Showing results (1-10 of 16) with videos related to
Sort By:
Pageof 2
Disability and Health Journal|November 15, 2020
Kleefstra syndrome: Impact on parentsAlexandria Haseley, Kimberly Wallis, Suzanne DeBrosseThe Journal of Clinical and Aesthetic Dermatology|September 5, 2020
WNT10A Mutation Causes Ectodermal Dysplasia in a Patient Mosaic for Turner SyndromeSelena R Pasadyn, Alexandria Haseley, Mahwish IrfanSeminars in Pediatric Neurology|December 19, 2012
Neurologic disorders due to mitochondrial DNA mutationsSuzanne Debrosse, Sumit ParikhJournal 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.American Journal of Medical Genetics. Part A|January 16, 2026
Homozygous Achondroplasia With Long-Term Survival: Growth Patterns, Medical Interventions, and Practice ImplicationsHannah Singerline, Jason Laufman, Kimberly Wallis, et al.Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|December 12, 2018
The increasing challenge of genetic counseling for cystic fibrosisKimberly E Foil, Amy Powers, Karen S Raraigh, 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.Annals of Neurology|February 22, 2018
Mutations in SCN3A cause early infantile epileptic encephalopathyTariq Zaman, Ingo Helbig, Ivana Babić Božović, et al.Pageof 2