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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2020 | 2 |
2021 | 2 |
2024 | 1 |
Search Results
5 results
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Page 1
LARS2-Perrault syndrome: a new case report and literature review.
BMC Med Genet. 2020 May 18;21(1):109. doi: 10.1186/s12881-020-01028-8.
BMC Med Genet. 2020.
PMID: 32423379
Free PMC article.
Review.
Molecular characterization of pathogenic OTOA gene conversions in hearing loss patients.
Laurent S, Gehrig C, Nouspikel T, Amr SS, Oza A, Murphy E, Vannier A, Béna FS, Carminho-Rodrigues MT, Blouin JL, Cao Van H, Abramowicz M, Paoloni-Giacobino A, Guipponi M.
Laurent S, et al. Among authors: carminho rodrigues mt.
Hum Mutat. 2021 Apr;42(4):373-377. doi: 10.1002/humu.24167. Epub 2021 Mar 14.
Hum Mutat. 2021.
PMID: 33492714
Free PMC article.
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Complex movement disorder in a patient with heterozygous YY1 mutation (Gabriele-de Vries syndrome).
Carminho-Rodrigues MT, Steel D, Sousa SB, Brandt G, Guipponi M, Laurent S, Fokstuen S, Moren A, Zacharia A, Dirren E, Oliveira R, Kurian MA, Burkhard PR, Bally JF.
Carminho-Rodrigues MT, et al.
Am J Med Genet A. 2020 Sep;182(9):2129-2132. doi: 10.1002/ajmg.a.61731. Epub 2020 Jul 6.
Am J Med Genet A. 2020.
PMID: 32627382
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YY1 mutations disrupt corticogenesis through a cell-type specific rewiring of cell-autonomous and non-cell-autonomous transcriptional programs.
Pereira MF, Finazzi V, Rizzuti L, Aprile D, Aiello V, Mollica L, Riva M, Soriani C, Dossena F, Shyti R, Castaldi D, Tenderini E, Carminho-Rodrigues MT, Bally JF, de Vries BBA, Gabriele M, Vitriolo A, Testa G.
Pereira MF, et al. Among authors: carminho rodrigues mt.
bioRxiv [Preprint]. 2024 Feb 17:2024.02.16.580337. doi: 10.1101/2024.02.16.580337.
bioRxiv. 2024.
PMID: 38405909
Free PMC article.
Preprint.
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Benefits of Exome Sequencing in Children with Suspected Isolated Hearing Loss.
Van Heurck R, Carminho-Rodrigues MT, Ranza E, Stafuzza C, Quteineh L, Gehrig C, Hammar E, Guipponi M, Abramowicz M, Senn P, Guinand N, Cao-Van H, Paoloni-Giacobino A.
Van Heurck R, et al. Among authors: carminho rodrigues mt.
Genes (Basel). 2021 Aug 20;12(8):1277. doi: 10.3390/genes12081277.
Genes (Basel). 2021.
PMID: 34440452
Free PMC article.
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