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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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2018 | 3 |
2019 | 1 |
2020 | 1 |
2022 | 1 |
2023 | 1 |
2024 | 1 |
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Page 1
DMD-related muscular dystrophy in Cameroon: Clinical and genetic profiles.
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.
Dravet syndrome in South African infants: Tools for an early diagnosis.
Esterhuizen AI, Mefford HC, Ramesar RS, Wang S, Carvill GL, Wilmshurst JM.
Esterhuizen AI, et al.
Seizure. 2018 Nov;62:99-105. doi: 10.1016/j.seizure.2018.09.010. Epub 2018 Sep 14.
Seizure. 2018.
PMID: 30321769
Free PMC article.
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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
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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.
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Skin cells for use in an alternate diagnostic method for Duchenne muscular dystrophy.
Tyers L, Davids LM, Wilmshurst JM, Esterhuizen AI.
Tyers L, et al. Among authors: esterhuizen ai.
Neuromuscul Disord. 2018 Jul;28(7):553-563. doi: 10.1016/j.nmd.2018.05.001. Epub 2018 May 10.
Neuromuscul Disord. 2018.
PMID: 29958823
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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.
Front Genet. 2019 Apr 16;10:333. doi: 10.3389/fgene.2019.00333. eCollection 2019.
Front Genet. 2019.
PMID: 31057598
Free PMC article.
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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.
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