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Hearing Research|August 19, 2005
Biotinidase reveals the morphogenetic sequence in cochlea and cochlear nucleus of miceCraig L Brumwell, Waheeda A Hossain, D Kent Morest, et al.
Neuropsychopharmacology : Official Publication of the American College of Neuropsychopharmacology|May 18, 2007
Markers in the 5'-region of GABRG1 associate to alcohol dependence and are in linkage disequilibrium with markers in the adjacent GABRA2 geneJonathan Covault, Joel Gelernter, Kevin Jensen, et al.
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.
Proceedings of the National Academy of Sciences of the United States of America|September 13, 2007
MicroRNA regulation of cyclooxygenase-2 during embryo implantationAnindita Chakrabarty, Susanne Tranguch, Takiko Daikoku, 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|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.
The Journal of Clinical Investigation|June 19, 2002
Biotin dependency due to a defect in biotin transportRebecca Mardach, Janos Zempleni, Barry Wolf, et al.
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