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Andrea Gropman

Showing results (71-80 of 86) with videos related to

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The Lancet. Neurology|July 7, 2014
Oral cysteamine bitartrate and N-acetylcysteine for patients with infantile neuronal ceroid lipofuscinosis: a pilot studySondra W Levin, Eva H Baker, Wadih M Zein, et al.
Human Genetics|February 19, 2017
Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variantsSeth I Berger, Carla Ciccone, Karen L Simon, et al.
American Journal of Human Genetics|April 11, 2003
Mutations of MYO6 are associated with recessive deafness, DFNB37Zubair M Ahmed, Robert J Morell, Saima Riazuddin, et al.
Molecular Genetics and Metabolism|October 12, 2011
Natural history of propionic acidemiaLoren Pena, Jill Franks, Kimberly A Chapman, et al.
Molecular Genetics and Metabolism|April 25, 2018
Novel founder intronic variant in SLC39A14 in two families causing Manganism and potential treatment strategiesLance H Rodan, Marissa Hauptman, Alissa M D'Gama, et al.
Journal of Inherited Metabolic Disease|March 25, 2026
Clinical and Genetic Characteristics of Free Sialic Acid Storage DisorderZoe Wolfenson, Gabriella Grois, Ruth F Hailemeskel, et al.
SAGE Open Medicine|November 1, 2024
Negative effect of treatment with mGluR5 negative allosteric modulator AFQ056 on blood biomarkers in young individuals with Fragile X syndromeDragana Protic, Elizabeth Breeze, Guadalupe Mendoza, et al.
Molecular Genetics and Metabolism Reports|November 24, 2022
Malate dehydrogenase 2 deficiency is an emerging cause of pediatric epileptic encephalopathy with a recognizable biochemical signatureJessica R C Priestley, Lisa M Pace, Kuntal Sen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 13, 2012
The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseasesWilliam A Gahl, Thomas C Markello, Camilo Toro, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 9, 2016
Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylationChristina Lam, Carlos Ferreira, Donna Krasnewich, et al.
Pageof 9

Showing results (71-80 of 86) with videos related to

Sort By:
Pageof 9
The Lancet. Neurology|July 7, 2014
Oral cysteamine bitartrate and N-acetylcysteine for patients with infantile neuronal ceroid lipofuscinosis: a pilot studySondra W Levin, Eva H Baker, Wadih M Zein, et al.
Human Genetics|February 19, 2017
Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variantsSeth I Berger, Carla Ciccone, Karen L Simon, et al.
American Journal of Human Genetics|April 11, 2003
Mutations of MYO6 are associated with recessive deafness, DFNB37Zubair M Ahmed, Robert J Morell, Saima Riazuddin, et al.
Molecular Genetics and Metabolism|October 12, 2011
Natural history of propionic acidemiaLoren Pena, Jill Franks, Kimberly A Chapman, et al.
Molecular Genetics and Metabolism|April 25, 2018
Novel founder intronic variant in SLC39A14 in two families causing Manganism and potential treatment strategiesLance H Rodan, Marissa Hauptman, Alissa M D'Gama, et al.
Journal of Inherited Metabolic Disease|March 25, 2026
Clinical and Genetic Characteristics of Free Sialic Acid Storage DisorderZoe Wolfenson, Gabriella Grois, Ruth F Hailemeskel, et al.
SAGE Open Medicine|November 1, 2024
Negative effect of treatment with mGluR5 negative allosteric modulator AFQ056 on blood biomarkers in young individuals with Fragile X syndromeDragana Protic, Elizabeth Breeze, Guadalupe Mendoza, et al.
Molecular Genetics and Metabolism Reports|November 24, 2022
Malate dehydrogenase 2 deficiency is an emerging cause of pediatric epileptic encephalopathy with a recognizable biochemical signatureJessica R C Priestley, Lisa M Pace, Kuntal Sen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 13, 2012
The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseasesWilliam A Gahl, Thomas C Markello, Camilo Toro, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 9, 2016
Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylationChristina Lam, Carlos Ferreira, Donna Krasnewich, et al.
Pageof 9