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

Deborah S Barbouth

Showing results (1-10 of 12) with videos related to

Pageof 2
Sort By:
Continuum (Minneapolis, Minn.)|July 20, 2012
Patient management problem-preferred responsesDeborah S Barbouth, Neal J Weinreb
Journal of Pediatric Genetics|May 13, 2017
Klinefelter Syndrome in Association with Tetralogy of Fallot and Congenital Diaphragmatic HerniaSethuraman Swaminathan, Sudheer R Gorla, Deborah S Barbouth
Blood Cells, Molecules & Diseases|November 7, 2016
Causes of death in 184 patients with type 1 Gaucher disease from the United States who were never treated with enzyme replacement therapyNeal J Weinreb, Deborah S Barbouth, Robert E Lee
Pediatric Dermatology|August 27, 2009
Macrocephaly-capillary malformation: a report of three cases and review of the literatureMercedes E Gonzalez, Cynthia J Burk, Deborah S Barbouth, et al.
Journal of Pediatric Genetics|November 16, 2018
Infantile Onset Hypertrophic Cardiomyopathy Secondary to PRKAG2 Gene Mutation is Associated with Poor PrognosisSudheer R Gorla, Kishore R Raja, Ashish Garg, et al.
American Journal of Medical Genetics. Part A|May 9, 2019
Arnold-Chiari type 1 malformation in Potocki-Lupski syndromeAlberto Varon, Zachary Whitt, Paige M Kalika, et al.
Pediatric Research|October 25, 2007
Screening newborns for galactosemia using total body galactose oxidation to CO2 in expired airDeborah S Barbouth, Darcy L Velazquez, Stanley Konopka, et al.
Ophthalmic Genetics|May 29, 2025
Novel <i>KMT2D</i> pathogenic variant causing Kabuki Syndrome with associated macular abnormalities and retinopathy of prematurityFrancisco J López-Font, Sofia De Arrigunaga, Natasha F Santos da Cruz, et al.
Orphanet Journal of Rare Diseases|October 9, 2015
Early treatment with laronidase improves clinical outcomes in patients with attenuated MPS I: a retrospective case series analysis of nine sibshipsNouriya A Al-Sannaa, Luisa Bay, Deborah S Barbouth, et al.
JCI Insight|February 1, 2024
ADAMTSL2 mutations determine the phenotypic severity in geleophysic dysplasiaVladimir Camarena, Monique M Williams, Alejo A Morales, et al.
Pageof 2

Showing results (1-10 of 12) with videos related to

Sort By:
Pageof 2
Continuum (Minneapolis, Minn.)|July 20, 2012
Patient management problem-preferred responsesDeborah S Barbouth, Neal J Weinreb
Journal of Pediatric Genetics|May 13, 2017
Klinefelter Syndrome in Association with Tetralogy of Fallot and Congenital Diaphragmatic HerniaSethuraman Swaminathan, Sudheer R Gorla, Deborah S Barbouth
Blood Cells, Molecules & Diseases|November 7, 2016
Causes of death in 184 patients with type 1 Gaucher disease from the United States who were never treated with enzyme replacement therapyNeal J Weinreb, Deborah S Barbouth, Robert E Lee
Pediatric Dermatology|August 27, 2009
Macrocephaly-capillary malformation: a report of three cases and review of the literatureMercedes E Gonzalez, Cynthia J Burk, Deborah S Barbouth, et al.
Journal of Pediatric Genetics|November 16, 2018
Infantile Onset Hypertrophic Cardiomyopathy Secondary to PRKAG2 Gene Mutation is Associated with Poor PrognosisSudheer R Gorla, Kishore R Raja, Ashish Garg, et al.
American Journal of Medical Genetics. Part A|May 9, 2019
Arnold-Chiari type 1 malformation in Potocki-Lupski syndromeAlberto Varon, Zachary Whitt, Paige M Kalika, et al.
Pediatric Research|October 25, 2007
Screening newborns for galactosemia using total body galactose oxidation to CO2 in expired airDeborah S Barbouth, Darcy L Velazquez, Stanley Konopka, et al.
Ophthalmic Genetics|May 29, 2025
Novel <i>KMT2D</i> pathogenic variant causing Kabuki Syndrome with associated macular abnormalities and retinopathy of prematurityFrancisco J López-Font, Sofia De Arrigunaga, Natasha F Santos da Cruz, et al.
Orphanet Journal of Rare Diseases|October 9, 2015
Early treatment with laronidase improves clinical outcomes in patients with attenuated MPS I: a retrospective case series analysis of nine sibshipsNouriya A Al-Sannaa, Luisa Bay, Deborah S Barbouth, et al.
JCI Insight|February 1, 2024
ADAMTSL2 mutations determine the phenotypic severity in geleophysic dysplasiaVladimir Camarena, Monique M Williams, Alejo A Morales, et al.
Pageof 2