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Seminars in Pediatric Neurology|December 19, 2012
Neurologic disorders due to mitochondrial DNA mutationsSuzanne Debrosse, Sumit ParikhDisability and Health Journal|November 15, 2020
Kleefstra syndrome: Impact on parentsAlexandria Haseley, Kimberly Wallis, Suzanne DeBrosseJournal 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 ATP1A3-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