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DMD-related muscular dystrophy in Cameroon: Clinical and genetic profiles.
Wonkam-Tingang E, Nguefack S, Esterhuizen AI, Chelo D, Wonkam A. Wonkam-Tingang E, et al. Among authors: esterhuizen ai. Mol Genet Genomic Med. 2020 Aug;8(8):e1362. doi: 10.1002/mgg3.1362. Epub 2020 Jun 15. Mol Genet Genomic Med. 2020. PMID: 32543101 Free PMC article.
Precision medicine for developmental and epileptic encephalopathies in Africa-strategies for a resource-limited setting.
Esterhuizen AI, Tiffin N, Riordan G, Wessels M, Burman RJ, Aziz MC, Calhoun JD, Gunti J, Amiri EE, Ramamurthy A, Bamshad MJ; University of Washington Centre for Mendelian Genomics (UW-CMG); Mefford HC, Ramesar R, Wilmshurst JM, Carvill GL. Esterhuizen AI, et al. Genet Med. 2023 Feb;25(2):100333. doi: 10.1016/j.gim.2022.11.002. Epub 2022 Dec 8. Genet Med. 2023. PMID: 36480001 Free article.
Noonan Syndrome in South Africa: Clinical and Molecular Profiles.
Tekendo-Ngongang C, Agenbag G, Bope CD, Esterhuizen AI, Wonkam A. Tekendo-Ngongang C, et al. Among authors: esterhuizen ai. Front Genet. 2019 Apr 16;10:333. doi: 10.3389/fgene.2019.00333. eCollection 2019. Front Genet. 2019. PMID: 31057598 Free PMC article.
Clinical Application of Epilepsy Genetics in Africa: Is Now the Time?
Esterhuizen AI, Carvill GL, Ramesar RS, Kariuki SM, Newton CR, Poduri A, Wilmshurst JM. Esterhuizen AI, et al. Front Neurol. 2018 May 2;9:276. doi: 10.3389/fneur.2018.00276. eCollection 2018. Front Neurol. 2018. PMID: 29770117 Free PMC article.
Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase.
Jones AG, Aquilino M, Tinker RJ, Duncan L, Jenkins Z, Carvill GL, DeWard SJ, Grange DK, Hajianpour MJ, Halliday BJ, Holder-Espinasse M, Horvath J, Maitz S, Nigro V, Morleo M, Paul V, Spencer C, Esterhuizen AI, Polster T, Spano A, Gómez-Lozano I, Kumar A, Poke G, Phillips JA 3rd, Underhill HR, Gimenez G, Namba T, Robertson SP. Jones AG, et al. Among authors: esterhuizen ai. Am J Hum Genet. 2024 Apr 4;111(4):729-741. doi: 10.1016/j.ajhg.2024.03.005. Am J Hum Genet. 2024. PMID: 38579670
11 results