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

Year Number of Results
2004 1
2006 2
2007 5
2008 2
2009 2
2010 2
2011 1
2012 4
2013 2
2014 3
2015 6
2016 5
2017 2
2018 3
2019 10
2020 15
2021 22
2022 15
2023 10
2024 3

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100 results

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Page 1
Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP.
Van Dijck A, Vulto-van Silfhout AT, Cappuyns E, van der Werf IM, Mancini GM, Tzschach A, Bernier R, Gozes I, Eichler EE, Romano C, Lindstrand A, Nordgren A; ADNP Consortium; Kvarnung M, Kleefstra T, de Vries BBA, Küry S, Rosenfeld JA, Meuwissen ME, Vandeweyer G, Kooy RF. Van Dijck A, et al. Biol Psychiatry. 2019 Feb 15;85(4):287-297. doi: 10.1016/j.biopsych.2018.02.1173. Epub 2018 Mar 15. Biol Psychiatry. 2019. PMID: 29724491 Free PMC article.
Editorial.
Jezela-Stanek A. Jezela-Stanek A. J Mother Child. 2021 Oct 11;25(1):1. doi: 10.34763/jmotherandchild.20212501.edit.2021_25_01. J Mother Child. 2021. PMID: 34643349 Free PMC article. No abstract available.
Editorial.
Jezela-Stanek A. Jezela-Stanek A. J Mother Child. 2022 Sep 2;25(4):243. doi: 10.34763/jmotherandchild.20212504.edit.2021_25_04. eCollection 2021 Dec 1. J Mother Child. 2022. PMID: 36047172 Free PMC article. No abstract available.
Editorial: Inherited Protein Glycosylation Defects in Humans.
Jezela-Stanek A, Stepien KM, Tylki-Szymanska A. Jezela-Stanek A, et al. Front Genet. 2022 Mar 14;13:851438. doi: 10.3389/fgene.2022.851438. eCollection 2022. Front Genet. 2022. PMID: 35368693 Free PMC article. No abstract available.
Interstitial Lung Disease in Rare Congenital Syndromes.
Jezela-Stanek A. Jezela-Stanek A. J Mother Child. 2020 Jul 29;24(1):47-52. doi: 10.34763/jmotherandchild.2020241.1931.000004. J Mother Child. 2020. PMID: 33074183 Free PMC article. Review.
Lessons learned from 40 novel PIGA patients and a review of the literature.
Bayat A, Knaus A, Pendziwiat M, Afenjar A, Barakat TS, Bosch F, Callewaert B, Calvas P, Ceulemans B, Chassaing N, Depienne C, Endziniene M, Ferreira CR, Moura de Souza CF, Freihuber C, Ganesan S, Gataullina S, Guerrini R, Guerrot AM, Hansen L, Jezela-Stanek A, Karsenty C, Kievit A, Kooy FR, Korff CM, Kragh Hansen J, Larsen M, Layet V, Lesca G, McBride KL, Meuwissen M, Mignot C, Montomoli M, Moore H, Naudion S, Nava C, Nougues MC, Parrini E, Pastore M, Schelhaas JH, Skinner S, Szczałuba K, Thomas A, Thomassen M, Tranebjaerg L, van Slegtenhorst M, Wolfe LA, Lal D, Gardella E, Bomme Ousager L, Brünger T, Helbig I, Krawitz P, Møller RS. Bayat A, et al. Among authors: jezela stanek a. Epilepsia. 2020 Jun;61(6):1142-1155. doi: 10.1111/epi.16545. Epub 2020 May 26. Epilepsia. 2020. PMID: 32452540 Review.
Expanding the Knowledge of KIF1A-Dependent Disorders to a Group of Polish Patients.
Paprocka J, Jezela-Stanek A, Śmigiel R, Walczak A, Mierzewska H, Kutkowska-Kaźmierczak A, Płoski R, Emich-Widera E, Steinborn B. Paprocka J, et al. Among authors: jezela stanek a. Genes (Basel). 2023 Apr 25;14(5):972. doi: 10.3390/genes14050972. Genes (Basel). 2023. PMID: 37239332 Free PMC article.
100 results