaugenhaupt

Showing results (1-10 of 78) with videos related to

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Clinical Autonomic Research : Official Journal of the Clinical Autonomic Research Society|July 10, 2002
Genetics of familial dysautonomia. Tissue-specific expression of a splicing mutation in the IKBKAP geneSusan A Slaugenhaupt
Current Molecular Medicine|July 20, 2002
The molecular basis of mucolipidosis type IVSusan A Slaugenhaupt
Current Opinion in Cardiology|April 7, 2007
Molecular genetics of mitral valve prolapseRobert A Levine, Susan A Slaugenhaupt
Advances in Experimental Medicine and Biology|March 5, 2003
Enzymatic mechanisms in corneal ulceration with specific reference to familial dysautonomia: potential for genetic approachesM Elizabeth Fini, Susan A Slaugenhaupt
Current Opinion in Genetics & Development|June 22, 2002
Familial dysautonomiaSusan A Slaugenhaupt, James F Gusella
Progress in Neurobiology|June 19, 2016
Familial dysautonomia: History, genotype, phenotype and translational researchLucy Norcliffe-Kaufmann, Susan A Slaugenhaupt, Horacio Kaufmann
The Journal of Biological Chemistry|September 25, 2010
Zinc dyshomeostasis is linked with the loss of mucolipidosis IV-associated TRPML1 ion channelJonathan L Eichelsdoerfer, Jeffrey A Evans, Susan A Slaugenhaupt, et al.
Proceedings of the National Academy of Sciences of the United States of America|April 9, 2004
Caenorhabditis elegans functional orthologue of human protein h-mucolipin-1 is required for lysosome biogenesisSebastian Treusch, Sarah Knuth, Susan A Slaugenhaupt, et al.
Experimental Cell Research|January 25, 2011
The cation channel mucolipin-1 is a bifunctional protein that facilitates membrane remodeling via its serine lipase domainJanice M LaPlante, John L Falardeau, Edward M Brown, et al.
Human Mutation|September 12, 2006
Weak definition of IKBKAP exon 20 leads to aberrant splicing in familial dysautonomiaEl Chérif Ibrahim, Matthew M Hims, Noam Shomron, et al.
Pageof 8

Showing results (1-10 of 78) with videos related to

Sort By:
Pageof 8
Clinical Autonomic Research : Official Journal of the Clinical Autonomic Research Society|July 10, 2002
Genetics of familial dysautonomia. Tissue-specific expression of a splicing mutation in the IKBKAP geneSusan A Slaugenhaupt
Current Molecular Medicine|July 20, 2002
The molecular basis of mucolipidosis type IVSusan A Slaugenhaupt
Current Opinion in Cardiology|April 7, 2007
Molecular genetics of mitral valve prolapseRobert A Levine, Susan A Slaugenhaupt
Advances in Experimental Medicine and Biology|March 5, 2003
Enzymatic mechanisms in corneal ulceration with specific reference to familial dysautonomia: potential for genetic approachesM Elizabeth Fini, Susan A Slaugenhaupt
Current Opinion in Genetics & Development|June 22, 2002
Familial dysautonomiaSusan A Slaugenhaupt, James F Gusella
Progress in Neurobiology|June 19, 2016
Familial dysautonomia: History, genotype, phenotype and translational researchLucy Norcliffe-Kaufmann, Susan A Slaugenhaupt, Horacio Kaufmann
The Journal of Biological Chemistry|September 25, 2010
Zinc dyshomeostasis is linked with the loss of mucolipidosis IV-associated TRPML1 ion channelJonathan L Eichelsdoerfer, Jeffrey A Evans, Susan A Slaugenhaupt, et al.
Proceedings of the National Academy of Sciences of the United States of America|April 9, 2004
Caenorhabditis elegans functional orthologue of human protein h-mucolipin-1 is required for lysosome biogenesisSebastian Treusch, Sarah Knuth, Susan A Slaugenhaupt, et al.
Experimental Cell Research|January 25, 2011
The cation channel mucolipin-1 is a bifunctional protein that facilitates membrane remodeling via its serine lipase domainJanice M LaPlante, John L Falardeau, Edward M Brown, et al.
Human Mutation|September 12, 2006
Weak definition of IKBKAP exon 20 leads to aberrant splicing in familial dysautonomiaEl Chérif Ibrahim, Matthew M Hims, Noam Shomron, et al.
Pageof 8