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Orphanet Journal of Rare Diseases
|
November 28, 2018
Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia
Minela Haskovic, Britt Derks, Liesbeth van der Ploeg, et al.
Orphanet Journal of Rare Diseases
|
September 2, 2022
Galactose epimerase deficiency: lessons from the GalNet registry
Britt Derks, Didem Demirbas, Rodrigo R Arantes, et al.
Nature Immunology
|
June 22, 2026
Fate induction through asymmetric T cell division is modulated by chimeric antigen receptor costimulatory domains
Caitlin S Frazee, Sisi Chen, Corbett T Berry, et al.
Epilepsia
|
June 14, 2012
Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy
Annapurna Poduri, Sameer S Chopra, Edward G Neilan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 17, 2012
Exploring concordance and discordance for return of incidental findings from clinical sequencing
Robert C Green, Jonathan S Berg, Gerard T Berry, et al.
Orphanet Journal of Rare Diseases
|
March 10, 2026
Characterizing the frequency of clinical events and assessing biomarkers in propionic acidemia: a natural history study
Bernd C Schwahn, Gerard T Berry, Hilary J Vernon, et al.
Translational Science of Rare Diseases
|
January 8, 2019
Conducting an investigator-initiated randomized double-blinded intervention trial in acute decompensation of inborn errors of metabolism: Lessons from the N-Carbamylglutamate Consortium
Nicholas Ah Mew, Avital Cnaan, Robert McCarter, et al.
Journal of Inherited Metabolic Disease
|
March 28, 2012
Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes
Patricia P Jumbo-Lucioni, Kathryn Garber, John Kiel, et al.
Journal of Neuropathology and Experimental Neurology
|
September 11, 2016
Hippocampal Formation Maldevelopment and Sudden Unexpected Death across the Pediatric Age Spectrum
Hannah C Kinney, Annapurna H Poduri, Jane B Cryan, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
July 31, 2013
Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemia
Irini Manoli, Justin R Sysol, Lingli Li, et al.
Page
of 78
Search research articles
Search
Showing results (401-410 of 780) with videos related to
Sort By:
Page
of 78
Orphanet Journal of Rare Diseases
|
November 28, 2018
Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia
Minela Haskovic, Britt Derks, Liesbeth van der Ploeg, et al.
Orphanet Journal of Rare Diseases
|
September 2, 2022
Galactose epimerase deficiency: lessons from the GalNet registry
Britt Derks, Didem Demirbas, Rodrigo R Arantes, et al.
Nature Immunology
|
June 22, 2026
Fate induction through asymmetric T cell division is modulated by chimeric antigen receptor costimulatory domains
Caitlin S Frazee, Sisi Chen, Corbett T Berry, et al.
Epilepsia
|
June 14, 2012
Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy
Annapurna Poduri, Sameer S Chopra, Edward G Neilan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 17, 2012
Exploring concordance and discordance for return of incidental findings from clinical sequencing
Robert C Green, Jonathan S Berg, Gerard T Berry, et al.
Orphanet Journal of Rare Diseases
|
March 10, 2026
Characterizing the frequency of clinical events and assessing biomarkers in propionic acidemia: a natural history study
Bernd C Schwahn, Gerard T Berry, Hilary J Vernon, et al.
Translational Science of Rare Diseases
|
January 8, 2019
Conducting an investigator-initiated randomized double-blinded intervention trial in acute decompensation of inborn errors of metabolism: Lessons from the N-Carbamylglutamate Consortium
Nicholas Ah Mew, Avital Cnaan, Robert McCarter, et al.
Journal of Inherited Metabolic Disease
|
March 28, 2012
Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes
Patricia P Jumbo-Lucioni, Kathryn Garber, John Kiel, et al.
Journal of Neuropathology and Experimental Neurology
|
September 11, 2016
Hippocampal Formation Maldevelopment and Sudden Unexpected Death across the Pediatric Age Spectrum
Hannah C Kinney, Annapurna H Poduri, Jane B Cryan, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
July 31, 2013
Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemia
Irini Manoli, Justin R Sysol, Lingli Li, et al.
Page
of 78