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

Year Number of Results
1930 1
1937 1
1945 1
1948 2
1949 1
1951 1
1952 1
1953 4
1954 1
1955 5
1957 3
1958 2
1959 6
1960 1
1961 1
1962 5
1963 4
1964 7
1965 6
1966 4
1968 1
1969 4
1970 2
1971 2
1972 4
1973 2
1974 3
1975 1
1976 2
1977 4
1978 6
1979 5
1980 9
1981 5
1982 3
1983 8
1984 14
1985 9
1986 14
1987 7
1988 11
1989 12
1990 12
1991 8
1992 14
1993 14
1994 21
1995 10
1996 14
1997 16
1998 13
1999 13
2000 20
2001 14
2002 10
2003 15
2004 16
2005 22
2006 33
2007 33
2008 43
2009 35
2010 29
2011 27
2012 49
2013 53
2014 58
2015 52
2016 50
2017 51
2018 57
2019 71
2020 113
2021 120
2022 82
2023 80
2024 31

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1,340 results

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Page 1
Acute Liver Failure Guidelines.
Shingina A, Mukhtar N, Wakim-Fleming J, Alqahtani S, Wong RJ, Limketkai BN, Larson AM, Grant L. Shingina A, et al. Among authors: larson am. Am J Gastroenterol. 2023 Jul 1;118(7):1128-1153. doi: 10.14309/ajg.0000000000002340. Epub 2023 Mar 20. Am J Gastroenterol. 2023. PMID: 37377263
A new neurodevelopmental disorder linked to heterozygous variants in UNC79.
Bayat A, Liu Z, Luo S, Fenger CD, Højte AF, Isidor B, Cogne B, Larson A, Zanus C, Faletra F, Keren B, Musante L, Gourfinkel-An I, Perrine C, Demily C, Lesca G, Liao W, Ren D. Bayat A, et al. Among authors: larson a. Genet Med. 2023 Sep;25(9):100894. doi: 10.1016/j.gim.2023.100894. Epub 2023 May 11. Genet Med. 2023. PMID: 37183800
Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype.
Zanoni P, Steindl K, Sengupta D, Joset P, Bahr A, Sticht H, Lang-Muritano M, van Ravenswaaij-Arts CMA, Shinawi M, Andrews M, Attie-Bitach T, Maystadt I, Belnap N, Benoit V, Delplancq G, de Vries BBA, Grotto S, Lacombe D, Larson A, Mourmans J, Õunap K, Petrilli G, Pfundt R, Ramsey K, Blok LS, Tsatsaris V, Vitobello A, Faivre L, Wheeler PG, Wevers MR, Wojcik M, Zweier M, Gozani O, Rauch A. Zanoni P, et al. Among authors: larson a. Genet Med. 2021 Aug;23(8):1474-1483. doi: 10.1038/s41436-021-01158-1. Epub 2021 May 3. Genet Med. 2021. PMID: 33941880 Free PMC article.
De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.
Vissers LELM, Kalvakuri S, de Boer E, Geuer S, Oud M, van Outersterp I, Kwint M, Witmond M, Kersten S, Polla DL, Weijers D, Begtrup A, McWalter K, Ruiz A, Gabau E, Morton JEV, Griffith C, Weiss K, Gamble C, Bartley J, Vernon HJ, Brunet K, Ruivenkamp C, Kant SG, Kruszka P, Larson A, Afenjar A, Billette de Villemeur T, Nugent K; DDD Study; Raymond FL, Venselaar H, Demurger F, Soler-Alfonso C, Li D, Bhoj E, Hayes I, Hamilton NP, Ahmad A, Fisher R, van den Born M, Willems M, Sorlin A, Delanne J, Moutton S, Christophe P, Mau-Them FT, Vitobello A, Goel H, Massingham L, Phornphutkul C, Schwab J, Keren B, Charles P, Vreeburg M, De Simone L, Hoganson G, Iascone M, Milani D, Evenepoel L, Revencu N, Ward DI, Burns K, Krantz I, Raible SE, Murrell JR, Wood K, Cho MT, van Bokhoven H, Muenke M, Kleefstra T, Bodmer R, de Brouwer APM. Vissers LELM, et al. Among authors: larson a. Am J Hum Genet. 2020 Jul 2;107(1):164-172. doi: 10.1016/j.ajhg.2020.05.017. Epub 2020 Jun 17. Am J Hum Genet. 2020. PMID: 32553196 Free PMC article.
In memoriam.
Van Hove JLK, Thomas JA, Baker PR 2nd, Larson AA. Van Hove JLK, et al. Among authors: larson aa. J Inherit Metab Dis. 2018 May 7. doi: 10.1007/s10545-018-0191-2. Online ahead of print. J Inherit Metab Dis. 2018. PMID: 29736632 No abstract available.
MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects.
Coursimault J, Guerrot AM, Morrow MM, Schramm C, Zamora FM, Shanmugham A, Liu S, Zou F, Bilan F, Le Guyader G, Bruel AL, Denommé-Pichon AS, Faivre L, Tran Mau-Them F, Tessarech M, Colin E, El Chehadeh S, Gérard B, Schaefer E, Cogne B, Isidor B, Nizon M, Doummar D, Valence S, Héron D, Keren B, Mignot C, Coutton C, Devillard F, Alaix AS, Amiel J, Colleaux L, Munnich A, Poirier K, Rio M, Rondeau S, Barcia G, Callewaert B, Dheedene A, Kumps C, Vergult S, Menten B, Chung WK, Hernan R, Larson A, Nori K, Stewart S, Wheless J, Kresge C, Pletcher BA, Caumes R, Smol T, Sigaudy S, Coubes C, Helm M, Smith R, Morrison J, Wheeler PG, Kritzer A, Jouret G, Afenjar A, Deleuze JF, Olaso R, Boland A, Poitou C, Frebourg T, Houdayer C, Saugier-Veber P, Nicolas G, Lecoquierre F. Coursimault J, et al. Among authors: larson a. Hum Genet. 2022 Jan;141(1):65-80. doi: 10.1007/s00439-021-02383-z. Epub 2021 Nov 8. Hum Genet. 2022. PMID: 34748075 Free article.
Reply.
Larson AS, Brinjikji W. Larson AS, et al. AJNR Am J Neuroradiol. 2021 Apr;42(4):E28. doi: 10.3174/ajnr.A6986. Epub 2021 Mar 4. AJNR Am J Neuroradiol. 2021. PMID: 33664104 Free PMC article. No abstract available.
Sorbitol Is a Severity Biomarker for PMM2-CDG with Therapeutic Implications.
Ligezka AN, Radenkovic S, Saraswat M, Garapati K, Ranatunga W, Krzysciak W, Yanaihara H, Preston G, Brucker W, McGovern RM, Reid JM, Cassiman D, Muthusamy K, Johnsen C, Mercimek-Andrews S, Larson A, Lam C, Edmondson AC, Ghesquière B, Witters P, Raymond K, Oglesbee D, Pandey A, Perlstein EO, Kozicz T, Morava E. Ligezka AN, et al. Among authors: larson a. Ann Neurol. 2021 Dec;90(6):887-900. doi: 10.1002/ana.26245. Epub 2021 Oct 26. Ann Neurol. 2021. PMID: 34652821 Free PMC article.
1,340 results