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Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy.
Fry AE, Rees E, Thompson R, Mantripragada K, Blake P, Jones G, Morgan S, Jose S, Mugalaasi H, Archer H, McCann E, Clarke A, Taylor C, Davies S, Gibbon F, Te Water Naude J, Hartley L, Thomas G, White C, Natarajan J, Thomas RH, Drew C, Chung SK, Rees MI, Holmans P, Owen MJ, Kirov G, Pilz DT, Kerr MP. Fry AE, et al. Among authors: jose s. BMC Med Genet. 2016 Apr 26;17(1):34. doi: 10.1186/s12881-016-0294-2. BMC Med Genet. 2016. PMID: 27113213 Free PMC article.
Burden and Profile of Somatic Mutation in Duodenal Adenomas from Patients with Familial Adenomatous- and MUTYH-associated Polyposis.
Thomas LE, Hurley JJ, Meuser E, Jose S, Ashelford KE, Mort M, Idziaszczyk S, Maynard J, Brito HL, Harry M, Walters A, Raja M, Walton SJ, Dolwani S, Williams GT, Morgan M, Moorghen M, Clark SK, Sampson JR. Thomas LE, et al. Among authors: jose s. Clin Cancer Res. 2017 Nov 1;23(21):6721-6732. doi: 10.1158/1078-0432.CCR-17-1269. Epub 2017 Aug 8. Clin Cancer Res. 2017. PMID: 28790112
Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study.
Iacovazzo D, Caswell R, Bunce B, Jose S, Yuan B, Hernández-Ramírez LC, Kapur S, Caimari F, Evanson J, Ferraù F, Dang MN, Gabrovska P, Larkin SJ, Ansorge O, Rodd C, Vance ML, Ramírez-Renteria C, Mercado M, Goldstone AP, Buchfelder M, Burren CP, Gurlek A, Dutta P, Choong CS, Cheetham T, Trivellin G, Stratakis CA, Lopes MB, Grossman AB, Trouillas J, Lupski JR, Ellard S, Sampson JR, Roncaroli F, Korbonits M. Iacovazzo D, et al. Among authors: jose s. Acta Neuropathol Commun. 2016 Jun 1;4(1):56. doi: 10.1186/s40478-016-0328-1. Acta Neuropathol Commun. 2016. PMID: 27245663 Free PMC article.
Somatic GPR101 Duplication Causing X-Linked Acrogigantism (XLAG)-Diagnosis and Management.
Rodd C, Millette M, Iacovazzo D, Stiles CE, Barry S, Evanson J, Albrecht S, Caswell R, Bunce B, Jose S, Trouillas J, Roncaroli F, Sampson J, Ellard S, Korbonits M. Rodd C, et al. Among authors: jose s. J Clin Endocrinol Metab. 2016 May;101(5):1927-30. doi: 10.1210/jc.2015-4366. Epub 2016 Mar 16. J Clin Endocrinol Metab. 2016. PMID: 26982009 Free PMC article.
The human and non-human primate developmental GTEx projects.
Coorens THH, Guillaumet-Adkins A, Kovner R, Linn RL, Roberts VHJ, Sule A, Van Hoose PM; dGTEx Consortium. Coorens THH, et al. Nature. 2025 Jan;637(8046):557-564. doi: 10.1038/s41586-024-08244-9. Epub 2025 Jan 15. Nature. 2025. PMID: 39815096 Review.
Biphasic Cuirass Ventilation for Airway Surgeries: A Comprehensive Review.
Bodhey A, Bodhey M, Shallik NA, Al Nadhari M, Griess HF, Al Ani O, Sainuddin S, Thomas KP, ElHanfi O, Jose S, Nair A. Bodhey A, et al. Among authors: jose s. Cureus. 2024 Dec 10;16(12):e75477. doi: 10.7759/cureus.75477. eCollection 2024 Dec. Cureus. 2024. PMID: 39791051 Free PMC article. Review.
520 results