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

Year Number of Results
2004 1
2005 1
2011 1
2012 2
2013 1
2014 4
2015 5
2016 3
2017 2
2018 4
2019 2
2020 1
2021 6
2022 9
2023 8
2024 1

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47 results

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Page 1
KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.
Kennedy J, Goudie D, Blair E, Chandler K, Joss S, McKay V, Green A, Armstrong R, Lees M, Kamien B, Hopper B, Tan TY, Yap P, Stark Z, Okamoto N, Miyake N, Matsumoto N, Macnamara E, Murphy JL, McCormick E, Hakonarson H, Falk MJ, Li D, Blackburn P, Klee E, Babovic-Vuksanovic D, Schelley S, Hudgins L, Kant S, Isidor B, Cogne B, Bradbury K, Williams M, Patel C, Heussler H, Duff-Farrier C, Lakeman P, Scurr I, Kini U, Elting M, Reijnders M, Schuurs-Hoeijmakers J, Wafik M, Blomhoff A, Ruivenkamp CAL, Nibbeling E, Dingemans AJM, Douine ED, Nelson SF; DDD Study,; Hempel M, Bierhals T, Lessel D, Johannsen J, Arboleda VA, Newbury-Ecob R. Kennedy J, et al. Among authors: arboleda va. Genet Med. 2019 Apr;21(4):850-860. doi: 10.1038/s41436-018-0259-2. Epub 2018 Sep 24. Genet Med. 2019. PMID: 30245513 Free PMC article.
An Overview of DNA Analytical Methods.
Arboleda VA, Xian RR. Arboleda VA, et al. Methods Mol Biol. 2019;1897:385-402. doi: 10.1007/978-1-4939-8935-5_31. Methods Mol Biol. 2019. PMID: 30539459 Review.
Disease risk and healthcare utilization among ancestrally diverse groups in the Los Angeles region.
Caggiano C, Boudaie A, Shemirani R, Mefford J, Petter E, Chiu A, Ercelen D, He R, Tward D, Paul KC, Chang TS, Pasaniuc B, Kenny EE, Shortt JA, Gignoux CR, Balliu B, Arboleda VA, Belbin G, Zaitlen N. Caggiano C, et al. Among authors: arboleda va. Nat Med. 2023 Jul;29(7):1845-1856. doi: 10.1038/s41591-023-02425-1. Epub 2023 Jul 18. Nat Med. 2023. PMID: 37464048
Whole-Exome Sequencing Identifies Homozygote Nonsense Variants in LMOD2 Gene Causing Infantile Dilated Cardiomyopathy.
Sono R, Larrinaga TM, Huang A, Makhlouf F, Kang X, Su J, Lau R, Arboleda VA, Biniwale R, Fishbein GA, Khanlou N, Si MS, Satou GM, Halnon N, Ucla Congenital Heart Defects-BioCore Faculty, Van Arsdell GS, Gregorio CC, Nelson S, Touma M. Sono R, et al. Among authors: arboleda va. Cells. 2023 May 23;12(11):1455. doi: 10.3390/cells12111455. Cells. 2023. PMID: 37296576 Free PMC article.
47 results