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Year | Number of Results |
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2020 | 2 |
2021 | 2 |
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2024 | 1 |
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Page 1
GNAQ/GNA11 Mosaicism Is Associated with Abnormal Serum Calcium Indices and Microvascular Neurocalcification.
J Invest Dermatol. 2024 Apr;144(4):820-832.e9. doi: 10.1016/j.jid.2023.09.008. Epub 2023 Oct 4.
J Invest Dermatol. 2024.
PMID: 37802294
Free article.
Late diagnoses of Dravet syndrome: How many individuals are we missing?
Silvennoinen K, Puvirajasinghe C, Hudgell K, Sidhu MK, Martins Custodio H; Genomics England Research Consortium; Jones WD, Balestrini S, Sisodiya SM.
Silvennoinen K, et al. Among authors: puvirajasinghe c.
Epilepsia Open. 2021 Dec;6(4):770-776. doi: 10.1002/epi4.12525. Epub 2021 Aug 5.
Epilepsia Open. 2021.
PMID: 34268891
Free PMC article.
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Real-life survey of pitfalls and successes of precision medicine in genetic epilepsies.
Balestrini S, Chiarello D, Gogou M, Silvennoinen K, Puvirajasinghe C, Jones WD, Reif P, Klein KM, Rosenow F, Weber YG, Lerche H, Schubert-Bast S, Borggraefe I, Coppola A, Troisi S, Møller RS, Riva A, Striano P, Zara F, Hemingway C, Marini C, Rosati A, Mei D, Montomoli M, Guerrini R, Cross JH, Sisodiya SM.
Balestrini S, et al. Among authors: puvirajasinghe c.
J Neurol Neurosurg Psychiatry. 2021 Oct;92(10):1044-1052. doi: 10.1136/jnnp-2020-325932. Epub 2021 Apr 26.
J Neurol Neurosurg Psychiatry. 2021.
PMID: 33903184
Free PMC article.
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Congenital hyperinsulinism due to compound heterozygous mutations in ABCC8 responsive to diazoxide therapy.
Taylor-Miller T, Houghton J, Munyard P, Kumar Y, Puvirajasinghe C, Giri D.
Taylor-Miller T, et al. Among authors: puvirajasinghe c.
J Pediatr Endocrinol Metab. 2020 May 26;33(5):671-674. doi: 10.1515/jpem-2019-0457.
J Pediatr Endocrinol Metab. 2020.
PMID: 32267248
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Moyamoya and progressive myoclonic epilepsy secondary to CLN6 bi-allelic mutations - A previously unreported association.
Talbot J, Singh P, Puvirajasinghe C; Genomics England Research Consortiumgecip-help@genomicsengland.co.uk; Sisodiya SM, Rugg-Gunn F.
Talbot J, et al. Among authors: puvirajasinghe c.
Epilepsy Behav Rep. 2020 Aug 31;14:100389. doi: 10.1016/j.ebr.2020.100389. eCollection 2020.
Epilepsy Behav Rep. 2020.
PMID: 33024953
Free PMC article.
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