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Stephen G Kaler

Showing results (21-30 of 65) with videos related to

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Molecular Therapy. Nucleic Acids|June 27, 2013
Fetal Brain-directed AAV Gene Therapy Results in Rapid, Robust, and Persistent Transduction of Mouse Choroid Plexus EpitheliaMarie Reine Haddad, Anthony Donsante, Patricia Zerfas, et al.
Annals of Neurology|February 6, 2009
Translational read-through of a nonsense mutation in ATP7A impacts treatment outcome in Menkes diseaseStephen G Kaler, Jingrong Tang, Anthony Donsante, et al.
The Journal of Pediatrics|August 31, 2006
Brachial artery aneurysms in Menkes diseaseSarah C Godwin, Thomas Shawker, Benjamin Chang, et al.
Molecular Genetics and Metabolism|August 30, 2008
Clinical outcomes in Menkes disease patients with a copper-responsive ATP7A mutation, G727RJingrong Tang, Anthony Donsante, Vishal Desai, et al.
American Journal of Medical Genetics. Part A|April 16, 2020
Neck masses due to internal jugular vein phlebectasia: Frequency in Menkes disease and literature review of 85 pediatric subjectsKristen E Stevens, Julienne E Price, Jamie Marko, et al.
Ophthalmology|August 3, 2002
Menkes' syndrome: ophthalmic findingsAlice T Gasch, Rafael C Caruso, Stephen G Kaler, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 17, 2006
Functional copper transport explains neurologic sparing in occipital horn syndromeJingrong Tang, Stephen Robertson, Kristen E Lem, et al.
Journal of Immunology (Baltimore, Md. : 1950)|November 12, 2017
Copper Regulates Maturation and Expression of an MITF:Tryptase Axis in Mast CellsJun Mei Hu Frisk, Lena Kjellén, Stephen G Kaler, et al.
Annals of Neurology|December 11, 2012
L-threo-dihydroxyphenylserine corrects neurochemical abnormalities in a Menkes disease mouse modelAnthony Donsante, Patricia Sullivan, David S Goldstein, et al.
Molecular Genetics and Metabolism Reports|July 28, 2020
Targeted next generation sequencing for newborn screening of Menkes diseaseRichard B Parad, Stephen G Kaler, Evan Mauceli, et al.
Pageof 7

Showing results (21-30 of 65) with videos related to

Sort By:
Pageof 7
Molecular Therapy. Nucleic Acids|June 27, 2013
Fetal Brain-directed AAV Gene Therapy Results in Rapid, Robust, and Persistent Transduction of Mouse Choroid Plexus EpitheliaMarie Reine Haddad, Anthony Donsante, Patricia Zerfas, et al.
Annals of Neurology|February 6, 2009
Translational read-through of a nonsense mutation in ATP7A impacts treatment outcome in Menkes diseaseStephen G Kaler, Jingrong Tang, Anthony Donsante, et al.
The Journal of Pediatrics|August 31, 2006
Brachial artery aneurysms in Menkes diseaseSarah C Godwin, Thomas Shawker, Benjamin Chang, et al.
Molecular Genetics and Metabolism|August 30, 2008
Clinical outcomes in Menkes disease patients with a copper-responsive ATP7A mutation, G727RJingrong Tang, Anthony Donsante, Vishal Desai, et al.
American Journal of Medical Genetics. Part A|April 16, 2020
Neck masses due to internal jugular vein phlebectasia: Frequency in Menkes disease and literature review of 85 pediatric subjectsKristen E Stevens, Julienne E Price, Jamie Marko, et al.
Ophthalmology|August 3, 2002
Menkes' syndrome: ophthalmic findingsAlice T Gasch, Rafael C Caruso, Stephen G Kaler, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 17, 2006
Functional copper transport explains neurologic sparing in occipital horn syndromeJingrong Tang, Stephen Robertson, Kristen E Lem, et al.
Journal of Immunology (Baltimore, Md. : 1950)|November 12, 2017
Copper Regulates Maturation and Expression of an MITF:Tryptase Axis in Mast CellsJun Mei Hu Frisk, Lena Kjellén, Stephen G Kaler, et al.
Annals of Neurology|December 11, 2012
L-threo-dihydroxyphenylserine corrects neurochemical abnormalities in a Menkes disease mouse modelAnthony Donsante, Patricia Sullivan, David S Goldstein, et al.
Molecular Genetics and Metabolism Reports|July 28, 2020
Targeted next generation sequencing for newborn screening of Menkes diseaseRichard B Parad, Stephen G Kaler, Evan Mauceli, et al.
Pageof 7