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Annette Feigenbaum

Showing results (31-40 of 68) with videos related to

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Molecular Genetics and Metabolism|May 10, 2026
Updates to gene-disease classifications and inheritance patterns for porphyriasEmily Brown Reeves, William Hankey, Pepper St Clair, et al.
JIMD Reports|March 11, 2020
Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidenceBernd C Schwahn, Thomas Scheffner, Hedwig Stepman, et al.
Molecular Genetics and Metabolism|August 11, 2019
Assessing the strength of evidence for genes implicated in fatty acid oxidation disorders using the ClinGen clinical validity frameworkJennifer L McGlaughon, Marzia Pasquali, Kathleen Wallace, et al.
Human Genetics|August 21, 2009
Novel human pathological mutations. Gene symbol: ASS1. Disease: CitrullinaemiaDavid Dimmock, Pamela Trapane, Annette Feigenbaum, et al.
Annals of Neurology|January 31, 2003
A new leukoencephalopathy with brainstem and spinal cord involvement and high lactateMarjo S van der Knaap, Patrick van der Voorn, Frederik Barkhof, et al.
Molecular Genetics and Metabolism|January 23, 2009
A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiencyGeorgianne L Arnold, Johan Van Hove, Debra Freedenberg, et al.
Human Genetics|August 21, 2009
Novel human pathological mutations. Gene symbol: ASS1. Disease: CitrullinaemiaDavid Dimmock, Pamela Trapane, Annette Feigenbaum, et al.
American Journal of Medical Genetics. Part A|October 18, 2008
The role of molecular testing and enzyme analysis in the management of hypomorphic citrullinemiaDavid P Dimmock, Pamela Trapane, Annette Feigenbaum, et al.
JIMD Reports|August 3, 2017
Glutaric Aciduria Type 3: Three Unrelated Canadian Cases, with Different Routes of AscertainmentPaula J Waters, Thomas M Kitzler, Annette Feigenbaum, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 3, 2006
Molecular bases of hearing loss in multi-systemic mitochondrial cytopathyFernando Scaglia, Chang-Hung Hsu, Haeyoung Kwon, et al.
Pageof 7

Showing results (31-40 of 68) with videos related to

Sort By:
Pageof 7
Molecular Genetics and Metabolism|May 10, 2026
Updates to gene-disease classifications and inheritance patterns for porphyriasEmily Brown Reeves, William Hankey, Pepper St Clair, et al.
JIMD Reports|March 11, 2020
Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidenceBernd C Schwahn, Thomas Scheffner, Hedwig Stepman, et al.
Molecular Genetics and Metabolism|August 11, 2019
Assessing the strength of evidence for genes implicated in fatty acid oxidation disorders using the ClinGen clinical validity frameworkJennifer L McGlaughon, Marzia Pasquali, Kathleen Wallace, et al.
Human Genetics|August 21, 2009
Novel human pathological mutations. Gene symbol: ASS1. Disease: CitrullinaemiaDavid Dimmock, Pamela Trapane, Annette Feigenbaum, et al.
Annals of Neurology|January 31, 2003
A new leukoencephalopathy with brainstem and spinal cord involvement and high lactateMarjo S van der Knaap, Patrick van der Voorn, Frederik Barkhof, et al.
Molecular Genetics and Metabolism|January 23, 2009
A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiencyGeorgianne L Arnold, Johan Van Hove, Debra Freedenberg, et al.
Human Genetics|August 21, 2009
Novel human pathological mutations. Gene symbol: ASS1. Disease: CitrullinaemiaDavid Dimmock, Pamela Trapane, Annette Feigenbaum, et al.
American Journal of Medical Genetics. Part A|October 18, 2008
The role of molecular testing and enzyme analysis in the management of hypomorphic citrullinemiaDavid P Dimmock, Pamela Trapane, Annette Feigenbaum, et al.
JIMD Reports|August 3, 2017
Glutaric Aciduria Type 3: Three Unrelated Canadian Cases, with Different Routes of AscertainmentPaula J Waters, Thomas M Kitzler, Annette Feigenbaum, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 3, 2006
Molecular bases of hearing loss in multi-systemic mitochondrial cytopathyFernando Scaglia, Chang-Hung Hsu, Haeyoung Kwon, et al.
Pageof 7