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Deborah L Renaud

Showing results (21-30 of 42) with videos related to

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Pediatric Neurology|April 22, 2009
MRS is the test of choice for detecting and monitoring disorders of creatine metabolismAndrew V Barger, Norbert G Campeau, John D Port, et al.
Pediatric Neurology|May 7, 2002
Intracranial calcification, retinopathy, and osteopenia: a new syndrome?Mona Sazgar, Norma J Leonard, Deborah L Renaud, et al.
The Neurologist|November 29, 2023
BRAT1-Associated Leukodystrophy Exacerbated by Classic Hodgkin Lymphoma-Directed TherapySara J Hooshmand, Karan L Chohan, Aditya Raghunathan, et al.
Pediatrics|September 2, 2003
Steroid-responsive encephalopathy associated with Hashimoto's thyroiditis in an adolescent with chronic hallucinations and depression: case report and reviewFarid H Mahmud, Aida N Lteif, Deborah L Renaud, et al.
Child Neurology Open|October 29, 2020
Expansion of <i>PURA</i>-Related Phenotypes and Discovery of a Novel PURA Variant: A Case ReportNicole J Boczek, Erica L Macke, Jennifer Kemppainen, et al.
Neuromuscular Disorders : NMD|January 20, 2019
Targeted gene approach with biochemical assay confirms ABCD1 mutation of X-linked adrenoleukodystrophy in a 62-year-old man with gait imbalanceMichelle L Mauermann, Zhiyv Niu, Deborah L Renaud, et al.
Ophthalmology|September 12, 2020
Nuclear DNA Mutation Causing a Phenotypic Leber Hereditary Optic Neuropathy PlusSasha A Mansukhani, Dev G Mehta, Deborah L Renaud, et al.
Clinical Case Reports|April 19, 2019
Developmental delay, coarse facial features, and epilepsy in a patient with <i>EXT2</i> gene variantsAditi Gupta, Sarah A Ewing, Deborah L Renaud, et al.
American Journal of Medical Genetics. Part A|June 14, 2006
Novel mutations in dihydrolipoamide dehydrogenase deficiency in two cousins with borderline-normal PDH complex activityJessie M Cameron, Valeriy Levandovskiy, Neviana Mackay, et al.
Molecular Genetics & Genomic Medicine|May 23, 2019
Biochemical and clinical response after umbilical cord blood transplant in a boy with early childhood-onset beta-mannosidosisTroy C Lund, Weston P Miller, Julie B Eisengart, et al.
Pageof 5

Showing results (21-30 of 42) with videos related to

Sort By:
Pageof 5
Pediatric Neurology|April 22, 2009
MRS is the test of choice for detecting and monitoring disorders of creatine metabolismAndrew V Barger, Norbert G Campeau, John D Port, et al.
Pediatric Neurology|May 7, 2002
Intracranial calcification, retinopathy, and osteopenia: a new syndrome?Mona Sazgar, Norma J Leonard, Deborah L Renaud, et al.
The Neurologist|November 29, 2023
BRAT1-Associated Leukodystrophy Exacerbated by Classic Hodgkin Lymphoma-Directed TherapySara J Hooshmand, Karan L Chohan, Aditya Raghunathan, et al.
Pediatrics|September 2, 2003
Steroid-responsive encephalopathy associated with Hashimoto's thyroiditis in an adolescent with chronic hallucinations and depression: case report and reviewFarid H Mahmud, Aida N Lteif, Deborah L Renaud, et al.
Child Neurology Open|October 29, 2020
Expansion of <i>PURA</i>-Related Phenotypes and Discovery of a Novel PURA Variant: A Case ReportNicole J Boczek, Erica L Macke, Jennifer Kemppainen, et al.
Neuromuscular Disorders : NMD|January 20, 2019
Targeted gene approach with biochemical assay confirms ABCD1 mutation of X-linked adrenoleukodystrophy in a 62-year-old man with gait imbalanceMichelle L Mauermann, Zhiyv Niu, Deborah L Renaud, et al.
Ophthalmology|September 12, 2020
Nuclear DNA Mutation Causing a Phenotypic Leber Hereditary Optic Neuropathy PlusSasha A Mansukhani, Dev G Mehta, Deborah L Renaud, et al.
Clinical Case Reports|April 19, 2019
Developmental delay, coarse facial features, and epilepsy in a patient with <i>EXT2</i> gene variantsAditi Gupta, Sarah A Ewing, Deborah L Renaud, et al.
American Journal of Medical Genetics. Part A|June 14, 2006
Novel mutations in dihydrolipoamide dehydrogenase deficiency in two cousins with borderline-normal PDH complex activityJessie M Cameron, Valeriy Levandovskiy, Neviana Mackay, et al.
Molecular Genetics & Genomic Medicine|May 23, 2019
Biochemical and clinical response after umbilical cord blood transplant in a boy with early childhood-onset beta-mannosidosisTroy C Lund, Weston P Miller, Julie B Eisengart, et al.
Pageof 5