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

Year Number of Results
1940 1
1941 1
1948 1
1949 1
1958 1
1959 1
1961 1
1965 1
1966 1
1969 3
1970 3
1971 2
1973 1
1974 1
1976 2
1978 1
1979 1
1980 4
1981 5
1982 2
1983 1
1984 3
1985 1
1986 8
1987 6
1988 5
1989 3
1990 13
1991 7
1992 8
1993 20
1994 10
1995 11
1996 9
1997 24
1998 27
1999 39
2000 36
2001 27
2002 20
2003 24
2004 28
2005 37
2006 31
2007 44
2008 51
2009 52
2010 53
2011 64
2012 64
2013 83
2014 71
2015 101
2016 94
2017 107
2018 107
2019 117
2020 130
2021 132
2022 140
2023 136
2024 137
2025 145
2026 71

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2,095 results

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Page 1
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Paul MS, Michener SL, Pan H, Chan H, Pfliger JM, Rosenfeld JA, Lerma VC, Tran A, Longley MA, Lewis RA, Weisz-Hubshman M, Bekheirnia MR, Bekheirnia N, Massingham L, Zech M, Wagner M, Engels H, Cremer K, Mangold E, Peters S, Trautmann J, Mester JL, Guillen Sacoto MJ, Person R, McDonnell PP, Cohen SR, Lusk L, Cohen ASA, Le Pichon JB, Pastinen T, Zhou D, Engleman K, Racine C, Faivre L, Moutton S, Denommé-Pichon AS, Koh HY, Poduri A, Bolton J, Knopp C, Julia Suh DS, Maier A, Toosi MB, Karimiani EG, Maroofian R, Schaefer GB, Ramakumaran V, Vasudevan P, Prasad C, Osmond M, Schuhmann S, Vasileiou G, Russ-Hall S, Scheffer IE, Carvill GL, Mefford H; Undiagnosed Diseases Network; Bacino CA, Lee BH, Chao HT. Paul MS, et al. Among authors: chao ht. Am J Hum Genet. 2024 Jan 4;111(1):96-118. doi: 10.1016/j.ajhg.2023.12.004. Am J Hum Genet. 2024. PMID: 38181735 Free PMC article.
Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement.
LaFlamme CW, Rastin C, Sengupta S, Pennington HE, Russ-Hall SJ, Schneider AL, Bonkowski ES, Almanza Fuerte EP, Allan TJ, Zalusky MP, Goffena J, Gibson SB, Nyaga DM, Lieffering N, Hebbar M, Walker EV, Darnell D, Olsen SR, Kolekar P, Djekidel MN, Rosikiewicz W, McConkey H, Kerkhof J, Levy MA, Relator R, Lev D, Lerman-Sagie T, Park KL, Alders M, Cappuccio G, Chatron N, Demain L, Genevieve D, Lesca G, Roscioli T, Sanlaville D, Tedder ML, Gupta S, Jones EA, Weisz-Hubshman M, Ketkar S, Dai H, Worley KC, Rosenfeld JA, Chao HT; Undiagnosed Diseases Network; Neale G, Carvill GL; University of Washington Center for Rare Disease Research; Wang Z, Berkovic SF, Sadleir LG, Miller DE, Scheffer IE, Sadikovic B, Mefford HC. LaFlamme CW, et al. Among authors: chao ht. Nat Commun. 2024 Aug 6;15(1):6524. doi: 10.1038/s41467-024-50159-6. Nat Commun. 2024. PMID: 39107278 Free PMC article.
Introduction to "Chemical biology of metals".
Casini A, Chao H, Sun H, Chang CJ. Casini A, et al. Among authors: chao h. RSC Chem Biol. 2024 May 10;5(6):481-482. doi: 10.1039/d4cb90017k. eCollection 2024 Jun 5. RSC Chem Biol. 2024. PMID: 38846075 Free PMC article.
2,095 results