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

Year Number of Results
2002 4
2003 1
2004 4
2005 1
2006 2
2007 4
2008 3
2010 4
2011 2
2012 5
2013 5
2014 4
2015 1
2016 4
2017 6
2018 2
2019 4
2020 5
2021 11
2022 7
2023 7
2024 3

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82 results

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Page 1
Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement.
Kline AD, Moss JF, Selicorni A, Bisgaard AM, Deardorff MA, Gillett PM, Ishman SL, Kerr LM, Levin AV, Mulder PA, Ramos FJ, Wierzba J, Ajmone PF, Axtell D, Blagowidow N, Cereda A, Costantino A, Cormier-Daire V, FitzPatrick D, Grados M, Groves L, Guthrie W, Huisman S, Kaiser FJ, Koekkoek G, Levis M, Mariani M, McCleery JP, Menke LA, Metrena A, O'Connor J, Oliver C, Pie J, Piening S, Potter CJ, Quaglio AL, Redeker E, Richman D, Rigamonti C, Shi A, Tümer Z, Van Balkom IDC, Hennekam RC. Kline AD, et al. Among authors: wierzba j. Nat Rev Genet. 2018 Oct;19(10):649-666. doi: 10.1038/s41576-018-0031-0. Nat Rev Genet. 2018. PMID: 29995837 Free PMC article. Review.
Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation.
Accogli A, Shakya S, Yang T, Insinna C, Kim SY, Bell D, Butov KR, Severino M, Niceta M, Scala M, Lee HS, Yoo T, Stauffer J, Zhao H, Fiorillo C, Pedemonte M, Diana MC, Baldassari S, Zakharova V, Shcherbina A, Rodina Y, Fagerberg C, Roos LS, Wierzba J, Dobosz A, Gerard A, Potocki L, Rosenfeld JA, Lalani SR, Scott TM, Scott D, Azamian MS, Louie R, Moore HW, Champaigne NL, Hollingsworth G, Torella A, Nigro V, Ploski R, Salpietro V, Zara F, Pizzi S, Chillemi G, Ognibene M, Cooney E, Do J, Linnemann A, Larsen MJ, Specht S, Walters KJ, Choi HJ, Choi M, Tartaglia M, Youkharibache P, Chae JH, Capra V, Park SG, Westlake CJ. Accogli A, et al. Among authors: wierzba j. Nat Commun. 2024 Jan 8;15(1):365. doi: 10.1038/s41467-023-44611-2. Nat Commun. 2024. PMID: 38191484 Free PMC article.
Down syndrome, increased risk of dementia and lipid disturbances.
Kłosowska A, Ćwiklińska A, Kuchta A, Berlińska A, Jankowski M, Wierzba J. Kłosowska A, et al. Among authors: wierzba j. Dev Period Med. 2017;21(1):69-73. doi: 10.34763/devperiodmed.20172101.6973. Dev Period Med. 2017. PMID: 28551695 Free PMC article. Review.
Clinical presentation of 13 children with alkaptonuria.
Kujawa MJ, Świętoń D, Wierzba J, Grzywińska M, Budziło O, Limanówka M, Pierzynowska K, Gaffke L, Grabowski Ł, Cyske Z, Rintz E, Rąbalski Ł, Kosiński M, Węgrzyn G, Mański A, Anikiej-Wiczenbach P, Ranganath L, Piskunowicz M. Kujawa MJ, et al. Among authors: wierzba j. J Inherit Metab Dis. 2023 Sep;46(5):916-930. doi: 10.1002/jimd.12647. Epub 2023 Jul 10. J Inherit Metab Dis. 2023. PMID: 37395296
Long-Term Efficacy of T3 Analogue Triac in Children and Adults With MCT8 Deficiency: A Real-Life Retrospective Cohort Study.
van Geest FS, Groeneweg S, van den Akker ELT, Bacos I, Barca D, van den Berg SAA, Bertini E, Brunner D, Brunetti-Pierri N, Cappa M, Cappuccio G, Chatterjee K, Chesover AD, Christian P, Coutant R, Craiu D, Crock P, Dewey C, Dica A, Dimitri P, Dubey R, Enderli A, Fairchild J, Gallichan J, Garibaldi LR, George B, Hackenberg A, Heinrich B, Huynh T, Kłosowska A, Lawson-Yuen A, Linder-Lucht M, Lyons G, Monti Lora F, Moran C, Müller KE, Paone L, Paul PG, Polak M, Porta F, Reinauer C, de Rijke YB, Seckold R, Menevşe TS, Simm P, Simon A, Spada M, Stoupa A, Szeifert L, Tonduti D, van Toor H, Turan S, Vanderniet J, de Waart M, van der Wal R, van der Walt A, van Wermeskerken AM, Wierzba J, Zibordi F, Zung A, Peeters RP, Visser WE. van Geest FS, et al. Among authors: wierzba j. J Clin Endocrinol Metab. 2022 Feb 17;107(3):e1136-e1147. doi: 10.1210/clinem/dgab750. J Clin Endocrinol Metab. 2022. PMID: 34679181 Free PMC article.
WDR13: A Novel Gene Implicated in Non-Syndromic Intellectual Disability.
Rzońca-Niewczas S, Wierzba J, Kaczorowska E, Poryszewska M, Kosińska J, Stawiński P, Płoski R, Bal J. Rzońca-Niewczas S, et al. Among authors: wierzba j. Genes (Basel). 2021 Nov 28;12(12):1911. doi: 10.3390/genes12121911. Genes (Basel). 2021. PMID: 34946860 Free PMC article.
Syndromic neurodevelopmental disorder associated with de novo variants in DDX23.
Burns W, Bird LM, Heron D, Keren B, Ramachandra D, Thiffault I, Del Viso F, Amudhavalli S, Engleman K, Parenti I, Kaiser FJ, Wierzba J, Riedhammer KM, Liptay S, Zadeh N, Porrmann J, Fischer A, Gößwein S, McLaughlin HM, Telegrafi A, Langley KG, Steet R, Louie RJ, Lyons MJ. Burns W, et al. Among authors: wierzba j. Am J Med Genet A. 2021 Oct;185(10):2863-2872. doi: 10.1002/ajmg.a.62359. Epub 2021 May 29. Am J Med Genet A. 2021. PMID: 34050707
82 results