Booke S[au] - Search Results

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Genetic counselors' attitudes toward and practice related to psychiatric genetic counseling.

Booke S, Austin J, Calderwood L, Campion M. Booke S, et al. J Genet Couns. 2020 Feb;29(1):25-34. doi: 10.1002/jgc4.1176. Epub 2019 Nov 7. J Genet Couns. 2020. PMID: 31701601

De novo variants in SIAH1, encoding an E3 ubiquitin ligase, are associated with developmental delay, hypotonia and dysmorphic features.

Buratti J, Ji L, Keren B, Lee Y, Booke S, Erdin S, Kim SY, Palculict TB, Meiner V, Chae JH, Woods CG, Tam A, Héron D, Cong F, Harel T. Buratti J, et al. Among authors: booke s. J Med Genet. 2021 Mar;58(3):205-212. doi: 10.1136/jmedgenet-2019-106335. Epub 2020 May 19. J Med Genet. 2021. PMID: 32430360

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