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Page 1
Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.
JAMA Neurol. 2022 Dec 1;79(12):1267-1276. doi: 10.1001/jamaneurol.2022.3651.
JAMA Neurol. 2022.
PMID: 36315135
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: burns k.
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.
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Diamond-Blackfan Anemia: A Case Report and Review of the Literature.
Dorn KM, Burns KD, Trout MAR, Ward DI, Wagner KJ, Meyer LR, Baack ML, Rodel RL.
Dorn KM, et al. Among authors: burns kd.
Neonatology. 2021;118(4):500-504. doi: 10.1159/000516030. Epub 2021 May 18.
Neonatology. 2021.
PMID: 34004602
Review.
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EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum.
Hüffmeier U, Kraus C, Reuter MS, Uebe S, Abbott MA, Ahmed SA, Rawson KL, Barr E, Li H, Bruel AL, Faivre L, Tran Mau-Them F, Botti C, Brooks S, Burns K, Ward DI, Dutra-Clarke M, Martinez-Agosto JA, Lee H, Nelson SF; UCLA California Center for Rare Disease; Zacher P, Abou Jamra R, Klöckner C, McGaughran J, Kohlhase J, Schuhmann S, Moran E, Pappas J, Raas-Rothschild A, Sacoto MJG, Henderson LB, Palculict TB, Mullegama SV, Zghal Elloumi H, Reich A, Schrier Vergano SA, Wahl E, Reis A, Zweier C.
Hüffmeier U, et al. Among authors: burns k.
Orphanet J Rare Dis. 2021 Mar 18;16(1):136. doi: 10.1186/s13023-021-01744-1.
Orphanet J Rare Dis. 2021.
PMID: 33736665
Free PMC article.
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The role of C-terminal ionic residues in self-association of apolipoprotein A-I.
Burdick JP, Basi RS, Burns KS, Weers PMM.
Burdick JP, et al. Among authors: burns ks.
Biochim Biophys Acta Biomembr. 2023 Feb;1865(2):184098. doi: 10.1016/j.bbamem.2022.184098. Epub 2022 Dec 6.
Biochim Biophys Acta Biomembr. 2023.
PMID: 36481181
Free article.
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The smallest likely pathogenic duplication of a SOX9 enhancer identified to date in a family with 46,XX testicular differences of sex development.
Sajan SA, Brown CM, Davis-Keppen L, Burns K, Royer E, Coleman JAC, Hilton BA, DuPont BR, Perry DL, Taft RJ, Kesari A.
Sajan SA, et al. Among authors: burns k.
Am J Med Genet A. 2023 Dec;191(12):2831-2836. doi: 10.1002/ajmg.a.63367. Epub 2023 Aug 8.
Am J Med Genet A. 2023.
PMID: 37551848
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Genetic counseling job market in the United States and Canada: An analysis of job advertisements 2014-2016.
Burns K, Swanson A, Hoskovec J, Leonhard J, Hahn S, Stein QP.
Burns K, et al.
J Genet Couns. 2019 Aug;28(4):869-877. doi: 10.1002/jgc4.1129. Epub 2019 May 6.
J Genet Couns. 2019.
PMID: 31058406
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