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Stephen G Kaler

Showing results (11-20 of 65) with videos related to

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The Lancet. Neurology|December 16, 2014
Wilson's disease and other neurological copper disordersOliver Bandmann, Karl Heinz Weiss, Stephen G Kaler
International Journal of Pediatric Otorhinolaryngology|May 8, 2007
Internal jugular phlebectasia in Menkes diseaseDavid J Price, Thyyar Ravindranath, Stephen G Kaler
BMC Genetics|February 22, 2003
Genomic organization of ATOX1, a human copper chaperonePo-Ching Liu, David M Koeller, Stephen G Kaler
Genetic Testing|January 23, 2003
Rapid and robust screening of the Menkes disease/occipital horn syndrome genePo-Ching Liu, Patricia E McAndrew, Stephen G Kaler
Molecular Genetics and Metabolism Reports|June 13, 2020
Estimated birth prevalence of Menkes disease and ATP7A-related disorders based on the Genome Aggregation Database (gnomAD)Stephen G Kaler, Carlos R Ferreira, Lung S Yam
Pediatric Radiology|July 25, 2012
Cervical spine anomalies in Menkes disease: a radiologic finding potentially confused with child abuseSuvimol C Hill, Andrew J Dwyer, Stephen G Kaler
Neurochemical Research|February 24, 2009
Relative efficiencies of plasma catechol levels and ratios for neonatal diagnosis of menkes diseaseDavid S Goldstein, Courtney S Holmes, Stephen G Kaler
Human Molecular Genetics|January 16, 2025
Choroid plexus-targeted viral gene therapy for alpha-mannosidosis, a prototypical neurometabolic lysosomal storage diseaseEun-Young Choi, John H Wolfe, Stephen G Kaler
Molecular Genetics & Genomic Medicine|May 13, 2024
Short report: Twins with 20p13 duplication. Case report and comprehensive literature reviewBenjamin J Kennedy, Sarah K Savage, Stephen G Kaler
American Journal of Medical Genetics. Part A|August 28, 2010
Somatic mosaicism in Menkes disease suggests choroid plexus-mediated copper transport to the developing brainAnthony Donsante, Paul Johnson, Laura A Jansen, et al.
Pageof 7

Showing results (11-20 of 65) with videos related to

Sort By:
Pageof 7
The Lancet. Neurology|December 16, 2014
Wilson's disease and other neurological copper disordersOliver Bandmann, Karl Heinz Weiss, Stephen G Kaler
International Journal of Pediatric Otorhinolaryngology|May 8, 2007
Internal jugular phlebectasia in Menkes diseaseDavid J Price, Thyyar Ravindranath, Stephen G Kaler
BMC Genetics|February 22, 2003
Genomic organization of ATOX1, a human copper chaperonePo-Ching Liu, David M Koeller, Stephen G Kaler
Genetic Testing|January 23, 2003
Rapid and robust screening of the Menkes disease/occipital horn syndrome genePo-Ching Liu, Patricia E McAndrew, Stephen G Kaler
Molecular Genetics and Metabolism Reports|June 13, 2020
Estimated birth prevalence of Menkes disease and ATP7A-related disorders based on the Genome Aggregation Database (gnomAD)Stephen G Kaler, Carlos R Ferreira, Lung S Yam
Pediatric Radiology|July 25, 2012
Cervical spine anomalies in Menkes disease: a radiologic finding potentially confused with child abuseSuvimol C Hill, Andrew J Dwyer, Stephen G Kaler
Neurochemical Research|February 24, 2009
Relative efficiencies of plasma catechol levels and ratios for neonatal diagnosis of menkes diseaseDavid S Goldstein, Courtney S Holmes, Stephen G Kaler
Human Molecular Genetics|January 16, 2025
Choroid plexus-targeted viral gene therapy for alpha-mannosidosis, a prototypical neurometabolic lysosomal storage diseaseEun-Young Choi, John H Wolfe, Stephen G Kaler
Molecular Genetics & Genomic Medicine|May 13, 2024
Short report: Twins with 20p13 duplication. Case report and comprehensive literature reviewBenjamin J Kennedy, Sarah K Savage, Stephen G Kaler
American Journal of Medical Genetics. Part A|August 28, 2010
Somatic mosaicism in Menkes disease suggests choroid plexus-mediated copper transport to the developing brainAnthony Donsante, Paul Johnson, Laura A Jansen, et al.
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