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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

486 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Diagnostic algorithms in Charcot-Marie-Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients.
Rudnik-Schöneborn S, Tölle D, Senderek J, Eggermann K, Elbracht M, Kornak U, von der Hagen M, Kirschner J, Leube B, Müller-Felber W, Schara U, von Au K, Wieczorek D, Bußmann C, Zerres K. Rudnik-Schöneborn S, et al. Among authors: wieczorek d. Clin Genet. 2016 Jan;89(1):34-43. doi: 10.1111/cge.12594. Epub 2015 Apr 29. Clin Genet. 2016. PMID: 25850958
Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature.
Hauer NN, Sticht H, Boppudi S, Büttner C, Kraus C, Trautmann U, Zenker M, Zweier C, Wiesener A, Jamra RA, Wieczorek D, Kelkel J, Jung AM, Uebe S, Ekici AB, Rohrer T, Reis A, Dörr HG, Thiel CT. Hauer NN, et al. Among authors: wieczorek d. Sci Rep. 2017 Sep 22;7(1):12225. doi: 10.1038/s41598-017-12465-6. Sci Rep. 2017. PMID: 28939912 Free PMC article.
A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype.
Zweier C, Kraus C, Brueton L, Cole T, Degenhardt F, Engels H, Gillessen-Kaesbach G, Graul-Neumann L, Horn D, Hoyer J, Just W, Rauch A, Reis A, Wollnik B, Zeschnigk M, Lüdecke HJ, Wieczorek D. Zweier C, et al. Among authors: wieczorek d. J Med Genet. 2013 Dec;50(12):838-47. doi: 10.1136/jmedgenet-2013-101918. Epub 2013 Oct 3. J Med Genet. 2013. PMID: 24092917
Loss-of-function variants in HIVEP2 are a cause of intellectual disability.
Srivastava S, Engels H, Schanze I, Cremer K, Wieland T, Menzel M, Schubach M, Biskup S, Kreiß M, Endele S, Strom TM, Wieczorek D, Zenker M, Gupta S, Cohen J, Zink AM, Naidu S. Srivastava S, et al. Among authors: wieczorek d. Eur J Hum Genet. 2016 Apr;24(4):556-61. doi: 10.1038/ejhg.2015.151. Epub 2015 Jul 8. Eur J Hum Genet. 2016. PMID: 26153216 Free PMC article.
Isolated PREPL deficiency associated with congenital myasthenic syndrome-22.
Laugwitz L, Redler S, Buchert R, Sturm M, Zeile I, Schara U, Wieczorek D, Haack T, Distelmaier F. Laugwitz L, et al. Among authors: wieczorek d. Klin Padiatr. 2018 Sep;230(5):281-283. doi: 10.1055/a-0605-3659. Epub 2018 Jun 18. Klin Padiatr. 2018. PMID: 29913539 English. No abstract available.
ANKRD11 variants: KBG syndrome and beyond.
Parenti I, Mallozzi MB, Hüning I, Gervasini C, Kuechler A, Agolini E, Albrecht B, Baquero-Montoya C, Bohring A, Bramswig NC, Busche A, Dalski A, Guo Y, Hanker B, Hellenbroich Y, Horn D, Innes AM, Leoni C, Li YR, Lynch SA, Mariani M, Medne L, Mikat B, Milani D, Onesimo R, Ortiz-Gonzalez X, Prott EC, Reutter H, Rossier E, Selicorni A, Wieacker P, Wilkens A, Wieczorek D, Zackai EH, Zampino G, Zirn B, Hakonarson H, Deardorff MA, Gillessen-Kaesbach G, Kaiser FJ. Parenti I, et al. Among authors: wieczorek d. Clin Genet. 2021 Aug;100(2):187-200. doi: 10.1111/cge.13977. Epub 2021 May 14. Clin Genet. 2021. PMID: 33955014 Free article.
486 results