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Page 1
Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects.
Roos A, van der Ven PFM, Alrohaif H, Kölbel H, Heil L, Della Marina A, Weis J, Aßent M, Beck-Wödl S, Barresi R, Töpf A, O'Connor K, Sickmann A, Kohlschmidt N, El Gizouli M, Meyer N, Daya N, Grande V, Bois K, Kaiser FJ, Vorgerd M, Schröder C, Schara-Schmidt U, Gangfuss A, Evangelista T, Röbisch L, Hentschel A, Grüneboom A, Fuerst DO, Kuechler A, Tzschach A, Depienne C, Lochmüller H. Roos A, et al. Among authors: kuechler a. Brain. 2023 Oct 3;146(10):4200-4216. doi: 10.1093/brain/awad152. Brain. 2023. PMID: 37163662 Free PMC article.
Microcephaly, microtia, preauricular tags, choanal atresia and developmental delay in three unrelated patients: a mandibulofacial dysostosis distinct from Treacher Collins syndrome.
Wieczorek D, Gener B, González MJ, Seland S, Fischer S, Hehr U, Kuechler A, Hoefsloot LH, de Leeuw N, Gillessen-Kaesbach G, Lohmann DR. Wieczorek D, et al. Among authors: kuechler a. Am J Med Genet A. 2009 May;149A(5):837-43. doi: 10.1002/ajmg.a.32747. Am J Med Genet A. 2009. PMID: 19334086
DEGRO 2004 : 10. Jahreskongress der Deutschen Gesellschaft für Radioonkologie.
Wendt TG, Gademann G, Pambor C, Grießbach I, von Specht H, Martin T, Baltas D, Kurek R, Röddiger S, Tunn UW, Zamboglou N, Eich HT, Staar S, Gossmann A, Hansemann K, Semrau R, Skripnitchenko R, Diehl V, Müller RP, Sehlen S, Willich N, Rühl U, Lukas P, Dühmke E, Engel K, Tabbert E, Bolck M, Knaack S, Annweiler H, Krempien R, Hoppe H, Harms W, Daeuber S, Schorr O, Treiber M, Debus J, Alber M, Paulsen F, Birkner M, Bakai A, Belka C, Budach W, Grosser KH, Kramer R, Kober B, Reinert M, Schneider P, Hertel A, Feldmann H, Csere P, Hoinkis C, Rothe G, Zahn P, Alheit H, Cavanaugh SX, Kupelian P, Reddy C, Pollock B, Fuss M, Roeddiger S, Dannenberg T, Rogge B, Drechsler D, Herrmann T, Alberti W, Schwarz R, Graefen M, Krüll A, Rudat V, Huland H, Fehr C, Baum C, Glocker S, Nüsslin F, Heil T, Lemnitzer H, Knips M, Baumgart O, Thiem W, Kloetzer KH, Hoffmann L, Neu B, Hültenschmidt B, Sautter-Bihl ML, Micke O, Seegenschmiedt MH, Köppen D, Klautke G, Fietkau R, Schultze J, Schlichting G, Koltze H, Kimmig B, Glatzel M, Fröhlich D, Bäsecke S, Krauß A, Strauß D, Buth KJ, Böhme R, Oehler W, Bottke D, Keilholz U, Heufelder K, Wiegel T, Hinkelbein W, Rödel C, Papadopoulos T, Munnes M, Wirtz R, Sauer R, R… See abstract for full author list ➔ Wendt TG, et al. Among authors: kuechler a. Strahlenther Onkol. 2004 Jun;180 Suppl 1:5-87. doi: 10.1007/BF03356734. Strahlenther Onkol. 2004. PMID: 27137922 German. No abstract available.
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders.
Reynhout S, Jansen S, Haesen D, van Belle S, de Munnik SA, Bongers EMHF, Schieving JH, Marcelis C, Amiel J, Rio M, Mclaughlin H, Ladda R, Sell S, Kriek M, Peeters-Scholte CMPCD, Terhal PA, van Gassen KL, Verbeek N, Henry S, Schwoerer JS, Malik S, Revencu N, Ferreira CR, Macnamara E, Braakman HMH, Brimble E, Ruzhnikov MRZ, Wagner M, Harrer P, Wieczorek D, Kuechler A, Tziperman B, Barel O, de Vries BBA, Gordon CT, Janssens V, Vissers LELM. Reynhout S, et al. Among authors: kuechler a. Am J Hum Genet. 2019 Feb 7;104(2):357. doi: 10.1016/j.ajhg.2019.01.003. Am J Hum Genet. 2019. PMID: 30735662 Free PMC article. No abstract available.
126 results