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Hope Northrup

Showing results (111-120 of 157) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2018
Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuriaNicola Longo, David Dimmock, Harvey Levy, et al.
American Journal of Medical Genetics. Part A|February 18, 2017
TSC2 c.1864C>T variant associated with mild cases of tuberous sclerosis complexLaura S Farach, William T Gibson, Steven P Sparagana, et al.
Medrxiv : the Preprint Server for Health Sciences|June 10, 2024
Morphometric Analysis of Spina Bifida after Fetal Repair Shows New Subtypes with Associated OutcomesLovepreet K Mann, Shreya Pandiri, Neha Agarwal, et al.
The American Psychologist|April 5, 2019
Impacting development in infants with tuberous sclerosis complex: Multidisciplinary research collaborationMarian E Williams, Deborah A Pearson, Jamie K Capal, et al.
Pediatric Research|July 1, 2021
Birth defect co-occurrence patterns in the Texas Birth Defects RegistryRenata H Benjamin, Angela E Scheuerle, Daryl A Scott, et al.
Journal of Neurosurgery|May 11, 2005
Spinal lesion level in spina bifida: a source of neural and cognitive heterogeneityJack M Fletcher, Kim Copeland, Jon A Frederick, et al.
Epilepsia|November 7, 2019
Scalp EEG spikes predict impending epilepsy in TSC infants: A longitudinal observational studyJoyce Y Wu, Monisha Goyal, Jurriaan M Peters, et al.
Human Molecular Genetics|December 11, 2012
Copy number variation analysis implicates the cell polarity gene glypican 5 as a human spina bifida candidate geneAlexander G Bassuk, Lakshmi B Muthuswamy, Riley Boland, et al.
Nature Metabolism|September 28, 2023
Efficacy and safety of a synthetic biotic for treatment of phenylketonuria: a phase 2 clinical trialJerry Vockley, Neal Sondheimer, Marja Puurunen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 17, 2007
Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United StatesKit Sing Au, Aimee T Williams, E Steve Roach, et al.
Pageof 16

Showing results (111-120 of 157) with videos related to

Sort By:
Pageof 16
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2018
Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuriaNicola Longo, David Dimmock, Harvey Levy, et al.
American Journal of Medical Genetics. Part A|February 18, 2017
TSC2 c.1864C>T variant associated with mild cases of tuberous sclerosis complexLaura S Farach, William T Gibson, Steven P Sparagana, et al.
Medrxiv : the Preprint Server for Health Sciences|June 10, 2024
Morphometric Analysis of Spina Bifida after Fetal Repair Shows New Subtypes with Associated OutcomesLovepreet K Mann, Shreya Pandiri, Neha Agarwal, et al.
The American Psychologist|April 5, 2019
Impacting development in infants with tuberous sclerosis complex: Multidisciplinary research collaborationMarian E Williams, Deborah A Pearson, Jamie K Capal, et al.
Pediatric Research|July 1, 2021
Birth defect co-occurrence patterns in the Texas Birth Defects RegistryRenata H Benjamin, Angela E Scheuerle, Daryl A Scott, et al.
Journal of Neurosurgery|May 11, 2005
Spinal lesion level in spina bifida: a source of neural and cognitive heterogeneityJack M Fletcher, Kim Copeland, Jon A Frederick, et al.
Epilepsia|November 7, 2019
Scalp EEG spikes predict impending epilepsy in TSC infants: A longitudinal observational studyJoyce Y Wu, Monisha Goyal, Jurriaan M Peters, et al.
Human Molecular Genetics|December 11, 2012
Copy number variation analysis implicates the cell polarity gene glypican 5 as a human spina bifida candidate geneAlexander G Bassuk, Lakshmi B Muthuswamy, Riley Boland, et al.
Nature Metabolism|September 28, 2023
Efficacy and safety of a synthetic biotic for treatment of phenylketonuria: a phase 2 clinical trialJerry Vockley, Neal Sondheimer, Marja Puurunen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 17, 2007
Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United StatesKit Sing Au, Aimee T Williams, E Steve Roach, et al.
Pageof 16