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

Year Number of Results
2002 9
2003 9
2004 15
2005 24
2006 24
2007 22
2008 32
2009 19
2010 33
2011 54
2012 34
2013 46
2014 54
2015 52
2016 61
2017 68
2018 53
2019 68
2020 62
2021 68
2022 45
2023 45
2024 10

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797 results

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Page 1
Improving newborn screening test performance for metachromatic leukodystrophy: Recommendation from a pre-pilot study that identified a late-infantile case for treatment.
Wu THY, Brown HA, Church HJ, Kershaw CJ, Hutton R, Egerton C, Cooper J, Tylee K, Cohen RN, Gokhale D, Ram D, Morton G, Henderson M, Bigger BW, Jones SA. Wu THY, et al. Among authors: jones sa. Mol Genet Metab. 2024 Feb 20;142(1):108349. doi: 10.1016/j.ymgme.2024.108349. Online ahead of print. Mol Genet Metab. 2024. PMID: 38458124 Free article.
Evaluating Large Language Models in Extracting Cognitive Exam Dates and Scores.
Zhang H, Jethani N, Jones S, Genes N, Major VJ, Jaffe IS, Cardillo AB, Heilenbach N, Ali NF, Bonanni LJ, Clayburn AJ, Khera Z, Sadler EC, Prasad J, Schlacter J, Liu K, Silva B, Montgomery S, Kim EJ, Lester J, Hill TM, Avoricani A, Chervonski E, Davydov J, Small W, Chakravartty E, Grover H, Dodson JA, Brody AA, Aphinyanaphongs Y, Masurkar A, Razavian N. Zhang H, et al. Among authors: jones s. medRxiv [Preprint]. 2024 Feb 13:2023.07.10.23292373. doi: 10.1101/2023.07.10.23292373. medRxiv. 2024. PMID: 38405784 Free PMC article. Preprint.
Trial of N-Acetyl-l-Leucine in Niemann-Pick Disease Type C.
Bremova-Ertl T, Ramaswami U, Brands M, Foltan T, Gautschi M, Gissen P, Gowing F, Hahn A, Jones S, Kay R, Kolnikova M, Arash-Kaps L, Marquardt T, Mengel E, Park JH, Reichmannová S, Schneider SA, Sivananthan S, Walterfang M, Wibawa P, Strupp M, Martakis K. Bremova-Ertl T, et al. Among authors: jones s. N Engl J Med. 2024 Feb 1;390(5):421-431. doi: 10.1056/NEJMoa2310151. N Engl J Med. 2024. PMID: 38294974 Clinical Trial.
Synaptic density affects clinical severity via network dysfunction in syndromes associated with frontotemporal lobar degeneration.
Whiteside DJ, Holland N, Tsvetanov KA, Mak E, Malpetti M, Savulich G, Jones PS, Naessens M, Rouse MA, Fryer TD, Hong YT, Aigbirhio FI, Mulroy E, Bhatia KP, Rittman T, O'Brien JT, Rowe JB. Whiteside DJ, et al. Among authors: jones ps. Nat Commun. 2023 Dec 20;14(1):8458. doi: 10.1038/s41467-023-44307-7. Nat Commun. 2023. PMID: 38114493 Free PMC article.
797 results