Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

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

Year Number of Results
1993 2
1994 1
1999 1
2000 1
2001 1
2003 2
2004 2
2005 4
2006 4
2007 4
2008 6
2009 7
2010 11
2011 5
2012 7
2013 8
2014 13
2015 8
2016 5
2017 13
2018 19
2019 15
2020 16
2021 13
2022 12
2023 7
2024 2

Text availability

Article attribute

Article type

Publication date

Search Results

155 results

Results by year

Filters applied: . Clear all
Page 1
Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders.
Fischer-Zirnsak B, Segebrecht L, Schubach M, Charles P, Alderman E, Brown K, Cadieux-Dion M, Cartwright T, Chen Y, Costin C, Fehr S, Fitzgerald KM, Fleming E, Foss K, Ha T, Hildebrand G, Horn D, Liu S, Marco EJ, McDonald M, McWalter K, Race S, Rush ET, Si Y, Saunders C, Slavotinek A, Stockler-Ipsiroglu S, Telegrafi A, Thiffault I, Torti E, Tsai AC, Wang X, Zafar M, Keren B, Kornak U, Boerkoel CF, Mirzaa G, Ehmke N. Fischer-Zirnsak B, et al. Among authors: kornak u. Am J Hum Genet. 2019 Sep 5;105(3):631-639. doi: 10.1016/j.ajhg.2019.07.002. Epub 2019 Jul 25. Am J Hum Genet. 2019. PMID: 31353024 Free PMC article.
ATP6V0A2-Related Cutis Laxa.
Van Maldergem L, Dobyns W, Kornak U. Van Maldergem L, et al. Among authors: kornak u. 2009 Mar 19 [updated 2023 Mar 16]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2009 Mar 19 [updated 2023 Mar 16]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301755 Free Books & Documents. Review.
CLCN7-Related Osteopetrosis.
Sobacchi C, Villa A, Schulz A, Kornak U. Sobacchi C, et al. Among authors: kornak u. 2007 Feb 12 [updated 2022 Jan 20]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2007 Feb 12 [updated 2022 Jan 20]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301306 Free Books & Documents. Review.
Single-cell, whole-embryo phenotyping of mammalian developmental disorders.
Huang X, Henck J, Qiu C, Sreenivasan VKA, Balachandran S, Amarie OV, Hrabě de Angelis M, Behncke RY, Chan WL, Despang A, Dickel DE, Duran M, Feuchtinger A, Fuchs H, Gailus-Durner V, Haag N, Hägerling R, Hansmeier N, Hennig F, Marshall C, Rajderkar S, Ringel A, Robson M, Saunders LM, da Silva-Buttkus P, Spielmann N, Srivatsan SR, Ulferts S, Wittler L, Zhu Y, Kalscheuer VM, Ibrahim DM, Kurth I, Kornak U, Visel A, Pennacchio LA, Beier DR, Trapnell C, Cao J, Shendure J, Spielmann M. Huang X, et al. Among authors: kornak u. Nature. 2023 Nov;623(7988):772-781. doi: 10.1038/s41586-023-06548-w. Epub 2023 Nov 15. Nature. 2023. PMID: 37968388 Free PMC article.
Congenital disorders of glycosylation (CDG): Quo vadis?
Péanne R, de Lonlay P, Foulquier F, Kornak U, Lefeber DJ, Morava E, Pérez B, Seta N, Thiel C, Van Schaftingen E, Matthijs G, Jaeken J. Péanne R, et al. Among authors: kornak u. Eur J Med Genet. 2018 Nov;61(11):643-663. doi: 10.1016/j.ejmg.2017.10.012. Epub 2017 Oct 25. Eur J Med Genet. 2018. PMID: 29079546 Free article. Review.
The enhancer landscape predetermines the skeletal regeneration capacity of stromal cells.
Hochmann S, Ou K, Poupardin R, Mittermeir M, Textor M, Ali S, Wolf M, Ellinghaus A, Jacobi D, Elmiger JAJ, Donsante S, Riminucci M, Schäfer R, Kornak U, Klein O, Schallmoser K, Schmidt-Bleek K, Duda GN, Polansky JK, Geissler S, Strunk D. Hochmann S, et al. Among authors: kornak u. Sci Transl Med. 2023 Mar 22;15(688):eabm7477. doi: 10.1126/scitranslmed.abm7477. Epub 2023 Mar 22. Sci Transl Med. 2023. PMID: 36947595
[Osteoimmunology-IMMUNOBONE : Regulation of bone by inflammation].
Rauner M, Buttgereit F, Distler J, Garbe AI, Herrmann M, Hofbauer L, Hoffmann M, Jessberger R, Kornak U, Krönke G, Mundlos S, Spies C, Tuckermann J, Zwerina J. Rauner M, et al. Among authors: kornak u. Z Rheumatol. 2018 May;77(Suppl 1):12-15. doi: 10.1007/s00393-018-0455-0. Z Rheumatol. 2018. PMID: 29691689 Review. German. No abstract available.
Response to "Letter to the editor".
Kornak U. Kornak U. Bone. 2019 Nov;128:115065. doi: 10.1016/j.bone.2019.115065. Epub 2019 Sep 24. Bone. 2019. PMID: 31561010 No abstract available.
155 results