Showing results (1-10 of 87) with videos related to
Sort By:
Pageof 9
Turkish Archives of Pediatrics|March 1, 2023
Creatine Deficiency Disorders: Phenotypes, Genotypes, Diagnosis, and Treatment OutcomesCrystal Mulik, Saadet Mercimek-AndrewsInternational Journal of Molecular Sciences|August 6, 2020
Inherited Metabolic Disorders Presenting with AtaxiaGrace Silver, Saadet Mercimek-AndrewsHuman Mutation|June 23, 2025
Functional Characterization of Variants in LARP7: Report of Three New Individuals With Alazami Syndrome and a Literature ReviewAnastasia Ambrose, Oana Caluseriu, Saadet Mercimek-AndrewsMolecular Genetics and Metabolism Reports|March 25, 2021
Lysinuric protein intolerance mimicking N-acetylglutamate synthase deficiency in a nine-year-old boySarah Al-Qattan, Caroline Malcolmson, Saadet Mercimek-AndrewsEuropean Journal of Human Genetics : EJHG|August 25, 2018
DNAJC12-associated developmental delay, movement disorder, and mild hyperphenylalaninemia identified by whole-exome sequencing re-analysisDanielle Veenma, Dawn Cordeiro, Neal Sondheimer, et al.American Journal of Medical Genetics. Part A|March 29, 2024
Importance of the biochemical investigations for the functional characterization of a NPC1 variant identified by exome sequencingNihal Almenabawy, Clara Hung, Iveta Sosova, et al.Neuroscience|September 6, 2019
Clinical Application of Targeted Next-Generation Sequencing Panels and Whole Exome Sequencing in Childhood EpilepsyGregory Costain, Dawn Cordeiro, Diana Matviychuk, et al.Cellular and Molecular Life Sciences : CMLS|April 17, 2024
Dodecyl creatine ester therapy: from promise to realityAloïse Mabondzo, Jiddeke van de Kamp, Saadet Mercimek-AndrewsAmerican Journal of Medical Genetics. Part A|April 18, 2018
Transcobalamin receptor defect: Identification of two new cases through positive newborn screening for propionic/methylmalonic aciduria and long-term outcomeFady Hannah-Shmouni, Vivian Cruz, Andreas Schulze, et al.Orphanet Journal of Rare Diseases|December 3, 2020
Urine creatine metabolite panel as a screening test in neurodevelopmental disordersShalini Bahl, Dawn Cordeiro, Lauren MacNeil, et al.Pageof 9