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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 12, 2010
Technical standards and guidelines for the diagnosis of biotinidase deficiency
Tina M Cowan, Miriam G Blitzer, Barry Wolf, et al.
Molecular Genetics and Metabolism
|
March 18, 2014
Characterization and functional analysis of cellular immunity in mice with biotinidase deficiency
Kirit Pindolia, Hong Li, Cisley Cardwell, et al.
Molecular Genetics and Metabolism Reports
|
December 28, 2020
Biotinidase deficiency is a rare, potentially treatable cause of peripheral neuropathy with or without optic neuropathy in adults
Elizabeth Kellom, Kimberly Stepien, Gregory Rice, et al.
G3 (Bethesda, Md.)
|
April 4, 2013
The Biotinidase Gene Variants Registry: A Paradigm Public Database
Melinda Procter, Barry Wolf, David K Crockett, et al.
Journal of Inherited Metabolic Disease
|
May 19, 2017
Developmental window of sensorineural deafness in biotinidase-deficient mice
Kathleen June Maheras, Kirit Pindolia, Barry Wolf, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 7, 2017
Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics
Erin T Strovel, Tina M Cowan, Anna I Scott, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 15, 2017
ERRATUM: Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics
Erin T Strovel, Tina M Cowan, Anna I Scott, et al.
Hearing Research
|
August 19, 2005
Biotinidase reveals the morphogenetic sequence in cochlea and cochlear nucleus of mice
Craig L Brumwell, Waheeda A Hossain, D Kent Morest, et al.
Neurobiology of Disease
|
May 15, 2012
Neurological deficits in mice with profound biotinidase deficiency are associated with demylination and axonal degeneration
Kirit Pindolia, Jieli Chen, Cisley Cardwell, et al.
Multiple Sclerosis (Houndmills, Basingstoke, England)
|
July 24, 2015
Biotinidase deficiency mimicking neuromyelitis optica: Initially exhibiting symptoms in adulthood
Laure Bottin, Sabine Prud'hon, Stéphanie Guey, et al.
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of 5
Search research articles
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Showing results (21-30 of 46) with videos related to
Sort By:
Page
of 5
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 12, 2010
Technical standards and guidelines for the diagnosis of biotinidase deficiency
Tina M Cowan, Miriam G Blitzer, Barry Wolf, et al.
Molecular Genetics and Metabolism
|
March 18, 2014
Characterization and functional analysis of cellular immunity in mice with biotinidase deficiency
Kirit Pindolia, Hong Li, Cisley Cardwell, et al.
Molecular Genetics and Metabolism Reports
|
December 28, 2020
Biotinidase deficiency is a rare, potentially treatable cause of peripheral neuropathy with or without optic neuropathy in adults
Elizabeth Kellom, Kimberly Stepien, Gregory Rice, et al.
G3 (Bethesda, Md.)
|
April 4, 2013
The Biotinidase Gene Variants Registry: A Paradigm Public Database
Melinda Procter, Barry Wolf, David K Crockett, et al.
Journal of Inherited Metabolic Disease
|
May 19, 2017
Developmental window of sensorineural deafness in biotinidase-deficient mice
Kathleen June Maheras, Kirit Pindolia, Barry Wolf, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 7, 2017
Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics
Erin T Strovel, Tina M Cowan, Anna I Scott, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 15, 2017
ERRATUM: Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics
Erin T Strovel, Tina M Cowan, Anna I Scott, et al.
Hearing Research
|
August 19, 2005
Biotinidase reveals the morphogenetic sequence in cochlea and cochlear nucleus of mice
Craig L Brumwell, Waheeda A Hossain, D Kent Morest, et al.
Neurobiology of Disease
|
May 15, 2012
Neurological deficits in mice with profound biotinidase deficiency are associated with demylination and axonal degeneration
Kirit Pindolia, Jieli Chen, Cisley Cardwell, et al.
Multiple Sclerosis (Houndmills, Basingstoke, England)
|
July 24, 2015
Biotinidase deficiency mimicking neuromyelitis optica: Initially exhibiting symptoms in adulthood
Laure Bottin, Sabine Prud'hon, Stéphanie Guey, et al.
Page
of 5