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Page 1
Current practice in diagnostic genetic testing of the epilepsies.
Krey I, Platzer K, Esterhuizen A, Berkovic SF, Helbig I, Hildebrand MS, Lerche H, Lowenstein D, Møller RS, Poduri A, Sadleir L, Sisodiya SM, Weckhuysen S, Wilmshurst JM, Weber Y, Lemke JR, Berkovic SF, Cross JH, Helbig I, Lerche H, Lowenstein D, Mefford HC, Perucca P, Tan NC, Caglayan H, Helbig K, Singh G, Weber Y, Weckhuysen S. Krey I, et al. Among authors: esterhuizen a. Epileptic Disord. 2022 Oct 1;24(5):765-786. doi: 10.1684/epd.2022.1448. Epileptic Disord. 2022. PMID: 35830287 Free PMC article.
ILAE Genetics Literacy series: Progressive myoclonus epilepsies.
Cameron JM, Ellis CA, Berkovic SF; ILAE Genetics Commission; ILAE Genetic Literacy Task Force. Cameron JM, et al. Epileptic Disord. 2023 Oct;25(5):670-680. doi: 10.1002/epd2.20152. Epub 2023 Sep 6. Epileptic Disord. 2023. PMID: 37616028 Free PMC article. Review.
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.
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.
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.
15 results