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681 results

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Page 1
MAGEL2-related disorders: A study and case series.
Patak J, Gilfert J, Byler M, Neerukonda V, Thiffault I, Cross L, Amudhavalli S, Pacio-Miguez M, Palomares-Bralo M, Garcia-Minaur S, Santos-Simarro F, Powis Z, Alcaraz W, Tang S, Jurgens J, Barry B, England E, Engle E, Hess J, Lebel RR. Patak J, et al. Among authors: barry b. Clin Genet. 2019 Dec;96(6):493-505. doi: 10.1111/cge.13620. Epub 2019 Aug 22. Clin Genet. 2019. PMID: 31397880 Free PMC article.
Congenital monocular elevation deficiency associated with a novel TUBB3 gene variant.
Thomas MG, Maconachie GDE, Constantinescu CS, Chan WM, Barry B, Hisaund M, Sheth V, Kuht HJ, Dineen RA, Harieaswar S, Engle EC, Gottlob I. Thomas MG, et al. Among authors: barry b. Br J Ophthalmol. 2020 Apr;104(4):547-550. doi: 10.1136/bjophthalmol-2019-314293. Epub 2019 Jul 13. Br J Ophthalmol. 2020. PMID: 31302631 Free PMC article.
Impact of facial nerve resection in parotid cancer abutting the facial nerve without preoperative paralysis: A multicentric propensity score-based analysis.
Chatelet F, Chevret S, Fakhry N, Even C, Malard O, de Monès E, Saroul N, Mouawad F, de Boutray M, Mauvais O, Vergez S, Evrard D, Righini C, Schultz P, Baudouin R, Poissonnet G, Atallah S, Haroun F, Morinière S, Evrard C, Philouze P, Paasche A, Lesnik M, Lelonge Y, Herman P, Verillaud B; REFCOR members. Chatelet F, et al. Eur J Surg Oncol. 2024 Oct 10:108746. doi: 10.1016/j.ejso.2024.108746. Online ahead of print. Eur J Surg Oncol. 2024. PMID: 39424524 Free article.
Using spaceborne LiDAR to reveal drivers of animal demography.
Barry BR, Holbrook JD, Vogeler JC, Elliott LH, Weldy MJ, Lesmeister DB, Epps C, Wilson T, Vierling KT. Barry BR, et al. Ecol Appl. 2024 Dec;34(8):e3048. doi: 10.1002/eap.3048. Epub 2024 Oct 15. Ecol Appl. 2024. PMID: 39407356
Pharmacogenomic augmented machine learning in electronic health record alerts: A health system-wide usability survey of clinicians.
Grant CW, Marrero-Polanco J, Joyce JB, Barry B, Stillwell A, Kruger K, Anderson T, Talley H, Hedges M, Valery J, White R, Sharp RR, Croarkin PE, Dyrbye LN, Bobo WV, Athreya AP. Grant CW, et al. Among authors: barry b. Clin Transl Sci. 2024 Oct;17(10):e70044. doi: 10.1111/cts.70044. Clin Transl Sci. 2024. PMID: 39402925 Free PMC article.
A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders.
Lee AS, Ayers LJ, Kosicki M, Chan WM, Fozo LN, Pratt BM, Collins TE, Zhao B, Rose MF, Sanchis-Juan A, Fu JM, Wong I, Zhao X, Tenney AP, Lee C, Laricchia KM, Barry BJ, Bradford VR, Jurgens JA, England EM, Lek M, MacArthur DG, Lee EA, Talkowski ME, Brand H, Pennacchio LA, Engle EC. Lee AS, et al. Among authors: barry bj. Nat Commun. 2024 Sep 27;15(1):8268. doi: 10.1038/s41467-024-52463-7. Nat Commun. 2024. PMID: 39333082 Free PMC article.
681 results