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Mutation analysis of B3GALTL in Peters Plus syndrome.
Reis LM, Tyler RC, Abdul-Rahman O, Trapane P, Wallerstein R, Broome D, Hoffman J, Khan A, Paradiso C, Ron N, Bergner A, Semina EV. Reis LM, et al. Among authors: khan a. Am J Med Genet A. 2008 Oct 15;146A(20):2603-10. doi: 10.1002/ajmg.a.32498. Am J Med Genet A. 2008. PMID: 18798333 Free PMC article.
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.
Vogel GF, Mozer-Glassberg Y, Landau YE, Schlieben LD, Prokisch H, Feichtinger RG, Mayr JA, Brennenstuhl H, Schröter J, Pechlaner A, Alkuraya FS, Baker JJ, Barcia G, Baric I, Braverman N, Burnyte B, Christodoulou J, Ciara E, Coman D, Das AM, Darin N, Della Marina A, Distelmaier F, Eklund EA, Ersoy M, Fang W, Gaignard P, Ganetzky RD, Gonzales E, Howard C, Hughes J, Konstantopoulou V, Kose M, Kerr M, Khan A, Lenz D, McFarland R, Margolis MG, Morrison K, Müller T, Murayama K, Nicastro E, Pennisi A, Peters H, Piekutowska-Abramczuk D, Rötig A, Santer R, Scaglia F, Schiff M, Shagrani M, Sharrard M, Soler-Alfonso C, Staufner C, Storey I, Stormon M, Taylor RW, Thorburn DR, Teles EL, Wang JS, Weghuber D, Wortmann S. Vogel GF, et al. Among authors: khan a. Genet Med. 2023 Jun;25(6):100314. doi: 10.1016/j.gim.2022.09.015. Epub 2022 Oct 29. Genet Med. 2023. PMID: 36305855 Free article.
An uncommon 3.4-Mb interstitial deletion at 3q29.
Wang JC, Naik H, Khan A, Nowaczyk MJM. Wang JC, et al. Among authors: khan a. Clin Dysmorphol. 2010 Jul;19(3):133-136. doi: 10.1097/MCD.0b013e3283387b21. Clin Dysmorphol. 2010. PMID: 20414105 No abstract available.
The era of panomics-driven gene discovery in plants.
Mishra S, Srivastava AK, Khan AW, Tran LP, Nguyen HT. Mishra S, et al. Among authors: khan aw. Trends Plant Sci. 2024 Apr 23:S1360-1385(24)00063-3. doi: 10.1016/j.tplants.2024.03.007. Online ahead of print. Trends Plant Sci. 2024. PMID: 38658292 Review.
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