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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2016 8
2017 3
2018 8
2019 4
2020 5
2021 5
2022 5
2023 7
2024 3

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42 results

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Page 1
Loss of TBC1D2B causes a progressive neurological disorder with gingival overgrowth.
Harms FL, Rexach JE, Efthymiou S, Aynekin B, Per H, Güleç A, Nampoothiri S, Sampaio H, Sachdev R, Stoeva R, Myers K, Pena LDM, Kalfa TA, Chard M, Klassen M, Pries M, Kutsche K. Harms FL, et al. Among authors: sampaio h. Eur J Hum Genet. 2024 May;32(5):558-566. doi: 10.1038/s41431-024-01563-5. Epub 2024 Feb 19. Eur J Hum Genet. 2024. PMID: 38374468 Free PMC article.
DHDDS and NUS1: A Converging Pathway and Common Phenotype.
Williams LJ, Waller S, Qiu J, Innes E, Elserafy N, Procopis P, Sampaio H, Mahant N, Tchan MC, Mohammad SS, Morales-Briceño H, Fung VSC. Williams LJ, et al. Among authors: sampaio h. Mov Disord Clin Pract. 2024 Jan;11(1):76-85. doi: 10.1002/mdc3.13920. Epub 2023 Nov 28. Mov Disord Clin Pract. 2024. PMID: 38291835 Review.
Diagnosis and management of children with McArdle Syndrome (GSD V) in New South Wales.
Adams L, Selvanathan A, Batten KJ, van Doorn N, Thompson S, Mitchell A, Sampaio H, Dalkeith T, Russell J, Ellaway CJ, Farrar M, Broderick C, Bhattacharya K. Adams L, et al. Among authors: sampaio h. JIMD Rep. 2023 Aug 9;64(5):327-336. doi: 10.1002/jmd2.12389. eCollection 2023 Sep. JIMD Rep. 2023. PMID: 37701325 Free PMC article.
CSF neopterin, quinolinic acid and kynurenine/tryptophan ratio are biomarkers of active neuroinflammation.
Yan J, Kothur K, Mohammad S, Chung J, Patel S, Jones HF, Keating BA, Han VX, Webster R, Ardern-Holmes S, Antony J, Menezes MP, Tantsis E, Gill D, Gupta S, Kandula T, Sampaio H, Farrar MA, Troedson C, Andrews PI, Pillai SC, Heng B, Guillemin GJ, Guller A, Bandodkar S, Dale RC. Yan J, et al. Among authors: sampaio h. EBioMedicine. 2023 May;91:104589. doi: 10.1016/j.ebiom.2023.104589. Epub 2023 Apr 27. EBioMedicine. 2023. PMID: 37119734 Free PMC article.
It Takes Two to Tango, Part II: Synthesis of A-Ring Functionalised Quinones Containing Two Redox-Active Centres with Antitumour Activities.
Oliveira JC, de Carvalho RL, Sampaio HGS, Honorato J, Ellena JA, Martins FT, Pereira JVM, Costa PMS, Pessoa C, Ferreira RS, Araújo MH, Jacob C, da Silva Júnior EN. Oliveira JC, et al. Among authors: sampaio hgs. Molecules. 2023 Feb 27;28(5):2222. doi: 10.3390/molecules28052222. Molecules. 2023. PMID: 36903471 Free PMC article.
Urgent computed tomography angiography in paediatric stroke.
Briest RC, Cheung AK, Kandula T, Cardamone M, Pillai SC, Sampaio H, Teoh HL, Webster RI, Wenderoth JD, Andrews PI. Briest RC, et al. Among authors: sampaio h. Dev Med Child Neurol. 2023 Jan;65(1):126-135. doi: 10.1111/dmcn.15285. Epub 2022 Jun 5. Dev Med Child Neurol. 2023. PMID: 35661998 Free PMC article.
42 results