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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2021 | 1 |
2023 | 1 |
2024 | 1 |
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Page 1
Splicing defects in rare diseases: transcriptomics and machine learning strategies towards genetic diagnosis.
Brief Bioinform. 2023 Sep 20;24(5):bbad284. doi: 10.1093/bib/bbad284.
Brief Bioinform. 2023.
PMID: 37580177
Free PMC article.
Review.
Manifestations and Management of Hepatic Dysfunction in Congenital Disorders of Glycosylation.
Johnsen C, Edmondson AC.
Johnsen C, et al.
Clin Liver Dis (Hoboken). 2021 Sep 19;18(2):54-66. doi: 10.1002/cld.1105. eCollection 2021 Aug.
Clin Liver Dis (Hoboken). 2021.
PMID: 34584669
Free PMC article.
Review.
No abstract available.
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A complement C4-derived glycopeptide is a biomarker for PMM2-CDG.
Garapati K, Budhraja R, Saraswat M, Kim J, Joshi N, Sachdeva GS, Jain A, Ligezka AN, Radenkovic S, Ramarajan MG, Udainiya S, Raymond K, He M, Lam C, Larson A, Edmondson AC, Sarafoglou K, Larson NB, Freeze HH, Schultz MJ, Kozicz T, Morava E, Pandey A.
Garapati K, et al.
JCI Insight. 2024 Apr 8;9(7):e172509. doi: 10.1172/jci.insight.172509.
JCI Insight. 2024.
PMID: 38587076
Free PMC article.
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