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TBCK syndrome: a rare multi-organ neurodegenerative disease.
Trends Mol Med. 2023 Oct;29(10):783-785. doi: 10.1016/j.molmed.2023.06.009. Epub 2023 Jul 14.
Trends Mol Med. 2023.
PMID: 37455236
Free PMC article.
An interactive atlas of three-dimensional syndromic facial morphology.
Aponte JD, Bannister JJ, Hoskens H, Matthews H, Katsura K, Da Silva C, Cruz T, Pilz JHM, Spritz RA, Forkert ND, Claes P, Bernier FP, Klein OD, Katz DC, Hallgrímsson B.
Aponte JD, et al.
Am J Hum Genet. 2024 Jan 4;111(1):39-47. doi: 10.1016/j.ajhg.2023.11.011.
Am J Hum Genet. 2024.
PMID: 38181734
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Refining nosology by modelling variation among facial phenotypes: the RASopathies.
Matthews H, Vanneste M, Katsura K, Aponte D, Patton M, Hammond P, Baynam G, Spritz R, Klein OD, Hallgrimsson B, Peeters H, Claes P.
Matthews H, et al.
J Med Genet. 2022 Jul 20:jmedgenet-2021-108366. doi: 10.1136/jmedgenet-2021-108366. Online ahead of print.
J Med Genet. 2022.
PMID: 35858754
Free PMC article.
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WDR72 models of structure and function: a stage-specific regulator of enamel mineralization.
Katsura KA, Horst JA, Chandra D, Le TQ, Nakano Y, Zhang Y, Horst OV, Zhu L, Le MH, DenBesten PK.
Katsura KA, et al.
Matrix Biol. 2014 Sep;38:48-58. doi: 10.1016/j.matbio.2014.06.005. Epub 2014 Jul 4.
Matrix Biol. 2014.
PMID: 25008349
Free PMC article.
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