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A truncating mutation in SERPINB6 is associated with autosomal-recessive nonsyndromic sensorineural hearing loss.
Sirmaci A, Erbek S, Price J, Huang M, Duman D, Cengiz FB, Bademci G, Tokgöz-Yilmaz S, Hişmi B, Ozdağ H, Oztürk B, Kulaksizoğlu S, Yildirim E, Kokotas H, Grigoriadou M, Petersen MB, Shahin H, Kanaan M, King MC, Chen ZY, Blanton SH, Liu XZ, Zuchner S, Akar N, Tekin M. Sirmaci A, et al. Among authors: price j. Am J Hum Genet. 2010 May 14;86(5):797-804. doi: 10.1016/j.ajhg.2010.04.004. Epub 2010 May 6. Am J Hum Genet. 2010. PMID: 20451170 Free PMC article.
Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia.
McCorquodale DS 3rd, Ozomaro U, Huang J, Montenegro G, Kushman A, Citrigno L, Price J, Speziani F, Pericak-Vance MA, Züchner S. McCorquodale DS 3rd, et al. Among authors: price j. Clin Genet. 2011 Jun;79(6):523-30. doi: 10.1111/j.1399-0004.2010.01501.x. Clin Genet. 2011. PMID: 20718791 Free PMC article.
Mutation screening of mitofusin 2 in Charcot-Marie-Tooth disease type 2.
McCorquodale DS 3rd, Montenegro G, Peguero A, Carlson N, Speziani F, Price J, Taylor SW, Melanson M, Vance JM, Züchner S. McCorquodale DS 3rd, et al. Among authors: price j. J Neurol. 2011 Jul;258(7):1234-9. doi: 10.1007/s00415-011-5910-7. Epub 2011 Jan 22. J Neurol. 2011. PMID: 21258814 Free PMC article.
Vitamin D receptor and Alzheimer's disease: a genetic and functional study.
Wang L, Hara K, Van Baaren JM, Price JC, Beecham GW, Gallins PJ, Whitehead PL, Wang G, Lu C, Slifer MA, Züchner S, Martin ER, Mash D, Haines JL, Pericak-Vance MA, Gilbert JR. Wang L, et al. Among authors: price jc. Neurobiol Aging. 2012 Aug;33(8):1844.e1-9. doi: 10.1016/j.neurobiolaging.2011.12.038. Epub 2012 Feb 4. Neurobiol Aging. 2012. PMID: 22306846
Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12.
Montenegro G, Rebelo AP, Connell J, Allison R, Babalini C, D'Aloia M, Montieri P, Schüle R, Ishiura H, Price J, Strickland A, Gonzalez MA, Baumbach-Reardon L, Deconinck T, Huang J, Bernardi G, Vance JM, Rogers MT, Tsuji S, De Jonghe P, Pericak-Vance MA, Schöls L, Orlacchio A, Reid E, Züchner S. Montenegro G, et al. Among authors: price j. J Clin Invest. 2012 Feb;122(2):538-44. doi: 10.1172/JCI60560. Epub 2012 Jan 9. J Clin Invest. 2012. PMID: 22232211 Free PMC article.
In vivo electroporation and non-protein based screening assays to identify antibodies against native protein conformations.
Daftarian P, Chowdhury R, Ames P, Wei C, King AD, de Rivero Vaccari JP, Dillon L, Price J, Leung H, Ashlock B, Mesri E, Perez V, Züchner S, Reiser J, Lemmon V, Keane RW. Daftarian P, et al. Among authors: price j. Hybridoma (Larchmt). 2011 Oct;30(5):409-18. doi: 10.1089/hyb.2010.0120. Hybridoma (Larchmt). 2011. PMID: 22008067 Free PMC article.
IMA Genome - F19 : A genome assembly and annotation guide to empower mycologists, including annotated draft genome sequences of Ceratocystis pirilliformis, Diaporthe australafricana, Fusarium ophioides, Paecilomyces lecythidis, and Sporothrix stenoceras.
Aylward J, Wilson AM, Visagie CM, Spraker J, Barnes I, Buitendag C, Ceriani C, Del Mar Angel L, du Plessis D, Fuchs T, Gasser K, Krämer D, Li W, Munsamy K, Piso A, Price JL, Sonnekus B, Thomas C, van der Nest A, van Dijk A, van Heerden A, van Vuuren N, Yilmaz N, Duong TA, van der Merwe NA, Wingfield MJ, Wingfield BD. Aylward J, et al. Among authors: price jl. IMA Fungus. 2024 Jun 3;15(1):12. doi: 10.1186/s43008-024-00142-z. IMA Fungus. 2024. PMID: 38831329 Free PMC article.
5,029 results