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

Text availability

Article attribute

Article type

Publication date

Search Results

94 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Analysis of the Phenotypes in the Rett Networked Database.
Frullanti E, Papa FT, Grillo E, Clarke A, Ben-Zeev B, Pineda M, Bahi-Buisson N, Bienvenu T, Armstrong J, Roche Martinez A, Mari F, Nissenkorn A, Lo Rizzo C, Veneselli E, Russo S, Vignoli A, Pini G, Djuric M, Bisgaard AM, Ravn K, Bosnjak VM, Hayek J, Khajuria R, Montomoli B, Cogliati F, Pintaudi M, Hadzsiev K, Craiu D, Voinova V, Djukic A, Villard L, Renieri A. Frullanti E, et al. Among authors: hadzsiev k. Int J Genomics. 2019 Mar 27;2019:6956934. doi: 10.1155/2019/6956934. eCollection 2019. Int J Genomics. 2019. PMID: 31049350 Free PMC article.
[Neurofibromatosis-1 microdeletion syndrome.].
Büki G, Till Á, Zsigmond A, Bene J, Hadzsiev K. Büki G, et al. Among authors: hadzsiev k. Orv Hetil. 2022 Dec 18;163(51):2041-2051. doi: 10.1556/650.2022.32673. Print 2022 Dec 18. Orv Hetil. 2022. PMID: 36528827 Review. Hungarian.
The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome.
Schönewolf-Greulich B, Tejada MI, Stephens K, Hadzsiev K, Gauthier J, Brøndum-Nielsen K, Pfundt R, Ravn K, Maortua H, Gener B, Martínez-Bouzas C, Piton A, Rouleau G, Clayton-Smith J, Kleefstra T, Bisgaard AM, Tümer Z. Schönewolf-Greulich B, et al. Among authors: hadzsiev k. Clin Genet. 2016 Jun;89(6):733-8. doi: 10.1111/cge.12769. Epub 2016 Apr 8. Clin Genet. 2016. PMID: 26936630
Copy Number Variations in Neuropsychiatric Disorders.
Büki G, Hadzsiev K, Bene J. Büki G, et al. Among authors: hadzsiev k. Int J Mol Sci. 2023 Sep 5;24(18):13671. doi: 10.3390/ijms241813671. Int J Mol Sci. 2023. PMID: 37761973 Free PMC article. Review.
Mutational spectrum of smith-lemli-opitz syndrome patients in hungary.
Balogh I, Koczok K, Szabó GP, Török O, Hadzsiev K, Csábi G, Balogh L, Dzsudzsák E, Ajzner E, Szabó L, Csákváry V, Oláh AV. Balogh I, et al. Among authors: hadzsiev k. Mol Syndromol. 2012 Nov;3(5):215-22. doi: 10.1159/000343923. Epub 2012 Nov 9. Mol Syndromol. 2012. PMID: 23293579 Free PMC article.
94 results