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Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.
Sheppard SE, Bryant L, Wickramasekara RN, Vaccaro C, Robertson B, Hallgren J, Hulen J, Watson CJ, Faundes V, Duffourd Y, Lee P, Simon MC, de la Cruz X, Padilla N, Flores-Mendez M, Akizu N, Smiler J, Pellegrino Da Silva R, Li D, March M, Diaz-Rosado A, Peixoto de Barcelos I, Choa ZX, Lim CY, Dubourg C, Journel H, Demurger F, Mulhern M, Akman C, Lippa N, Andrews M, Baldridge D, Constantino J, van Haeringen A, Snoeck-Streef I, Chow P, Hing A, Graham JM Jr, Au M, Faivre L, Shen W, Mao R, Palumbos J, Viskochil D, Gahl W, Tifft C, Macnamara E, Hauser N, Miller R, Maffeo J, Afenjar A, Doummar D, Keren B, Arn P, Macklin-Mantia S, Meerschaut I, Callewaert B, Reis A, Zweier C, Brewer C, Saggar A, Smeland MF, Kumar A, Elmslie F, Deshpande C, Nizon M, Cogne B, van Ierland Y, Wilke M, van Slegtenhorst M, Koudijs S, Chen JY, Dredge D, Pier D, Wortmann S, Kamsteeg EJ, Koch J, Haynes D, Pollack L, Titheradge H, Ranguin K, Denommé-Pichon AS, Weber S, Pérez de la Fuente R, Sánchez Del Pozo J, Lezana Rosales JM, Joset P, Steindl K, Rauch A, Mei D, Mari F, Guerrini R, Lespinasse J, Tran Mau-Them F, Philippe C, Dauriat B, Raymond L, Moutton S, Cueto-González AM, Tan TY, Mignot C, Grotto S, Renaldo F, … See abstract for full author list ➔ Sheppard SE, et al. Among authors: kuechler a. Sci Adv. 2023 Mar 10;9(10):eade1463. doi: 10.1126/sciadv.ade1463. Epub 2023 Mar 10. Sci Adv. 2023. PMID: 36897941 Free PMC article.
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.
Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation and classification.
Starke H, Nietzel A, Weise A, Heller A, Mrasek K, Belitz B, Kelbova C, Volleth M, Albrecht B, Mitulla B, Trappe R, Bartels I, Adolph S, Dufke A, Singer S, Stumm M, Wegner RD, Seidel J, Schmidt A, Kuechler A, Schreyer I, Claussen U, von Eggeling F, Liehr T. Starke H, et al. Among authors: kuechler a. Hum Genet. 2003 Dec;114(1):51-67. doi: 10.1007/s00439-003-1016-3. Epub 2003 Sep 16. Hum Genet. 2003. PMID: 13680362
121 results