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KIF21A-associated peripheral neuropathy defined by impaired binding with TUBB3.
Borja NA, Zafeer MF, Bivona S, Peart L, Gultekin SH; Undiagnosed Diseases Network; Bademci G, Tekin M; Undiagnosed Diseases Network NIH. Borja NA, et al. J Med Genet. 2024 Dec 11:jmg-2024-109908. doi: 10.1136/jmg-2024-109908. Online ahead of print. J Med Genet. 2024. PMID: 39643435
Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network Study.
Tan QK, McConkie-Rosell A, Mahoney R, Spillmann RC, Schoch K, Chanprasert S, Acosta MT, Toro C, Rosenfeld JA, Orengo JP, Scott DA, Granadillo JL, Sisco K, Wegner DJ, Tekin M, Bivona S, Peart L, Rodan L, Bonner D, Wheeler MT, Bernstein JA, Ruzhnikov M; Undiagnosed Diseases Network; Adams DR, Hisama FM, Shashi V. Tan QK, et al. Am J Med Genet A. 2024 Dec 4:e63956. doi: 10.1002/ajmg.a.63956. Online ahead of print. Am J Med Genet A. 2024. PMID: 39629753
Gas Adsorption in Flexible COF-506 and COF-506-Cu.
Lassitter T, Hastings J, Neumann SE, Yaghi OM, Glover TG. Lassitter T, et al. Among authors: neumann se. Langmuir. 2024 Dec 3;40(48):25617-25630. doi: 10.1021/acs.langmuir.4c03534. Epub 2024 Nov 19. Langmuir. 2024. PMID: 39561087
Exploring animal enclosures and parasite interactions in Germany.
Sander C, Balkenhol N, Neumann S. Sander C, et al. Among authors: neumann s. Int J Parasitol Parasites Wildl. 2024 Oct 24;25:101009. doi: 10.1016/j.ijppaw.2024.101009. eCollection 2024 Dec. Int J Parasitol Parasites Wildl. 2024. PMID: 39526174 Free PMC article.
The Proteomics Standards Initiative Standardized Formats for Spectral Libraries and Fragment Ion Peak Annotations: mzSpecLib and mzPAF.
Klein J, Lam H, Mak TD, Bittremieux W, Perez-Riverol Y, Gabriels R, Shofstahl J, Hecht H, Binz PA, Kawano S, Van Den Bossche T, Carver J, Neely BA, Mendoza L, Suomi T, Claeys T, Payne T, Schulte D, Sun Z, Hoffmann N, Zhu Y, Neumann S, Jones AR, Bandeira N, Vizcaíno JA, Deutsch EW. Klein J, et al. Among authors: neumann s. Anal Chem. 2024 Nov 19;96(46):18491-18501. doi: 10.1021/acs.analchem.4c04091. Epub 2024 Nov 8. Anal Chem. 2024. PMID: 39514576 Free PMC article.
Review and metabolomic profiling of unsolved case reveals newly reported autosomal dominant congenital disorder of glycosylation, type Iw formerly thought to only be an autosomal recessive condition.
Ezell KM, Furuta Y, Oglesbee D, Pivnick EK, Rinker D, Sheehan JH, Tinker RJ, Hamid R, Cogan JD, Rives L, Neumann S, Corner B, Koziura M, Phillips JA 3rd; Undiagnosed Diseases Network. Ezell KM, et al. Among authors: neumann s. Mol Genet Metab Rep. 2024 Oct 5;41:101145. doi: 10.1016/j.ymgmr.2024.101145. eCollection 2024 Dec. Mol Genet Metab Rep. 2024. PMID: 39435313 Free PMC article.
788 results