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Stephen G Kaler

Showing results (31-40 of 65) with videos related to

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JCEM Case Reports|February 26, 2025
Late-Onset Progressive Osseous Heteroplasia: 2 Unrelated Cases and Use of Positron Emission Tomography for DiagnosisMinh T Pham, John D Mahan, Summit H Shah, et al.
Journal of Inherited Metabolic Disease|July 24, 2010
Molecular correlates of epilepsy in early diagnosed and treated Menkes diseaseStephen G Kaler, Clarissa J Liew, Anthony Donsante, et al.
Molecular Genetics and Metabolism|February 13, 2026
Whole genome sequencing from dried blood spots for newborn screening of Menkes disease and 36 other actionable inherited neurometabolic disordersStephen G Kaler, Lalitha Venkataraman, Minh T Pham, et al.
Molecular Genetics and Metabolism|June 1, 2005
Downregulation of myelination, energy, and translational genes in Menkes disease brainPo-Ching Liu, Yi-Wen Chen, Jose A Centeno, et al.
Clinical Dysmorphology|December 3, 2011
Increased frequency of congenital heart defects in Menkes diseaseJulia D Hicks, Anthony Donsante, Tyler M Pierson, et al.
American Journal of Medical Genetics. Part A|August 5, 2015
Menkes disease with discordant phenotype in female monozygotic twinsAnna Lena Burgemeister, Birgit Zirn, Frank Oeffner, et al.
Human Molecular Genetics|January 3, 2012
Altered intracellular localization and valosin-containing protein (p97 VCP) interaction underlie ATP7A-related distal motor neuropathyLing Yi, Anthony Donsante, Marina L Kennerson, et al.
Journal of Medical Genetics|May 15, 2007
Differences in ATP7A gene expression underlie intrafamilial variability in Menkes disease/occipital horn syndromeAnthony Donsante, Jingrong Tang, Sarah C Godwin, et al.
Molecular Therapy. Methods & Clinical Development|August 29, 2022
Transduction characteristics of alternative adeno-associated virus serotypes in the cat brain by intracisternal deliveryJacqueline E Hunter, Caitlyn M Molony, Jessica H Bagel, et al.
American Journal of Medical Genetics. Part A|November 10, 2005
Severe bilateral panlobular emphysema and pulmonary arterial hypoplasia: unusual manifestations of Menkes diseaseDorothy K Grange, Stephen G Kaler, Gary M Albers, et al.
Pageof 7

Showing results (31-40 of 65) with videos related to

Sort By:
Pageof 7
JCEM Case Reports|February 26, 2025
Late-Onset Progressive Osseous Heteroplasia: 2 Unrelated Cases and Use of Positron Emission Tomography for DiagnosisMinh T Pham, John D Mahan, Summit H Shah, et al.
Journal of Inherited Metabolic Disease|July 24, 2010
Molecular correlates of epilepsy in early diagnosed and treated Menkes diseaseStephen G Kaler, Clarissa J Liew, Anthony Donsante, et al.
Molecular Genetics and Metabolism|February 13, 2026
Whole genome sequencing from dried blood spots for newborn screening of Menkes disease and 36 other actionable inherited neurometabolic disordersStephen G Kaler, Lalitha Venkataraman, Minh T Pham, et al.
Molecular Genetics and Metabolism|June 1, 2005
Downregulation of myelination, energy, and translational genes in Menkes disease brainPo-Ching Liu, Yi-Wen Chen, Jose A Centeno, et al.
Clinical Dysmorphology|December 3, 2011
Increased frequency of congenital heart defects in Menkes diseaseJulia D Hicks, Anthony Donsante, Tyler M Pierson, et al.
American Journal of Medical Genetics. Part A|August 5, 2015
Menkes disease with discordant phenotype in female monozygotic twinsAnna Lena Burgemeister, Birgit Zirn, Frank Oeffner, et al.
Human Molecular Genetics|January 3, 2012
Altered intracellular localization and valosin-containing protein (p97 VCP) interaction underlie ATP7A-related distal motor neuropathyLing Yi, Anthony Donsante, Marina L Kennerson, et al.
Journal of Medical Genetics|May 15, 2007
Differences in ATP7A gene expression underlie intrafamilial variability in Menkes disease/occipital horn syndromeAnthony Donsante, Jingrong Tang, Sarah C Godwin, et al.
Molecular Therapy. Methods & Clinical Development|August 29, 2022
Transduction characteristics of alternative adeno-associated virus serotypes in the cat brain by intracisternal deliveryJacqueline E Hunter, Caitlyn M Molony, Jessica H Bagel, et al.
American Journal of Medical Genetics. Part A|November 10, 2005
Severe bilateral panlobular emphysema and pulmonary arterial hypoplasia: unusual manifestations of Menkes diseaseDorothy K Grange, Stephen G Kaler, Gary M Albers, et al.
Pageof 7