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Retinal Degeneration Associated With the G1606A Mitochondrial Mutation.
Mansour HA, Chacko JA, Sanders RN, Schaefer GB, Uwaydat SH. Mansour HA, et al. Among authors: schaefer gb. Ophthalmic Surg Lasers Imaging Retina. 2022 Feb;53(2):116-119. doi: 10.3928/23258160-20220121-04. Epub 2022 Feb 1. Ophthalmic Surg Lasers Imaging Retina. 2022. PMID: 35148219
Multimodal imaging of an RPGR carrier female.
Kilgore DA, Kilgore TA, Sukpraprut-Braaten S, Schaefer GB, Uwaydat SH. Kilgore DA, et al. Among authors: schaefer gb. Ophthalmic Genet. 2021 Jun;42(3):312-316. doi: 10.1080/13816810.2021.1881981. Epub 2021 Feb 23. Ophthalmic Genet. 2021. PMID: 33620278
Bilateral familial nevus of Ota.
Goyal S, Uwaydat SH, Phillips PH, Schaefer GB. Goyal S, et al. Among authors: schaefer gb. J AAPOS. 2014 Dec;18(6):609-10. doi: 10.1016/j.jaapos.2014.07.169. Epub 2014 Nov 13. J AAPOS. 2014. PMID: 25448143
Erythropoietin and Brain Magnetic Resonance Imaging Findings in Hypoxic-Ischemic Encephalopathy: Volume of Acute Brain Injury and 1-Year Neurodevelopmental Outcome.
Mulkey SB, Ramakrishnaiah RH, McKinstry RC, Chang T, Mathur AM, Mayock DE, Van Meurs KP, Schaefer GB, Luo C, Bai S, Juul SE, Wu YW. Mulkey SB, et al. Among authors: schaefer gb. J Pediatr. 2017 Jul;186:196-199. doi: 10.1016/j.jpeds.2017.03.053. Epub 2017 Apr 26. J Pediatr. 2017. PMID: 28456387 Clinical Trial.
Additional de novo missense genetic variants in NALCN associated with CLIFAHDD syndrome.
Vivero M, Cho MT, Begtrup A, Wentzensen IM, Walsh L, Payne K, Zarate YA, Bosanko K, Schaefer GB, DeBrosse S, Pollack L, Mason K, Retterer K, DeWard S, Juusola J, Chung WK. Vivero M, et al. Among authors: schaefer gb. Clin Genet. 2017 Jun;91(6):929-931. doi: 10.1111/cge.12899. Epub 2017 Jan 30. Clin Genet. 2017. PMID: 28133733 No abstract available.
172 results