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High tandem repeat content in the genome of the short-lived annual fish Nothobranchius furzeri: a new vertebrate model for aging research.
Reichwald K, Lauber C, Nanda I, Kirschner J, Hartmann N, Schories S, Gausmann U, Taudien S, Schilhabel MB, Szafranski K, Glöckner G, Schmid M, Cellerino A, Schartl M, Englert C, Platzer M. Reichwald K, et al. Among authors: kirschner j. Genome Biol. 2009 Feb 11;10(2):R16. doi: 10.1186/gb-2009-10-2-r16. Genome Biol. 2009. PMID: 19210790 Free PMC article.
Mapping of quantitative trait loci controlling lifespan in the short-lived fish Nothobranchius furzeri--a new vertebrate model for age research.
Kirschner J, Weber D, Neuschl C, Franke A, Böttger M, Zielke L, Powalsky E, Groth M, Shagin D, Petzold A, Hartmann N, Englert C, Brockmann GA, Platzer M, Cellerino A, Reichwald K. Kirschner J, et al. Aging Cell. 2012 Apr;11(2):252-61. doi: 10.1111/j.1474-9726.2011.00780.x. Epub 2012 Jan 13. Aging Cell. 2012. PMID: 22221414 Free PMC article.
Lack of association of genetic variants in genes of the endocannabinoid system with anorexia nervosa.
Müller TD, Reichwald K, Brönner G, Kirschner J, Nguyen TT, Scherag A, Herzog W, Herpertz-Dahlmann B, Lichtner P, Meitinger T, Platzer M, Schäfer H, Hebebrand J, Hinney A. Müller TD, et al. Among authors: kirschner j. Child Adolesc Psychiatry Ment Health. 2008 Nov 17;2(1):33. doi: 10.1186/1753-2000-2-33. Child Adolesc Psychiatry Ment Health. 2008. PMID: 19014633 Free PMC article.
Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial.
Schwartz O, Vill K, Pfaffenlehner M, Behrens M, Weiß C, Johannsen J, Friese J, Hahn A, Ziegler A, Illsinger S, Smitka M, von Moers A, Kölbel H, Schreiber G, Kaiser N, Wilichowski E, Flotats-Bastardas M, Husain RA, Baumann M, Köhler C, Trollmann R, Schwerin-Nagel A, Eisenkölbl A, Schimmel M, Fleger M, Kauffmann B, Wiegand G, Baumgartner M, Rauscher C, Cirak S, Gläser D, Bernert G, Hagenacker T, Goldbach S, Probst-Schendzielorz K, Lochmüller H, Müller-Felber W, Schara-Schmidt U, Walter MC, Kirschner J, Pechmann A; SMARTCARE study group. Schwartz O, et al. Among authors: kirschner j. JAMA Pediatr. 2024 Apr 8:e240492. doi: 10.1001/jamapediatrics.2024.0492. Online ahead of print. JAMA Pediatr. 2024. PMID: 38587854
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy.
Foley AR, Bolduc V, Guirguis F, Donkervoort S, Hu Y, Orbach R, McCarty RM, Sarathy A, Norato G, Cummings BB, Lek M, Sarkozy A, Butterfield RJ, Kirschner J, Nascimento A, Benito DN, Quijano-Roy S, Stojkovic T, Merlini L, Comi G, Ryan M, McDonald D, Munot P, Yoon G, Leung E, Finanger E, Leach ME, Collins J, Tian C, Mohassel P, Neuhaus SB, Saade D, Cocanougher BT, Chu ML, Scavina M, Grosmann C, Richardson R, Kossak BD, Gospe SM Jr, Bhise V, Taurina G, Lace B, Troncoso M, Shohat M, Shalata A, Chan SHS, Jokela M, Palmio J, Haliloğlu G, Jou C, Gartioux C, Solomon-Degefa H, Freiburg CD, Schiavinato A, Zhou H, Aguti S, Nevo Y, Nishino I, Jimenez-Mallebrera C, Lamandé SR, Allamand V, Gualandi F, Ferlini A, MacArthur DG, Wilton SD, Wagener R, Bertini E, Muntoni F, Bönnemann CG. Foley AR, et al. Among authors: kirschner j. medRxiv [Preprint]. 2024 Mar 29:2024.03.29.24304673. doi: 10.1101/2024.03.29.24304673. medRxiv. 2024. PMID: 38585825 Free PMC article. Preprint.
498 results