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

Year Number of Results
1993 1
2002 7
2003 7
2004 9
2005 4
2006 18
2007 11
2008 8
2009 12
2010 11
2011 21
2012 17
2013 15
2014 22
2015 13
2016 14
2017 19
2018 17
2019 17
2020 38
2021 44
2022 27
2023 40
2024 17

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349 results

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Page 1
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. Among authors: morava e. JCI Insight. 2024 Apr 8;9(7):e172509. doi: 10.1172/jci.insight.172509. JCI Insight. 2024. PMID: 38587076 Free article.
TRAPPC11-CDG muscular dystrophy: Review of 54 cases including a novel patient.
Corona-Rivera JR, Martínez-Duncker I, Morava E, Ranatunga W, Salinas-Marin R, González-Jaimes AM, Castillo-Reyes KA, Peña-Padilla C, Bobadilla-Morales L, Corona-Rivera A, Orozco-Vela M, Brukman-Jiménez SA. Corona-Rivera JR, et al. Among authors: morava e. Mol Genet Metab. 2024 Mar 28;142(1):108469. doi: 10.1016/j.ymgme.2024.108469. Online ahead of print. Mol Genet Metab. 2024. PMID: 38564972 Review.
Semiautomated approach focused on new genomic information results in time and effort-efficient reannotation of negative exome data.
Ferrer A, Duffy P, Olson RJ, Meiners MA, Schultz-Rogers L, Macke EL, Safgren S, Morales-Rosado JA, Cousin MA, Oliver GR, Rider D, Williams M, Pichurin PN, Deyle DR, Morava E, Gavrilova RH, Dhamija R, Wierenga KJ, Lanpher BC, Babovic-Vuksanovic D, Kaiwar C, Vitek CR, McAllister TM, Wick MJ, Schimmenti LA, Lazaridis KN, Vairo FPE, Klee EW. Ferrer A, et al. Among authors: morava e. Hum Genet. 2024 Mar 27. doi: 10.1007/s00439-024-02664-3. Online ahead of print. Hum Genet. 2024. PMID: 38538918
Neural and metabolic dysregulation in PMM2-deficient human in vitro neural models.
Radenkovic S, Budhraja R, Klein-Gunnewiek T, King AT, Bhatia TN, Ligezka AN, Driesen K, Shah R, Ghesquière B, Pandey A, Kasri NN, Sloan SA, Morava E, Kozicz T. Radenkovic S, et al. Among authors: morava e. Cell Rep. 2024 Mar 26;43(3):113883. doi: 10.1016/j.celrep.2024.113883. Epub 2024 Mar 1. Cell Rep. 2024. PMID: 38430517 Free article.
De novo variants in DENND5B cause a neurodevelopmental disorder.
Scala M, Tomati V, Ferla M, Lena M, Cohen JS, Fatemi A, Brokamp E, Bican A, Phillips JA 3rd, Koziura ME, Nicouleau M, Rio M, Siquier K, Boddaert N, Musante I, Tamburro S, Baldassari S, Iacomino M, Scudieri P; Undiagnosed Diseases Network; Rosenfeld JA, Bellus G, Reed S, Al Saif H, Russo RS, Walsh MB, Cantagrel V, Crunk A, Gustincich S, Ruggiero SM, Fitzgerald MP, Helbig I, Striano P, Severino M, Salpietro V, Pedemonte N, Zara F. Scala M, et al. Am J Hum Genet. 2024 Mar 7;111(3):529-543. doi: 10.1016/j.ajhg.2024.02.001. Epub 2024 Feb 21. Am J Hum Genet. 2024. PMID: 38387458 Free PMC article.
349 results