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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1973 1
1975 2
1976 3
1977 1
1978 3
1979 2
1980 2
1981 4
1982 4
1983 4
1984 7
1985 4
1986 2
1987 3
1988 3
1989 3
1990 3
1991 1
1992 4
1993 2
1994 1
1995 3
1996 2
1997 4
1998 3
1999 4
2000 1
2001 3
2002 6
2003 3
2004 7
2005 5
2006 5
2007 5
2008 5
2009 8
2010 10
2011 8
2012 4
2013 3
2016 2
2017 3
2018 1
2021 0
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Search Results

137 results
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Page 1
Genetic diagnosis of Mendelian disorders via RNA sequencing.
Kremer LS, Bader DM, Mertes C, Kopajtich R, Pichler G, Iuso A, Haack TB, Graf E, Schwarzmayr T, Terrile C, Koňaříková E, Repp B, Kastenmüller G, Adamski J, Lichtner P, Leonhardt C, Funalot B, Donati A, Tiranti V, Lombes A, Jardel C, Gläser D, Taylor RW, Ghezzi D, Mayr JA, Rötig A, Freisinger P, Distelmaier F, Strom TM, Meitinger T, Gagneur J, Prokisch H. Kremer LS, et al. Among authors: repp b. Nat Commun. 2017 Jun 12;8:15824. doi: 10.1038/ncomms15824. Nat Commun. 2017. PMID: 28604674 Free PMC article.
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
Repp BM, Mastantuono E, Alston CL, Schiff M, Haack TB, Rötig A, Ardissone A, Lombès A, Catarino CB, Diodato D, Schottmann G, Poulton J, Burlina A, Jonckheere A, Munnich A, Rolinski B, Ghezzi D, Rokicki D, Wellesley D, Martinelli D, Wenhong D, Lamantea E, Ostergaard E, Pronicka E, Pierre G, Smeets HJM, Wittig I, Scurr I, de Coo IFM, Moroni I, Smet J, Mayr JA, Dai L, de Meirleir L, Schuelke M, Zeviani M, Morscher RJ, McFarland R, Seneca S, Klopstock T, Meitinger T, Wieland T, Strom TM, Herberg U, Ahting U, Sperl W, Nassogne MC, Ling H, Fang F, Freisinger P, Van Coster R, Strecker V, Taylor RW, Häberle J, Vockley J, Prokisch H, Wortmann S. Repp BM, et al. Orphanet J Rare Dis. 2018 Jul 19;13(1):120. doi: 10.1186/s13023-018-0784-8. Orphanet J Rare Dis. 2018. PMID: 30025539 Free PMC article.
Inferring agency from sound.
Knoblich G, Repp BH. Knoblich G, et al. Among authors: repp bh. Cognition. 2009 May;111(2):248-62. doi: 10.1016/j.cognition.2009.02.007. Cognition. 2009. PMID: 19306996
137 results
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