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SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation.
Nashabat M, Nabavizadeh N, Saraçoğlu HP, Sarıbaş B, Avcı Ş, Börklü E, Beillard E, Yılmaz E, Uygur SE, Kayhan CK, Bosco L, Eren ZB, Steindl K, Richter MF, Bademci G, Rauch A, Fattahi Z, Valentino ML, Connolly AM, Bahr A, Viola L, Bergmann AK, Rocha ME, Peart L, Castro-Rojas DL, Bültmann E, Khan S, Giarrana ML, Teleanu RI, Gonzalez JM, Pini A, Schädlich IS, Vill K, Brugger M, Zuchner S, Pinto A, Donkervoort S, Bivona SA, Riza A; Undiagnosed Diseases Network; Streata I, Gläser D, Baquero-Montoya C, Garcia-Restrepo N, Kotzaeridou U, Brunet T, Epure DA, Bertoli-Avella A, Kariminejad A, Tekin M, von Hardenberg S, Bönnemann CG, Stettner GM, Zanni G, Kayserili H, Oflazer ZP, Escande-Beillard N. Nashabat M, et al. Among authors: gonzalez jm. Nat Commun. 2024 Feb 27;15(1):1758. doi: 10.1038/s41467-024-45933-5. Nat Commun. 2024. PMID: 38413582 Free PMC article.
Caught in Traffic: Clot in Transit.
Gonzalez JM, Lowenhaar G, Chalasani P. Gonzalez JM, et al. R I Med J (2013). 2024 Jun 3;107(6):10-11. R I Med J (2013). 2024. PMID: 38810007 Free article. No abstract available.
Prognostic Value of Pre-Operative Intragastric Meal Distribution in Gastric Emptying Scintigraphy for Long-Term Success of Gastric Peroral Endoscopic Myotomy in Gastroparesis.
Debourdeau A, Vitton V, Gonzalez S, Collet H, Al Tabaa Y, Barthet M, Gonzalez JM. Debourdeau A, et al. Among authors: gonzalez jm. Gastrointest Endosc. 2024 May 16:S0016-5107(24)03207-3. doi: 10.1016/j.gie.2024.05.011. Online ahead of print. Gastrointest Endosc. 2024. PMID: 38762040
Quantifying microbial guilds.
Rivas-Santisteban J, Yubero P, Robaina-Estévez S, González JM, Tamames J, Pedrós-Alió C. Rivas-Santisteban J, et al. Among authors: gonzalez jm. ISME Commun. 2024 Mar 27;4(1):ycae042. doi: 10.1093/ismeco/ycae042. eCollection 2024 Jan. ISME Commun. 2024. PMID: 38707845 Free PMC article.
National Beef Quality Audit-2022: Transportation, mobility, live cattle, and hide assessments to determine producer-related defects that affect animal welfare and the value of market cows and bulls at processing facilities.
Borders SE, Schwartz TE, Mayer TR, Gehring KB, Griffin DB, Kerth CR, Belk KE, Edwards-Callaway L, Scanga JA, Nair MN, Morgan JB, Douglas JB, Pfeiffer MM, Mafi GG, Harr KM, Lawrence TE, Tennant TC, Lucherk LW, O'Quinn TG, Beyer ES, Bass PD, Garcia LG, Bohrer BM, Pempek JA, Garmyn AJ, Maddock RJ, Carr CC, Pringle TD, Scheffler TL, Scheffler JM, Stelzleni AM, Gonzalez JM, Underwood KR, Harsh BN, Waters CM, Savell JW. Borders SE, et al. Among authors: gonzalez jm. Transl Anim Sci. 2024 Mar 11;8:txae033. doi: 10.1093/tas/txae033. eCollection 2024. Transl Anim Sci. 2024. PMID: 38616995 Free PMC article.
1,127 results