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Genetic systems for mycobacteria.
Jacobs WR Jr, Kalpana GV, Cirillo JD, Pascopella L, Snapper SB, Udani RA, Jones W, Barletta RG, Bloom BR. Jacobs WR Jr, et al. Among authors: udani ra. Methods Enzymol. 1991;204:537-55. doi: 10.1016/0076-6879(91)04027-l. Methods Enzymol. 1991. PMID: 1658570 Review. No abstract available.
Variant Classification for Pompe disease; ACMG/AMP specifications from the ClinGen Lysosomal Diseases Variant Curation Expert Panel.
Goldstein JL, McGlaughon J, Kanavy D, Goomber S, Pan Y, Deml B, Donti T, Kearns L, Seifert BA, Schachter M, Son RG, Thaxton C, Udani R, Bali D, Baudet H, Caggana M, Hung C, Kyriakopoulou L, Rosenblum L, Steiner R, Pinto E Vairo F, Wang Y, Watson M, Fernandez R, Weaver M, Clarke L, Rehder C. Goldstein JL, et al. Among authors: udani r. Mol Genet Metab. 2023 Sep-Oct;140(1-2):107715. doi: 10.1016/j.ymgme.2023.107715. Epub 2023 Oct 26. Mol Genet Metab. 2023. PMID: 37907381
Long-term retinal imaging of a case of suspected congenital rubella infection.
Langlo CS, Trotter A, Reddi HV, Schilter KF, Tyler RC, Udani R, Neitz M, Carroll J, Connor TB. Langlo CS, et al. Among authors: udani r. Am J Ophthalmol Case Rep. 2021 Dec 7;25:101241. doi: 10.1016/j.ajoc.2021.101241. eCollection 2022 Mar. Am J Ophthalmol Case Rep. 2021. PMID: 34977425 Free PMC article.
CAGI SickKids challenges: Assessment of phenotype and variant predictions derived from clinical and genomic data of children with undiagnosed diseases.
Kasak L, Hunter JM, Udani R, Bakolitsa C, Hu Z, Adhikari AN, Babbi G, Casadio R, Gough J, Guerrero RF, Jiang Y, Joseph T, Katsonis P, Kotte S, Kundu K, Lichtarge O, Martelli PL, Mooney SD, Moult J, Pal LR, Poitras J, Radivojac P, Rao A, Sivadasan N, Sunderam U, Saipradeep VG, Yin Y, Zaucha J, Brenner SE, Meyn MS. Kasak L, et al. Among authors: udani r. Hum Mutat. 2019 Sep;40(9):1373-1391. doi: 10.1002/humu.23874. Epub 2019 Sep 3. Hum Mutat. 2019. PMID: 31322791 Free PMC article.
Common VWF sequence variants associated with higher VWF and FVIII are less frequent in subjects diagnosed with type 1 VWD.
Flood VH, Johnsen JM, Kochelek C, Slobodianuk TL, Christopherson PA, Haberichter SL, Udani R, Bellissimo DB, Friedman KD, Montgomery RR. Flood VH, et al. Among authors: udani r. Res Pract Thromb Haemost. 2018 Jan 23;2(2):390-398. doi: 10.1002/rth2.12077. eCollection 2018 Apr. Res Pract Thromb Haemost. 2018. PMID: 30046743 Free PMC article.
52 results