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Barry Wolf

Showing results (31-40 of 46) with videos related to

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Hearing Research|October 10, 2002
Localization of biotinidase in the brain: implications for its role in hearing loss in biotinidase deficiencyAndrew J Heller, Christine Stanley, Wayne T Shaia, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 22, 2014
Outcomes of individuals with profound and partial biotinidase deficiency ascertained by newborn screening in Michigan over 25 yearsAllison M Jay, Robert L Conway, Gerald L Feldman, et al.
Journal of Child Neurology|July 23, 2008
Profound biotinidase deficiency in a child with predominantly spinal cord diseaseAziza K Chedrawi, Ayman Ali, Zuhair N Al Hassnan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 17, 2024
Evaluating reproductive carrier screening using biotinidase deficiency as a model: Variants identified, variant rates, and managementPeter Benn, Yang Wang, Josie Gray, et al.
Molecular Genetics and Metabolism|November 6, 2010
Development and characterization of a mouse with profound biotinidase deficiency: a biotin-responsive neurocutaneous disorderKirit Pindolia, Megan Jordan, Caiying Guo, et al.
Molecular Genetics and Metabolism|April 7, 2023
Biotinidase deficiency: What have we learned in forty years?Aurel T Tankeu, Geraldine Van Winckel, Jolanda Elmers, et al.
Frontiers in Neurology|November 16, 2020
Severe Distal Motor Involvement in a Non-compliant Adult With Biotinidase Deficiency: The Necessity of Life-Long Biotin TherapyGéraldine Van Winckel, Diana Ballhausen, Barry Wolf, et al.
Molecular Genetics and Metabolism Reports|June 28, 2017
Corrigendum to "First contiguous gene deletion causing biotinidase deficiency: The enzyme deficiency in three Sri Lankan children" [Mol. Genet. Metab. Rep. 2 (2016) 81-84]Danika Nadeen Senanayake, Eresha A Jasinge, Kirit Pindolia, et al.
Molecular Genetics and Metabolism Reports|June 27, 2017
First contiguous gene deletion causing biotinidase deficiency: The enzyme deficiency in three Sri Lankan childrenDanika Nadeen Senanayake, Eresha A Jasinge, Kirit Pindolia, et al.
The Journal of Clinical Investigation|June 19, 2002
Biotin dependency due to a defect in biotin transportRebecca Mardach, Janos Zempleni, Barry Wolf, et al.
Pageof 5

Showing results (31-40 of 46) with videos related to

Sort By:
Pageof 5
Hearing Research|October 10, 2002
Localization of biotinidase in the brain: implications for its role in hearing loss in biotinidase deficiencyAndrew J Heller, Christine Stanley, Wayne T Shaia, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 22, 2014
Outcomes of individuals with profound and partial biotinidase deficiency ascertained by newborn screening in Michigan over 25 yearsAllison M Jay, Robert L Conway, Gerald L Feldman, et al.
Journal of Child Neurology|July 23, 2008
Profound biotinidase deficiency in a child with predominantly spinal cord diseaseAziza K Chedrawi, Ayman Ali, Zuhair N Al Hassnan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 17, 2024
Evaluating reproductive carrier screening using biotinidase deficiency as a model: Variants identified, variant rates, and managementPeter Benn, Yang Wang, Josie Gray, et al.
Molecular Genetics and Metabolism|November 6, 2010
Development and characterization of a mouse with profound biotinidase deficiency: a biotin-responsive neurocutaneous disorderKirit Pindolia, Megan Jordan, Caiying Guo, et al.
Molecular Genetics and Metabolism|April 7, 2023
Biotinidase deficiency: What have we learned in forty years?Aurel T Tankeu, Geraldine Van Winckel, Jolanda Elmers, et al.
Frontiers in Neurology|November 16, 2020
Severe Distal Motor Involvement in a Non-compliant Adult With Biotinidase Deficiency: The Necessity of Life-Long Biotin TherapyGéraldine Van Winckel, Diana Ballhausen, Barry Wolf, et al.
Molecular Genetics and Metabolism Reports|June 28, 2017
Corrigendum to "First contiguous gene deletion causing biotinidase deficiency: The enzyme deficiency in three Sri Lankan children" [Mol. Genet. Metab. Rep. 2 (2016) 81-84]Danika Nadeen Senanayake, Eresha A Jasinge, Kirit Pindolia, et al.
Molecular Genetics and Metabolism Reports|June 27, 2017
First contiguous gene deletion causing biotinidase deficiency: The enzyme deficiency in three Sri Lankan childrenDanika Nadeen Senanayake, Eresha A Jasinge, Kirit Pindolia, et al.
The Journal of Clinical Investigation|June 19, 2002
Biotin dependency due to a defect in biotin transportRebecca Mardach, Janos Zempleni, Barry Wolf, et al.
Pageof 5