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

Suzanne DeBrosse

Showing results (1-10 of 9) with videos related to

Pageof 1
Sort By:
Seminars in Pediatric Neurology|December 19, 2012
Neurologic disorders due to mitochondrial DNA mutationsSuzanne Debrosse, Sumit Parikh
Disability and Health Journal|November 15, 2020
Kleefstra syndrome: Impact on parentsAlexandria Haseley, Kimberly Wallis, Suzanne DeBrosse
Journal of Pediatric Hematology/Oncology|June 14, 2022
Case Report: 2-Year-old With Wilms Tumors, Familial Heterozygous DIS3L2 Mutation, and Cutis Marmorata Telangiectatica CongenitaCameron D Friedman, Suzanne DeBrosse, Anna Mitchell, et al.
Molecular Genetics & Genomic Medicine|August 3, 2019
The expanding phenotype of OFD1-related disorders: Hemizygous loss-of-function variants in three patients with primary ciliary dyskinesiaWilliam B Hannah, Suzanne DeBrosse, BreAnna Kinghorn, et al.
Neurology. Genetics|November 11, 2016
FHF1 (FGF12) epileptic encephalopathySameer Al-Mehmadi, Miranda Splitt, , et al.
JIMD Reports|November 18, 2020
Utility of specific amino acid ratios in screening for pyruvate dehydrogenase complex deficiencies and other mitochondrial disorders associated with congenital lactic acidosis and newborn screening prospectsJirair K Bedoyan, Rosemary Hage, Ha Kyung Shin, et al.
Molecular Genetics and Metabolism|October 23, 2015
Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwideSylvia Stockler-Ipsiroglu, Delia Apatean, Roberta Battini, et al.
Neurology. Genetics|March 16, 2017
Research conference summary from the 2014 International Task Force on <i>ATP1A3</i>-Related DisordersHendrik Rosewich, Matthew T Sweney, Suzanne DeBrosse, et al.
Human Molecular Genetics|October 17, 2017
De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defectsAnne Slavotinek, Maurizio Risolino, Marta Losa, et al.
Pageof 1

Showing results (1-10 of 9) with videos related to

Sort By:
Pageof 1
Seminars in Pediatric Neurology|December 19, 2012
Neurologic disorders due to mitochondrial DNA mutationsSuzanne Debrosse, Sumit Parikh
Disability and Health Journal|November 15, 2020
Kleefstra syndrome: Impact on parentsAlexandria Haseley, Kimberly Wallis, Suzanne DeBrosse
Journal of Pediatric Hematology/Oncology|June 14, 2022
Case Report: 2-Year-old With Wilms Tumors, Familial Heterozygous DIS3L2 Mutation, and Cutis Marmorata Telangiectatica CongenitaCameron D Friedman, Suzanne DeBrosse, Anna Mitchell, et al.
Molecular Genetics & Genomic Medicine|August 3, 2019
The expanding phenotype of OFD1-related disorders: Hemizygous loss-of-function variants in three patients with primary ciliary dyskinesiaWilliam B Hannah, Suzanne DeBrosse, BreAnna Kinghorn, et al.
Neurology. Genetics|November 11, 2016
FHF1 (FGF12) epileptic encephalopathySameer Al-Mehmadi, Miranda Splitt, , et al.
JIMD Reports|November 18, 2020
Utility of specific amino acid ratios in screening for pyruvate dehydrogenase complex deficiencies and other mitochondrial disorders associated with congenital lactic acidosis and newborn screening prospectsJirair K Bedoyan, Rosemary Hage, Ha Kyung Shin, et al.
Molecular Genetics and Metabolism|October 23, 2015
Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwideSylvia Stockler-Ipsiroglu, Delia Apatean, Roberta Battini, et al.
Neurology. Genetics|March 16, 2017
Research conference summary from the 2014 International Task Force on <i>ATP1A3</i>-Related DisordersHendrik Rosewich, Matthew T Sweney, Suzanne DeBrosse, et al.
Human Molecular Genetics|October 17, 2017
De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defectsAnne Slavotinek, Maurizio Risolino, Marta Losa, et al.
Pageof 1