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Page 1
Clinical implementation of RNA sequencing for Mendelian disease diagnostics.
Yépez VA, Gusic M, Kopajtich R, Mertes C, Smith NH, Alston CL, Ban R, Beblo S, Berutti R, Blessing H, Ciara E, Distelmaier F, Freisinger P, Häberle J, Hayflick SJ, Hempel M, Itkis YS, Kishita Y, Klopstock T, Krylova TD, Lamperti C, Lenz D, Makowski C, Mosegaard S, Müller MF, Muñoz-Pujol G, Nadel A, Ohtake A, Okazaki Y, Procopio E, Schwarzmayr T, Smet J, Staufner C, Stenton SL, Strom TM, Terrile C, Tort F, Van Coster R, Vanlander A, Wagner M, Xu M, Fang F, Ghezzi D, Mayr JA, Piekutowska-Abramczuk D, Ribes A, Rötig A, Taylor RW, Wortmann SB, Murayama K, Meitinger T, Gagneur J, Prokisch H. Yépez VA, et al. Among authors: blessing h. Genome Med. 2022 Apr 5;14(1):38. doi: 10.1186/s13073-022-01019-9. Genome Med. 2022. PMID: 35379322 Free PMC article.
Newborn screening and disease variants predict neurological outcome in isovaleric aciduria.
Mütze U, Henze L, Gleich F, Lindner M, Grünert SC, Spiekerkoetter U, Santer R, Blessing H, Thimm E, Ensenauer R, Weigel J, Beblo S, Arélin M, Hennermann JB, Marquardt T, Marquardt I, Freisinger P, Krämer J, Dieckmann A, Weinhold N, Keller M, Walter M, Schiergens KA, Maier EM, Hoffmann GF, Garbade SF, Kölker S. Mütze U, et al. Among authors: blessing h. J Inherit Metab Dis. 2021 Jul;44(4):857-870. doi: 10.1002/jimd.12364. Epub 2021 Feb 7. J Inherit Metab Dis. 2021. PMID: 33496032
Effect of dietary regime on metabolic control in phenylketonuria: Is exact calculation of phenylalanine intake really necessary?
Rohde C, Thiele AG, Och U, Schönherr K, Meyer U, Rosenbaum-Fabian S, Maddalon C, Matzken S, Blessing H, Lang F, Jörg-Streller M, Beblo S. Rohde C, et al. Among authors: blessing h. Mol Genet Metab Rep. 2015 Oct 22;5:36-41. doi: 10.1016/j.ymgmr.2015.09.006. eCollection 2015 Dec. Mol Genet Metab Rep. 2015. PMID: 28649540 Free PMC article.
[Imaging of Niemann-Pick Disease.].
Staatz G, Alibek S, Knerr I, Blessing H. Staatz G, et al. Among authors: blessing h. Rofo. 2008 Nov;180(11):947-948. doi: 10.1055/s-2008-1101405. Epub 2008 Oct 24. Rofo. 2008. PMID: 18951340 German. No abstract available.
Microarray analysis of placental tissue in intrauterine growth restriction.
Struwe E, Berzl G, Schild R, Blessing H, Drexel L, Hauck B, Tzschoppe A, Weidinger M, Sachs M, Scheler C, Schleussner E, Dötsch J. Struwe E, et al. Among authors: blessing h. Clin Endocrinol (Oxf). 2010 Feb;72(2):241-7. doi: 10.1111/j.1365-2265.2009.03659.x. Epub 2009 Jun 22. Clin Endocrinol (Oxf). 2010. PMID: 19548955
Placental 11beta-HSD2 gene expression at birth is inversely correlated with growth velocity in the first year of life after intrauterine growth restriction.
Tzschoppe A, Struwe E, Blessing H, Fahlbusch F, Liebhaber G, Dörr HG, Rauh M, Rascher W, Goecke TW, Schild RL, Schleussner E, Scheler C, Hübler A, Dahlem P, Dötsch J. Tzschoppe A, et al. Among authors: blessing h. Pediatr Res. 2009 Jun;65(6):647-53. doi: 10.1203/PDR.0b013e31819e7337. Pediatr Res. 2009. PMID: 19218882
55 results