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ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer.
Stankovic T, Kidd AM, Sutcliffe A, McGuire GM, Robinson P, Weber P, Bedenham T, Bradwell AR, Easton DF, Lennox GG, Haites N, Byrd PJ, Taylor AM. Stankovic T, et al. Among authors: robinson p. Am J Hum Genet. 1998 Feb;62(2):334-45. doi: 10.1086/301706. Am J Hum Genet. 1998. PMID: 9463314 Free PMC article.
Kinetic and expression analyses of seven novel mutations in mitochondrial acetoacetyl-CoA thiolase (T2): identification of a Km mutant and an analysis of the mutational sites in the structure.
Sakurai S, Fukao T, Haapalainen AM, Zhang G, Yamada K, Lilliu F, Yano S, Robinson P, Gibson MK, Wanders RJ, Mitchell GA, Wierenga RK, Kondo N. Sakurai S, et al. Among authors: robinson p. Mol Genet Metab. 2007 Apr;90(4):370-8. doi: 10.1016/j.ymgme.2006.12.002. Epub 2007 Jan 22. Mol Genet Metab. 2007. PMID: 17236799
Inborn errors of immunity: manifestation, treatment, and outcome - an ESID registry 1994-2024 report on 30,628 patients.
Kindle G, Alligon M, Albert MH, Buckland M, Edgar JD, Gathmann B, Ghosh S, Gkantaras A, Nieters A, Pignata C, Robinson P, Rusch S, Schuetz C, Sharapova S, Shillitoe B, Candotti F, Cant AJ, Casanova JL, Etzioni A, Fischer A, Meyts I, Notarangelo LD, Pergent M, Smith CIE; ESID Registry Working Party; Hammarström L, Grimbacher B, Seppänen M, Mahlaoui N, Ehl S, Seidel MG. Kindle G, et al. Among authors: robinson p. medRxiv [Preprint]. 2025 Apr 16:2025.02.20.25322586. doi: 10.1101/2025.02.20.25322586. medRxiv. 2025. PMID: 40568655 Free PMC article. Preprint.
4,547 results