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Page 1
Showing results for lauffer m
Search for Kauffer M instead (1 results)
Consensus guidelines for assessing eligibility of pathogenic DNA variants for antisense oligonucleotide treatments.
Cheerie D, Meserve MM, Beijer D, Kaiwar C, Newton L, Taylor Tavares AL, Verran AS, Sherrill E, Leonard S, Sanders SJ, Blake E, Elkhateeb N, Gandhi A, Liang NSY, Morgan JT, Verwillow A, Verheijen J, Giles A, Williams S, Chopra M, Croft L, Dafsari HS, Davidson AE, Friedman J, Gregor A, Haque B, Lechner R, Montgomery KA, Ryten M, Schober E, Siegel G, Sullivan PJ, Whittle EF, Zardetto B, Yu TW, Synofzik M, Aartsma-Rus A, Costain G, Lauffer MC; N=1 Collaborative. Cheerie D, et al. Among authors: lauffer mc. Am J Hum Genet. 2025 May 1;112(5):975-983. doi: 10.1016/j.ajhg.2025.02.017. Epub 2025 Mar 25. Am J Hum Genet. 2025. PMID: 40139194 Free PMC article. Review.
SPNS1 variants cause multiorgan disease and implicate lysophospholipid transport as critical for mTOR-regulated lipid homeostasis.
He M, Ding M, Chocholouskova M, Chin CF, Engvall M, Malmgren H, Wagner M, Lauffer MC, Heisinger J, Malicdan MCV, Allamand V, Durbeej M, Delgado Vega A, Sejersen T, Nordgren A, Torta F, Silver DL. He M, et al. Among authors: lauffer mc. J Clin Invest. 2025 Jul 3;135(17):e193099. doi: 10.1172/JCI193099. eCollection 2025 Sep 2. J Clin Invest. 2025. PMID: 40608416 Free PMC article.
Frederik B. Bang.
Lauffer MA, Maramorosch K. Lauffer MA, et al. Adv Virus Res. 1982;27:xii-xiv. doi: 10.1016/s0065-3527(08)60431-5. Adv Virus Res. 1982. PMID: 6756092 No abstract available.
Entropy-driven processes in biology.
Lauffer MA. Lauffer MA. Mol Biol Biochem Biophys. 1975;(20):1-264. doi: 10.1007/978-3-642-80869-2. Mol Biol Biochem Biophys. 1975. PMID: 785232 Review. No abstract available.
Screening rare genetic diagnoses for amenability to bespoke antisense oligonucleotide therapy development: A retrospective cohort study.
Cheerie D, Lauffer MC, Newton L, Amburgey K, Beijer D, Haque B, Kalish BT, Meserve MM, Oh RY, Pan AY, Reuter MS, Szego MJ, Szuto A; N=1 Collaborative; Aartsma-Rus A, Axford MM, Deshwar AR, Dowling JJ, Marshall CR, Ivakine Z, Synofzik M, Yu TW, Costain G. Cheerie D, et al. Among authors: lauffer mc. Genet Med. 2025 Oct 11;28(1):101597. doi: 10.1016/j.gim.2025.101597. Online ahead of print. Genet Med. 2025. PMID: 41090344
140 results