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

72 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis.
Balogh E, Chandler JC, Varga M, Tahoun M, Menyhárd DK, Schay G, Goncalves T, Hamar R, Légrádi R, Szekeres Á, Gribouval O, Kleta R, Stanescu H, Bockenhauer D, Kerti A, Williams H, Kinsler V, Di WL, Curtis D, Kolatsi-Joannou M, Hammid H, Szőcs A, Perczel K, Maka E, Toldi G, Sava F, Arrondel C, Kardos M, Fintha A, Hossain A, D'Arco F, Kaliakatsos M, Koeglmeier J, Mifsud W, Moosajee M, Faro A, Jávorszky E, Rudas G, Saied MH, Marzouk S, Kelen K, Götze J, Reusz G, Tulassay T, Dragon F, Mollet G, Motameny S, Thiele H, Dorval G, Nürnberg P, Perczel A, Szabó AJ, Long DA, Tomita K, Antignac C, Waters AM, Tory K. Balogh E, et al. Among authors: rudas g. Proc Natl Acad Sci U S A. 2020 Jun 30;117(26):15137-15147. doi: 10.1073/pnas.2002328117. Epub 2020 Jun 17. Proc Natl Acad Sci U S A. 2020. PMID: 32554502 Free PMC article.
Broadening the phenotype of the TWNK gene associated Perrault syndrome.
Fekete B, Pentelényi K, Rudas G, Gál A, Grosz Z, Illés A, Idris J, Csukly G, Domonkos A, Molnar MJ. Fekete B, et al. Among authors: rudas g. BMC Med Genet. 2019 Dec 18;20(1):198. doi: 10.1186/s12881-019-0934-4. BMC Med Genet. 2019. PMID: 31852434 Free PMC article.
What can DTI tell about early cognitive impairment? - Differentiation between MCI subtypes and healthy controls by diffusion tensor imaging.
Gyebnár G, Szabó Á, Sirály E, Fodor Z, Sákovics A, Salacz P, Hidasi Z, Csibri É, Rudas G, Kozák LR, Csukly G. Gyebnár G, et al. Among authors: rudas g. Psychiatry Res Neuroimaging. 2018 Feb 28;272:46-57. doi: 10.1016/j.pscychresns.2017.10.007. Epub 2017 Oct 31. Psychiatry Res Neuroimaging. 2018. PMID: 29126669
72 results