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Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease.
Calame DG, Guo T, Wang C, Garrett L, Jolly A, Dawood M, Kurolap A, Henig NZ, Fatih JM, Herman I, Du H, Mitani T, Becker L, Rathkolb B, Gerlini R, Seisenberger C, Marschall S, Hunter JV, Gerard A, Heidlebaugh A, Challman T, Spillmann RC, Jhangiani SN, Coban-Akdemir Z, Lalani S, Liu L, Revah-Politi A, Iglesias A, Guzman E, Baugh E, Boddaert N, Rondeau S, Ormieres C, Barcia G, Tan QKG, Thiffault I, Pastinen T, Sheikh K, Biliciler S, Mei D, Melani F, Shashi V, Yaron Y, Steele M, Wakeling E, Østergaard E, Nazaryan-Petersen L; Undiagnosed Diseases Network; Millan F, Santiago-Sim T, Thevenon J, Bruel AL, Thauvin-Robinet C, Popp D, Platzer K, Gawlinski P, Wiszniewski W, Marafi D, Pehlivan D, Posey JE, Gibbs RA, Gailus-Durner V, Guerrini R, Fuchs H, Hrabě de Angelis M, Hölter SM, Cheung HH, Gu S, Lupski JR. Calame DG, et al. Among authors: fuchs h. Am J Hum Genet. 2023 Aug 3;110(8):1394-1413. doi: 10.1016/j.ajhg.2023.06.013. Epub 2023 Jul 18. Am J Hum Genet. 2023. PMID: 37467750 Free PMC article.
Genome-wide, large-scale production of mutant mice by ENU mutagenesis.
Hrabé de Angelis MH, Flaswinkel H, Fuchs H, Rathkolb B, Soewarto D, Marschall S, Heffner S, Pargent W, Wuensch K, Jung M, Reis A, Richter T, Alessandrini F, Jakob T, Fuchs E, Kolb H, Kremmer E, Schaeble K, Rollinski B, Roscher A, Peters C, Meitinger T, Strom T, Steckler T, Holsboer F, Klopstock T, Gekeler F, Schindewolf C, Jung T, Avraham K, Behrendt H, Ring J, Zimmer A, Schughart K, Pfeffer K, Wolf E, Balling R. Hrabé de Angelis MH, et al. Among authors: fuchs h, fuchs e. Nat Genet. 2000 Aug;25(4):444-7. doi: 10.1038/78146. Nat Genet. 2000. PMID: 10932192
Beethoven, a mouse model for dominant, progressive hearing loss DFNA36.
Vreugde S, Erven A, Kros CJ, Marcotti W, Fuchs H, Kurima K, Wilcox ER, Friedman TB, Griffith AJ, Balling R, Hrabé De Angelis M, Avraham KB, Steel KP. Vreugde S, et al. Among authors: fuchs h. Nat Genet. 2002 Mar;30(3):257-8. doi: 10.1038/ng848. Epub 2002 Feb 19. Nat Genet. 2002. PMID: 11850623
A genetic screen for modifiers of the delta1-dependent notch signaling function in the mouse.
Rubio-Aliaga I, Soewarto D, Wagner S, Klaften M, Fuchs H, Kalaydjiev S, Busch DH, Klempt M, Rathkolb B, Wolf E, Abe K, Zeiser S, Przemeck GK, Beckers J, de Angelis MH. Rubio-Aliaga I, et al. Among authors: fuchs h. Genetics. 2007 Mar;175(3):1451-63. doi: 10.1534/genetics.106.067298. Epub 2006 Dec 18. Genetics. 2007. PMID: 17179084 Free PMC article.
Power matters in closing the phenotyping gap.
Meyer CW, Elvert R, Scherag A, Ehrhardt N, Gailus-Durner V, Fuchs H, Schäfer H, Hrabé de Angelis M, Heldmaier G, Klingenspor M. Meyer CW, et al. Among authors: fuchs h. Naturwissenschaften. 2007 May;94(5):401-6. doi: 10.1007/s00114-006-0203-1. Epub 2007 Jan 10. Naturwissenschaften. 2007. PMID: 17216184
ER stress-mediated apoptosis in a new mouse model of osteogenesis imperfecta.
Lisse TS, Thiele F, Fuchs H, Hans W, Przemeck GK, Abe K, Rathkolb B, Quintanilla-Martinez L, Hoelzlwimmer G, Helfrich M, Wolf E, Ralston SH, Hrabé de Angelis M. Lisse TS, et al. Among authors: fuchs h. PLoS Genet. 2008 Feb;4(2):e7. doi: 10.1371/journal.pgen.0040007. PLoS Genet. 2008. PMID: 18248096 Free PMC article.
1,459 results