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

Year Number of Results
2002 4
2003 11
2004 6
2005 6
2006 6
2007 5
2008 7
2009 10
2010 5
2011 10
2012 8
2013 8
2014 9
2015 7
2016 9
2017 13
2018 7
2019 6
2020 1
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2022 8
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2024 3

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141 results

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Page 1
Lipodystrophy in methylmalonic acidemia associated with elevated FGF21 and abnormal methylmalonylation.
Manoli I, Sysol JR, Head PE, Epping MW, Gavrilova O, Crocker MK, Sloan JL, Koutsoukos SA, Wang C, Ktena YP, Mendelson S, Pass AR, Zerfas PM, Hoffmann V, Vernon HJ, Fletcher LA, Reynolds JC, Tsokos MG, Stratakis CA, Voss SD, Chen KY, Brown RJ, Hamosh A, Berry GT, Chen XS, Yanovski JA, Venditti CP. Manoli I, et al. Among authors: reynolds jc. JCI Insight. 2024 Feb 22;9(4):e174097. doi: 10.1172/jci.insight.174097. JCI Insight. 2024. PMID: 38271099 Free PMC article.
Visualization of exhaled breath metabolites reveals distinct diagnostic signatures for acute cardiorespiratory breathlessness.
Ibrahim W, Wilde MJ, Cordell RL, Richardson M, Salman D, Free RC, Zhao B, Singapuri A, Hargadon B, Gaillard EA, Suzuki T, Ng LL, Coats T, Thomas P, Monks PS, Brightling CE, Greening NJ, Siddiqui S; EMBER Consortium; Munton R, Le Quesne J, Goodall AH, Pandya HC, Reynolds JC, Clokie MRJ, Samani NJ, Barer MR, Shaw JA. Ibrahim W, et al. Among authors: reynolds jc. Sci Transl Med. 2022 Nov 16;14(671):eabl5849. doi: 10.1126/scitranslmed.abl5849. Epub 2022 Nov 16. Sci Transl Med. 2022. PMID: 36383685 Free PMC article.
Debilitating hip degeneration in trichothiodystrophy: Association with ERCC2/XPD mutations, osteosclerosis, osteopenia, coxa valga, contractures, and osteonecrosis.
DiGiovanna JJ, Randall G, Edelman A, Allawh R, Xiong M, Tamura D, Khan SG, Rizza ERH, Reynolds JC, Paul SM, Hill SC, Kraemer KH. DiGiovanna JJ, et al. Among authors: reynolds jc. Am J Med Genet A. 2022 Dec;188(12):3448-3462. doi: 10.1002/ajmg.a.62962. Epub 2022 Sep 14. Am J Med Genet A. 2022. PMID: 36103153 Free PMC article.
Fracture Risk in Pediatric Patients With MEN2B.
Li I, Hartley IR, Klubo-Gwiedzdzinska J, Reynolds JC, Thomas BJ, Hogan J, Enyew MM, Dombi E, Ling A, Akshintala S, Venzon DJ, Del Rivero J, Collins M, Glod JW. Li I, et al. Among authors: reynolds jc. J Clin Endocrinol Metab. 2022 Nov 25;107(12):e4371-e4378. doi: 10.1210/clinem/dgac500. J Clin Endocrinol Metab. 2022. PMID: 36056624 Free PMC article.
Gastrointestinal Features of 22q11.2 Deletion Syndrome Include Chronic Motility Problems From Childhood to Adulthood.
Kotcher RE, Chait DB, Heckert JM, Crowley TB, Forde KA, Ahuja NK, Mascarenhas MR, Emanuel BS, Zackai EH, McDonald-McGinn DM, Reynolds JC. Kotcher RE, et al. Among authors: reynolds jc. J Pediatr Gastroenterol Nutr. 2022 Aug 1;75(2):e8-e14. doi: 10.1097/MPG.0000000000003491. Epub 2022 Jun 1. J Pediatr Gastroenterol Nutr. 2022. PMID: 35641891 Free PMC article.
141 results