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Choroideremia Is a Systemic Disease With Lymphocyte Crystals and Plasma Lipid and RBC Membrane Abnormalities.
Zhang AY, Mysore N, Vali H, Koenekoop J, Cao SN, Li S, Ren H, Keser V, Lopez-Solache I, Siddiqui SN, Khan A, Mui J, Sears K, Dixon J, Schwartzentruber J, Majewski J, Braverman N, Koenekoop RK. Zhang AY, et al. Among authors: braverman n. Invest Ophthalmol Vis Sci. 2015 Dec;56(13):8158-65. doi: 10.1167/iovs.14-15751. Invest Ophthalmol Vis Sci. 2015. PMID: 26720468 Free PMC article.
Renal tubular dysgenesis and microcolon, a novel association. Report of three cases.
Saskin A, Alfares A, Bernard C, Blumenkrantz M, Braverman N, Gupta I, Brosnihan KB, Antignac C, Gubler MC, Morinière V, De Bie I, Bitzan M. Saskin A, et al. Among authors: braverman n. Eur J Med Genet. 2019 Apr;62(4):254-258. doi: 10.1016/j.ejmg.2018.07.024. Epub 2018 Jul 31. Eur J Med Genet. 2019. PMID: 30071301
Phenylalanine hydroxylase deficiency: diagnosis and management guideline.
Vockley J, Andersson HC, Antshel KM, Braverman NE, Burton BK, Frazier DM, Mitchell J, Smith WE, Thompson BH, Berry SA; American College of Medical Genetics and Genomics Therapeutics Committee. Vockley J, et al. Genet Med. 2014 Feb;16(2):188-200. doi: 10.1038/gim.2013.157. Epub 2013 Oct 10. Genet Med. 2014. PMID: 24385074 Free 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: braverman n. 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.
135 results