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Year Number of Results
2016 3
2017 2
2018 1
2020 1
2021 1
2023 2
2024 5

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14 results

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Page 1
Implications of direct-to-consumer whole-exome sequencing in South Africa.
Lombard Z, Baine F, Krause A, Lochan A, Macualay S, Spencer C, Aldous C, De Vries J, Fieggen K, Henderson B, Hoal E, Kinnear C, Kinsley N, September A, Urban M, Soodyall H, Pepper M, Ramsay M. Lombard Z, et al. Among authors: spencer c. S Afr Med J. 2016 Jan 12;106(2):139-40. doi: 10.7196/SAMJ.2016.v106i2.10534. S Afr Med J. 2016. PMID: 26821891
Discordant monoamniotic twins with Pena-Shokeir phenotype.
Adam S, Lombaard H, Spencer C. Adam S, et al. Among authors: spencer c. Clin Case Rep. 2016 Aug 18;4(10):919-921. doi: 10.1002/ccr3.651. eCollection 2016 Oct. Clin Case Rep. 2016. PMID: 27761239 Free PMC article.
Gordon syndrome: Dental implications and a case report.
Roomaney IA, Walters J, Spencer C, Chetty M. Roomaney IA, et al. Among authors: spencer c. Spec Care Dentist. 2021 Nov;41(6):727-734. doi: 10.1111/scd.12615. Epub 2021 May 26. Spec Care Dentist. 2021. PMID: 34038001
SCN3A-Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain Malformation.
Zaman T, Helbig KL, Clatot J, Thompson CH, Kang SK, Stouffs K, Jansen AE, Verstraete L, Jacquinet A, Parrini E, Guerrini R, Fujiwara Y, Miyatake S, Ben-Zeev B, Bassan H, Reish O, Marom D, Hauser N, Vu TA, Ackermann S, Spencer CE, Lippa N, Srinivasan S, Charzewska A, Hoffman-Zacharska D, Fitzpatrick D, Harrison V, Vasudevan P, Joss S, Pilz DT, Fawcett KA, Helbig I, Matsumoto N, Kearney JA, Fry AE, Goldberg EM. Zaman T, et al. Among authors: spencer ce. Ann Neurol. 2020 Aug;88(2):348-362. doi: 10.1002/ana.25809. Epub 2020 Jul 9. Ann Neurol. 2020. PMID: 32515017 Free PMC article.
Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.
Acuna-Hidalgo R, Deriziotis P, Steehouwer M, Gilissen C, Graham SA, van Dam S, Hoover-Fong J, Telegrafi AB, Destree A, Smigiel R, Lambie LA, Kayserili H, Altunoglu U, Lapi E, Uzielli ML, Aracena M, Nur BG, Mihci E, Moreira LM, Borges Ferreira V, Horovitz DD, da Rocha KM, Jezela-Stanek A, Brooks AS, Reutter H, Cohen JS, Fatemi A, Smitka M, Grebe TA, Di Donato N, Deshpande C, Vandersteen A, Marques Lourenço C, Dufke A, Rossier E, Andre G, Baumer A, Spencer C, McGaughran J, Franke L, Veltman JA, De Vries BB, Schinzel A, Fisher SE, Hoischen A, van Bon BW. Acuna-Hidalgo R, et al. Among authors: spencer c. PLoS Genet. 2017 Mar 27;13(3):e1006683. doi: 10.1371/journal.pgen.1006683. eCollection 2017 Mar. PLoS Genet. 2017. PMID: 28346496 Free PMC article.
Clinical, biochemical, and genetic spectrum of MADD in a South African cohort: an ICGNMD study.
Bisschoff M, Smuts I, Dercksen M, Schoonen M, Vorster BC, van der Watt G, Spencer C, Naidu K, Henning F, Meldau S, McFarland R, Taylor RW, Patel K, Fassad MR, Vandrovcova J; ICGNMD Consortium; Wanders RJA, van der Westhuizen FH. Bisschoff M, et al. Among authors: spencer c. Orphanet J Rare Dis. 2024 Jan 14;19(1):15. doi: 10.1186/s13023-023-03014-8. Orphanet J Rare Dis. 2024. PMID: 38221620 Free PMC article.
14 results