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

Year Number of Results
1969 2
1972 1
1974 1
1975 1
1977 2
1978 3
1979 2
1980 2
1981 1
1982 1
1983 2
1984 1
1985 1
1986 1
1987 3
1988 2
1989 2
1991 1
1992 1
1993 2
1994 1
1995 1
1996 2
1997 2
1998 1
1999 3
2000 1
2001 1
2003 1
2004 2
2005 2
2006 1
2007 4
2008 3
2009 1
2010 4
2011 4
2012 6
2013 3
2014 1
2015 2
2016 3
2017 6
2018 2
2019 2
2020 4
2021 1
2022 1
2023 2
2024 6
2025 0

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96 results

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Page 1
Tuberous Sclerosis Complex.
Northrup H, Koenig MK, Pearson DA, Au KS. Northrup H, et al. Among authors: au ks. 1999 Jul 13 [updated 2024 Aug 1]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 1999 Jul 13 [updated 2024 Aug 1]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 20301399 Free Books & Documents. Review.
Risk of meningomyelocele mediated by the common 22q11.2 deletion.
Vong KI, Lee S, Au KS, Crowley TB, Capra V, Martino J, Haller M, Araújo C, Machado HR, George R, Gerding B, James KN, Stanley V, Jiang N, Alu K, Meave N, Nidhiry AS, Jiwani F, Tang I, Nisal A, Jhamb I, Patel A, Patel A, McEvoy-Venneri J, Barrows C, Shen C, Ha YJ, Howarth R, Strain M, Ashley-Koch AE, Azam M, Mumtaz S, Bot GM, Finnell RH, Kibar Z, Marwan AI, Melikishvili G, Meltzer HS, Mutchinick OM, Stevenson DA, Mroczkowski HJ, Ostrander B, Schindewolf E, Moldenhauer J, Zackai EH, Emanuel BS, Garcia-Minaur S, Nowakowska BA, Stevenson RE, Zaki MS, Northrup H, McNamara HK, Aldinger KA, Phelps IG, Deng M, Glass IA; Spina Bifida Sequencing Consortium‡; Morrow B, McDonald-McGinn DM, Sanna-Cherchi S, Lamb DJ, Gleeson JG. Vong KI, et al. Among authors: au ks. Science. 2024 May 3;384(6695):584-590. doi: 10.1126/science.adl1624. Epub 2024 May 2. Science. 2024. PMID: 38696583
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability.
Bogaert E, Garde A, Gautier T, Rooney K, Duffourd Y, LeBlanc P, van Reempts E, Tran Mau-Them F, Wentzensen IM, Au KS, Richardson K, Northrup H, Gatinois V, Geneviève D, Louie RJ, Lyons MJ, Laulund LW, Brasch-Andersen C, Maxel Juul T, El It F, Marle N, Callier P, Relator R, Haghshenas S, McConkey H, Kerkhof J, Cesario C, Novelli A, Brunetti-Pierri N, Pinelli M, Pennamen P, Naudion S, Legendre M, Courdier C, Trimouille A, Fenzy MD, Pais L, Yeung A, Nugent K, Roeder ER, Mitani T, Posey JE, Calame D, Yonath H, Rosenfeld JA, Musante L, Faletra F, Montanari F, Sartor G, Vancini A, Seri M, Besmond C, Poirier K, Hubert L, Hemelsoet D, Munnich A, Lupski JR, Philippe C, Thauvin-Robinet C, Faivre L, Sadikovic B, Govin J, Dermaut B, Vitobello A. Bogaert E, et al. Among authors: au ks. Am J Hum Genet. 2023 May 4;110(5):790-808. doi: 10.1016/j.ajhg.2023.03.016. Epub 2023 Apr 17. Am J Hum Genet. 2023. PMID: 37071997 Free PMC article.
Drug-Resistant Epilepsy in Tuberous Sclerosis Complex Is Associated With TSC2 Genotype: More Findings From the Preventing Epilepsy Using Vigatrin (PREVeNT) Trial.
Farach LS, Richard MA, Wulsin AC, Bebin EM, Krueger DA, Sahin M, Porter BE, McPherson TO, Peters JM, O'Kelley S, Taub KS, Rajaraman R, Randle SC, McClintock WM, Koenig MK, Frost MD, Werner K, Nolan DA, Wong M, Cutter G, Northrup H, Au KS; PREVeNT Study Group. Farach LS, et al. Among authors: au ks. Pediatr Neurol. 2024 Oct;159:62-71. doi: 10.1016/j.pediatrneurol.2024.06.012. Epub 2024 Jul 4. Pediatr Neurol. 2024. PMID: 39142021
TSC2 c.1864C>T variant associated with mild cases of tuberous sclerosis complex.
Farach LS, Gibson WT, Sparagana SP, Nellist M, Stumpel CT, Hietala M, Friedman E, Pearson DA, Creighton SP, Wagemans A, Segel R, Ben-Shalom E, Au KS, Northrup H. Farach LS, et al. Among authors: au ks. Am J Med Genet A. 2017 Mar;173(3):771-775. doi: 10.1002/ajmg.a.38083. Am J Med Genet A. 2017. PMID: 28211972 Review.
A new antibiotic?
Au KS, Gray DE. Au KS, et al. Biochem Pharmacol. 1969 Oct;18(10):2673. doi: 10.1016/0006-2952(69)90198-1. Biochem Pharmacol. 1969. PMID: 4998132 No abstract available.
96 results