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

16 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Epileptic spasms with terror during sleep in CDKL5 encephalopathy.
Melikishvili G, Sharkov A, Gachechiladze T, Tomenko T, Pivovarova A, Volkov I, Andrade MT, Castellanos A, Bienvenu T, Dulac O, Roisman G, Gataullina S. Melikishvili G, et al. Sleep Adv. 2022 Apr 20;3(1):zpac010. doi: 10.1093/sleepadvances/zpac010. eCollection 2022. Sleep Adv. 2022. PMID: 37193389 Free PMC article.
De Novo Large Deletion Leading to Fragile X Syndrome.
Jiraanont P, Manor E, Tabatadze N, Zafarullah M, Mendoza G, Melikishvili G, Tassone F. Jiraanont P, et al. Among authors: melikishvili g. Front Genet. 2022 May 11;13:884424. doi: 10.3389/fgene.2022.884424. eCollection 2022. Front Genet. 2022. PMID: 35646065 Free PMC article.
Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration.
Schaffer AE, Breuss MW, Caglayan AO, Al-Sanaa N, Al-Abdulwahed HY, Kaymakçalan H, Yılmaz C, Zaki MS, Rosti RO, Copeland B, Baek ST, Musaev D, Scott EC, Ben-Omran T, Kariminejad A, Kayserili H, Mojahedi F, Kara M, Cai N, Silhavy JL, Elsharif S, Fenercioglu E, Barshop BA, Kara B, Wang R, Stanley V, James KN, Nachnani R, Kalur A, Megahed H, Incecik F, Danda S, Alanay Y, Faqeih E, Melikishvili G, Mansour L, Miller I, Sukhudyan B, Chelly J, Dobyns WB, Bilguvar K, Jamra RA, Gunel M, Gleeson JG. Schaffer AE, et al. Among authors: melikishvili g. Nat Genet. 2018 Aug;50(8):1093-1101. doi: 10.1038/s41588-018-0166-0. Epub 2018 Jul 16. Nat Genet. 2018. PMID: 30013181 Free PMC article.
EXPANDED PHENOTYPE OF TMEM67 GENE MUTATION (CASE REPORT).
Tkemaladze T, Melikishvili G, Kherkheulidze V, Melikishvili A, Davitaia T. Tkemaladze T, et al. Among authors: melikishvili a, melikishvili g. Georgian Med News. 2017 Jun;(267):100-103. Georgian Med News. 2017. PMID: 28726664
SSR4-CDG, an ultra-rare X-linked congenital disorder of glycosylation affecting the TRAP complex: Review of 22 affected individuals including the first adult patient.
Johnsen C, Tabatadze N, Radenkovic S, Botzo G, Kuschel B, Melikishvili G, Morava E. Johnsen C, et al. Among authors: melikishvili g. Mol Genet Metab. 2024 Apr 18;142(3):108477. doi: 10.1016/j.ymgme.2024.108477. Online ahead of print. Mol Genet Metab. 2024. PMID: 38805916 Free article. Review.
Risk of meningomyelocele mediated by the common 22q11.2 deletion.
Vong KI, Lee S, Au KS, Crowley TB, Capra V, Martino J, Haller M, Araújo C, Machado HR, George R, Gerding B, James KN, Stanley V, Jiang N, Alu K, Meave N, Nidhiry AS, Jiwani F, Tang I, Nisal A, Jhamb I, Patel A, Patel A, McEvoy-Venneri J, Barrows C, Shen C, Ha YJ, Howarth R, Strain M, Ashley-Koch AE, Azam M, Mumtaz S, Bot GM, Finnell RH, Kibar Z, Marwan AI, Melikishvili G, Meltzer HS, Mutchinick OM, Stevenson DA, Mroczkowski HJ, Ostrander B, Schindewolf E, Moldenhauer J, Zackai EH, Emanuel BS, Garcia-Minaur S, Nowakowska BA, Stevenson RE, Zaki MS, Northrup H, McNamara HK, Aldinger KA, Phelps IG, Deng M, Glass IA; Spina Bifida Sequencing Consortium‡; Morrow B, McDonald-McGinn DM, Sanna-Cherchi S, Lamb DJ, Gleeson JG. Vong KI, et al. Among authors: melikishvili g. Science. 2024 May 3;384(6695):584-590. doi: 10.1126/science.adl1624. Epub 2024 May 2. Science. 2024. PMID: 38696583
16 results