« Audio 4 » : un test vocal simple et rapide pour le dépistage des surdités moyennes des enfants à l’âge de quatre ans

Autor: Abou Haidar, L., Blond, M.-H., Chautemps, D., Ployet, M.-J. ^*, Lescanne, E.

Publikováno v: In Archives de pédiatrie 2005 12(3):264-272

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Novel pathogenic UQCRC2 variants in a female with normal neurodevelopment.

Autor: Abou Haidar L; Children's Medical Center Research Institute, UT Southwestern Medical Center, Dallas, Texas 75390, USA.; Howard Hughes Medical Institute, UT Southwestern Medical Center, Dallas, Texas 75390, USA., Harris RC; Children's Medical Center Research Institute, UT Southwestern Medical Center, Dallas, Texas 75390, USA.; Howard Hughes Medical Institute, UT Southwestern Medical Center, Dallas, Texas 75390, USA., Pachnis P; Children's Medical Center Research Institute, UT Southwestern Medical Center, Dallas, Texas 75390, USA.; Department of Pediatrics, UT Southwestern Medical Center, Dallas, Texas 75390, USA., Chen H; Children's Medical Center Research Institute, UT Southwestern Medical Center, Dallas, Texas 75390, USA., Gotway GK; Department of Pediatrics, UT Southwestern Medical Center, Dallas, Texas 75390, USA.; Eugene McDermott Center for Human Growth and Development, UT Southwestern Medical Center, Dallas, Texas 75390, USA.; Department of Internal Medicine, UT Southwestern Medical Center, Dallas, Texas 75390, USA., Ni M; Children's Medical Center Research Institute, UT Southwestern Medical Center, Dallas, Texas 75390, USA.; Department of Pediatrics, UT Southwestern Medical Center, Dallas, Texas 75390, USA., DeBerardinis RJ; Children's Medical Center Research Institute, UT Southwestern Medical Center, Dallas, Texas 75390, USA; ralph.deberardinis@utsouthwestern.edu.; Howard Hughes Medical Institute, UT Southwestern Medical Center, Dallas, Texas 75390, USA.; Department of Pediatrics, UT Southwestern Medical Center, Dallas, Texas 75390, USA.; Eugene McDermott Center for Human Growth and Development, UT Southwestern Medical Center, Dallas, Texas 75390, USA.

Publikováno v: Cold Spring Harbor molecular case studies [Cold Spring Harb Mol Case Stud] 2024 Jan 10; Vol. 9 (4). Date of Electronic Publication: 2024 Jan 10 (Print Publication: 2023).