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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2020 | 1 |
2021 | 3 |
2022 | 1 |
2023 | 1 |
2024 | 0 |
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5 results
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Page 1
SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission.
Brain. 2023 Nov 2;146(11):4547-4561. doi: 10.1093/brain/awad235.
Brain. 2023.
PMID: 37459438
Free PMC article.
Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency.
Fasham J, Lin S, Ghosh P, Radio FC, Farrow EG, Thiffault I, Kussman J, Zhou D, Hemming R, Zahka K, Chioza BA, Rawlins LE, Wenger OK, Gunning AC, Pizzi S, Onesimo R, Zampino G, Barker E, Osawa N, Rodriguez MC, Neuhann TM, Zackai EH, Keena B, Capasso J, Levin AV, Bhoj E, Li D, Hakonarson H, Wentzensen IM, Jackson A, Chandler KE, Coban-Akdemir ZH, Posey JE, Banka S, Lupski JR, Sheppard SE, Tartaglia M, Triggs-Raine B, Crosby AH, Baple EL.
Fasham J, et al.
Genet Med. 2022 Mar;24(3):631-644. doi: 10.1016/j.gim.2021.10.014. Epub 2021 Nov 30.
Genet Med. 2022.
PMID: 34906488
Free PMC article.
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Final Exon Frameshift Biallelic PTPN23 Variants Are Associated with Microcephalic Complex Hereditary Spastic Paraplegia.
Khalaf-Nazzal R, Fasham J, Ubeyratna N, Evans DJ, Leslie JS, Warner TT, Al-Hijawi F, Alshaer S, Baker W, Turnpenny PD, Baple EL, Crosby AH.
Khalaf-Nazzal R, et al.
Brain Sci. 2021 May 11;11(5):614. doi: 10.3390/brainsci11050614.
Brain Sci. 2021.
PMID: 34064836
Free PMC article.
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Consolidating biallelic SDHD variants as a cause of mitochondrial complex II deficiency.
Lin S, Fasham J, Al-Hijawi F, Qutob N, Gunning A, Leslie JS, McGavin L, Ubeyratna N, Baker W, Zeid R, Turnpenny PD, Crosby AH, Baple EL, Khalaf-Nazzal R.
Lin S, et al.
Eur J Hum Genet. 2021 Oct;29(10):1570-1576. doi: 10.1038/s41431-021-00887-w. Epub 2021 May 20.
Eur J Hum Genet. 2021.
PMID: 34012134
Free PMC article.
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No association between SCN9A and monogenic human epilepsy disorders.
Fasham J, Leslie JS, Harrison JW, Deline J, Williams KB, Kuhl A, Scott Schwoerer J, Cross HE, Crosby AH, Baple EL.
Fasham J, et al.
PLoS Genet. 2020 Nov 20;16(11):e1009161. doi: 10.1371/journal.pgen.1009161. eCollection 2020 Nov.
PLoS Genet. 2020.
PMID: 33216760
Free PMC article.
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