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Year | Number of Results |
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2023 | 1 |
2024 | 3 |
2025 | 0 |
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Optical genome mapping unveils hidden structural variants in neurodevelopmental disorders.
Sci Rep. 2024 May 16;14(1):11239. doi: 10.1038/s41598-024-62009-y.
Sci Rep. 2024.
PMID: 38755281
Free PMC article.
A novel variant in CYFIP2 in a girl with severe disabilities and bilateral perisylvian polymicrogyria.
Salokivi T, Parkkola R, Rajendran Y, Bharadwaj T, Acharya A, Leal SM, Järvelä I, Arvio M, Schrauwen I.
Salokivi T, et al.
Am J Med Genet A. 2024 Apr;194(4):e63478. doi: 10.1002/ajmg.a.63478. Epub 2023 Nov 17.
Am J Med Genet A. 2024.
PMID: 37975178
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Heterogeneous genetic patterns in bilateral perisylvian polymicrogyria: insights from a Finnish family cohort.
Järvelä I, Paetau R, Rajendran Y, Acharya A, Bharadwaj T, Leal SM, Lehesjoki AE, Palomäki M, Schrauwen I.
Järvelä I, et al.
Brain Commun. 2024 Apr 18;6(3):fcae142. doi: 10.1093/braincomms/fcae142. eCollection 2024.
Brain Commun. 2024.
PMID: 38712318
Free PMC article.
Review.
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