Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Susan A Berry

Showing results (31-40 of 74) with videos related to

Pageof 8
Sort By:
Molecular Genetics and Metabolism|April 2, 2016
Outcomes of cases with 3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency - Report from the Inborn Errors of Metabolism Information SystemRaeLynn Forsyth, Catherine Walsh Vockley, Mathew J Edick, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 1, 2011
What questions should newborn screening long-term follow-up be able to answer? A statement of the US Secretary for Health and Human Services' Advisory Committee on Heritable Disorders in Newborns and ChildrenCynthia F Hinton, Lisa Feuchtbaum, Christopher A Kus, et al.
Journal of Genetic Counseling|February 10, 2024
Perspectives of genetic counseling supervisors regarding genetic counseling students' attainment of practice-based competencies in clinical care through remote supervisionKate P Shane-Carson, Loan Stone, Kaitlin Justice, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 9, 2013
Newborn screening 50 years later: access issues faced by adults with PKUSusan A Berry, Christine Brown, Mitzie Grant, et al.
Molecular Genetics and Metabolism|August 2, 2016
221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism CollaborativeKristi Bentler, Shaohui Zhai, Sara A Elsbecker, et al.
Journal of Neurodevelopmental Disorders|June 20, 2018
Social skills in children with RASopathies: a comparison of Noonan syndrome and neurofibromatosis type 1Elizabeth I Pierpont, Rebekah L Hudock, Allison M Foy, et al.
The Journal of Pediatrics|October 26, 2016
Comparison of Methods of Initial Ascertainment in 58 Cases of Propionic Acidemia Enrolled in the Inborn Errors of Metabolism Information System Reveals Significant Differences in Time to Evaluation and Symptoms at PresentationNicholas M McCrory, Mathew J Edick, Ayesha Ahmad, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 4, 2014
Phenylalanine hydroxylase deficiency: diagnosis and management guidelineJerry Vockley, Hans C Andersson, Kevin M Antshel, et al.
Molecular Genetics and Metabolism|September 17, 2017
Safety and efficacy of glycerol phenylbutyrate for management of urea cycle disorders in patients aged 2months to 2yearsSusan A Berry, Nicola Longo, George A Diaz, et al.
Journal of Genetic Counseling|April 29, 2017
An Exploration of Genetic Test Utilization, Genetic Counseling, and Consanguinity within the Inborn Errors of Metabolism Collaborative (IBEMC)Quinn P Stein, Cate Walsh Vockley, Mathew J Edick, et al.
Pageof 8

Showing results (31-40 of 74) with videos related to

Sort By:
Pageof 8
Molecular Genetics and Metabolism|April 2, 2016
Outcomes of cases with 3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency - Report from the Inborn Errors of Metabolism Information SystemRaeLynn Forsyth, Catherine Walsh Vockley, Mathew J Edick, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 1, 2011
What questions should newborn screening long-term follow-up be able to answer? A statement of the US Secretary for Health and Human Services' Advisory Committee on Heritable Disorders in Newborns and ChildrenCynthia F Hinton, Lisa Feuchtbaum, Christopher A Kus, et al.
Journal of Genetic Counseling|February 10, 2024
Perspectives of genetic counseling supervisors regarding genetic counseling students' attainment of practice-based competencies in clinical care through remote supervisionKate P Shane-Carson, Loan Stone, Kaitlin Justice, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 9, 2013
Newborn screening 50 years later: access issues faced by adults with PKUSusan A Berry, Christine Brown, Mitzie Grant, et al.
Molecular Genetics and Metabolism|August 2, 2016
221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism CollaborativeKristi Bentler, Shaohui Zhai, Sara A Elsbecker, et al.
Journal of Neurodevelopmental Disorders|June 20, 2018
Social skills in children with RASopathies: a comparison of Noonan syndrome and neurofibromatosis type 1Elizabeth I Pierpont, Rebekah L Hudock, Allison M Foy, et al.
The Journal of Pediatrics|October 26, 2016
Comparison of Methods of Initial Ascertainment in 58 Cases of Propionic Acidemia Enrolled in the Inborn Errors of Metabolism Information System Reveals Significant Differences in Time to Evaluation and Symptoms at PresentationNicholas M McCrory, Mathew J Edick, Ayesha Ahmad, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 4, 2014
Phenylalanine hydroxylase deficiency: diagnosis and management guidelineJerry Vockley, Hans C Andersson, Kevin M Antshel, et al.
Molecular Genetics and Metabolism|September 17, 2017
Safety and efficacy of glycerol phenylbutyrate for management of urea cycle disorders in patients aged 2months to 2yearsSusan A Berry, Nicola Longo, George A Diaz, et al.
Journal of Genetic Counseling|April 29, 2017
An Exploration of Genetic Test Utilization, Genetic Counseling, and Consanguinity within the Inborn Errors of Metabolism Collaborative (IBEMC)Quinn P Stein, Cate Walsh Vockley, Mathew J Edick, et al.
Pageof 8