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Nancy Braverman

Showing results (41-50 of 68) with videos related to

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Scientific Reports|April 22, 2022
Clinical diagnosis of metabolic disorders using untargeted metabolomic profiling and disease-specific networks learned from profiling dataLillian R Thistlethwaite, Xiqi Li, Lindsay C Burrage, et al.
Journal of Magnetic Resonance Imaging : JMRI|August 28, 2004
Metabolites in ventricular cerebrospinal fluid detected by proton magnetic resonance spectroscopic imagingLidia M Nagae-Poetscher, Michael McMahon, Nancy Braverman, et al.
European Journal of Medical Genetics|August 3, 2018
Renal tubular dysgenesis and microcolon, a novel association. Report of three casesAvi Saskin, Ahmed Alfares, Chantal Bernard, et al.
American Journal of Medical Genetics|February 22, 2002
Progressive cerebral edema associated with high methionine levels and betaine therapy in a patient with cystathionine beta-synthase (CBS) deficiencyReza Yaghmai, Amir H Kashani, Michael T Geraghty, et al.
Human Mutation|September 27, 2002
Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotypeNancy Braverman, Li Chen, Paul Lin, et al.
European Journal of Pediatrics|December 8, 2004
Mucolipidosis II presenting as severe neonatal hyperparathyroidismSheila Unger, David A Paul, Michelle C Nino, et al.
Neurogenetics|February 2, 2022
Clinical, neuroradiological, and molecular characterization of patients with atypical Zellweger spectrum disorder caused by PEX16 mutations: a case seriesAnthony Cheung, Catherine Argyriou, Christine Yergeau, et al.
Pflugers Archiv : European Journal of Physiology|April 16, 2004
Mutational and functional analysis of SLC4A4 in a patient with proximal renal tubular acidosisJun Inatomi, Shoko Horita, Nancy Braverman, et al.
Stem Cells (Dayton, Ohio)|July 29, 2025
Loss of peroxisome function promotes oxidative stress induced hematopoiesisEmma A Schindhelm, Amada Blake, Megan M Constans, et al.
Molecular Genetics and Metabolism|March 20, 2025
Using multiple modalities to confirm diagnosis in patients with suspected peroxisome biogenesis disordersAnthony C T Cheung, Erminia Di Pietro, Catherine Argyriou, et al.
Pageof 7

Showing results (41-50 of 68) with videos related to

Sort By:
Pageof 7
Scientific Reports|April 22, 2022
Clinical diagnosis of metabolic disorders using untargeted metabolomic profiling and disease-specific networks learned from profiling dataLillian R Thistlethwaite, Xiqi Li, Lindsay C Burrage, et al.
Journal of Magnetic Resonance Imaging : JMRI|August 28, 2004
Metabolites in ventricular cerebrospinal fluid detected by proton magnetic resonance spectroscopic imagingLidia M Nagae-Poetscher, Michael McMahon, Nancy Braverman, et al.
European Journal of Medical Genetics|August 3, 2018
Renal tubular dysgenesis and microcolon, a novel association. Report of three casesAvi Saskin, Ahmed Alfares, Chantal Bernard, et al.
American Journal of Medical Genetics|February 22, 2002
Progressive cerebral edema associated with high methionine levels and betaine therapy in a patient with cystathionine beta-synthase (CBS) deficiencyReza Yaghmai, Amir H Kashani, Michael T Geraghty, et al.
Human Mutation|September 27, 2002
Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotypeNancy Braverman, Li Chen, Paul Lin, et al.
European Journal of Pediatrics|December 8, 2004
Mucolipidosis II presenting as severe neonatal hyperparathyroidismSheila Unger, David A Paul, Michelle C Nino, et al.
Neurogenetics|February 2, 2022
Clinical, neuroradiological, and molecular characterization of patients with atypical Zellweger spectrum disorder caused by PEX16 mutations: a case seriesAnthony Cheung, Catherine Argyriou, Christine Yergeau, et al.
Pflugers Archiv : European Journal of Physiology|April 16, 2004
Mutational and functional analysis of SLC4A4 in a patient with proximal renal tubular acidosisJun Inatomi, Shoko Horita, Nancy Braverman, et al.
Stem Cells (Dayton, Ohio)|July 29, 2025
Loss of peroxisome function promotes oxidative stress induced hematopoiesisEmma A Schindhelm, Amada Blake, Megan M Constans, et al.
Molecular Genetics and Metabolism|March 20, 2025
Using multiple modalities to confirm diagnosis in patients with suspected peroxisome biogenesis disordersAnthony C T Cheung, Erminia Di Pietro, Catherine Argyriou, et al.
Pageof 7