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Annette Feigenbaum

Showing results (21-30 of 68) with videos related to

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Cold Spring Harbor Molecular Case Studies|June 12, 2021
Postmortem whole-genome sequencing on a dried blood spot identifies a novel homozygous SUOX variant causing isolated sulfite oxidase deficiencyMallory J Owen, Jerica Lenberg, Annette Feigenbaum, et al.
Molecular Genetics and Metabolism|October 1, 2014
The natural history of glycogen storage disease types VI and IX: Long-term outcome from the largest metabolic center in CanadaAnne Roscher, Jaina Patel, Stacy Hewson, et al.
American Journal of Medical Genetics. Part A|January 17, 2013
Singleton-Merten syndrome: an autosomal dominant disorder with variable expressionAnnette Feigenbaum, Christine Müller, Christopher Yale, et al.
Liver Transplantation : Official Publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society|October 1, 2008
Abnormal neurological features predict poor survival and should preclude liver transplantation in patients with deoxyguanosine kinase deficiencyDavid P Dimmock, J Kay Dunn, Annette Feigenbaum, 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.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 19, 2014
Long-term developmental progression in infants and young children taking sapropterin for phenylketonuria: a two-year analysis of safety and efficacyNicola Longo, Komudi Siriwardena, Annette Feigenbaum, et al.
American Journal of Medical Genetics. Part A|September 7, 2006
Novel mitochondrial DNA mutations associated with myopathy, cardiomyopathy, renal failure, and deafnessAnnette Feigenbaum, Ren-Kui Bai, Emily S Doherty, et al.
Cold Spring Harbor Molecular Case Studies|February 5, 2020
Mortality in a neonate with molybdenum cofactor deficiency illustrates the need for a comprehensive rapid precision medicine systemStephen F Kingsmore, Nanda Ramchandar, Kiely James, et al.
Journal of the American College of Cardiology|December 10, 2003
Phospholipid abnormalities in children with Barth syndromeMichael Schlame, Richard I Kelley, Annette Feigenbaum, et al.
Molecular Genetics and Metabolism|January 24, 2021
Long-term preservation of intellectual functioning in sapropterin-treated infants and young children with phenylketonuria: A seven-year analysisSusan Waisbren, Barbara K Burton, Annette Feigenbaum, et al.
Pageof 7

Showing results (21-30 of 68) with videos related to

Sort By:
Pageof 7
Cold Spring Harbor Molecular Case Studies|June 12, 2021
Postmortem whole-genome sequencing on a dried blood spot identifies a novel homozygous SUOX variant causing isolated sulfite oxidase deficiencyMallory J Owen, Jerica Lenberg, Annette Feigenbaum, et al.
Molecular Genetics and Metabolism|October 1, 2014
The natural history of glycogen storage disease types VI and IX: Long-term outcome from the largest metabolic center in CanadaAnne Roscher, Jaina Patel, Stacy Hewson, et al.
American Journal of Medical Genetics. Part A|January 17, 2013
Singleton-Merten syndrome: an autosomal dominant disorder with variable expressionAnnette Feigenbaum, Christine Müller, Christopher Yale, et al.
Liver Transplantation : Official Publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society|October 1, 2008
Abnormal neurological features predict poor survival and should preclude liver transplantation in patients with deoxyguanosine kinase deficiencyDavid P Dimmock, J Kay Dunn, Annette Feigenbaum, 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.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 19, 2014
Long-term developmental progression in infants and young children taking sapropterin for phenylketonuria: a two-year analysis of safety and efficacyNicola Longo, Komudi Siriwardena, Annette Feigenbaum, et al.
American Journal of Medical Genetics. Part A|September 7, 2006
Novel mitochondrial DNA mutations associated with myopathy, cardiomyopathy, renal failure, and deafnessAnnette Feigenbaum, Ren-Kui Bai, Emily S Doherty, et al.
Cold Spring Harbor Molecular Case Studies|February 5, 2020
Mortality in a neonate with molybdenum cofactor deficiency illustrates the need for a comprehensive rapid precision medicine systemStephen F Kingsmore, Nanda Ramchandar, Kiely James, et al.
Journal of the American College of Cardiology|December 10, 2003
Phospholipid abnormalities in children with Barth syndromeMichael Schlame, Richard I Kelley, Annette Feigenbaum, et al.
Molecular Genetics and Metabolism|January 24, 2021
Long-term preservation of intellectual functioning in sapropterin-treated infants and young children with phenylketonuria: A seven-year analysisSusan Waisbren, Barbara K Burton, Annette Feigenbaum, et al.
Pageof 7