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

41 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition.
Brownstein CA, Towne MC, Luquette LJ, Harris DJ, Marinakis NS, Meinecke P, Kutsche K, Campeau PM, Yu TW, Margulies DM, Agrawal PB, Beggs AH. Brownstein CA, et al. Eur J Med Genet. 2013 Dec;56(12):678-82. doi: 10.1016/j.ejmg.2013.09.009. Epub 2013 Oct 28. Eur J Med Genet. 2013. PMID: 24176758 Free PMC article.
Estimating at-risk couple rates across 1000 exome sequencing data cohort for 176 genes and its importance relevance for health policies.
Marinakis NM, Tilemis FN, Veltra D, Svingou M, Sofocleous C, Kekou K, Kosma K, Kampouraki A, Kontse C, Fylaktou I, Sertedaki A, Kanaka-Gantenbein C, Traeger-Synodinos J, Makrythanasis P. Marinakis NM, et al. Eur J Hum Genet. 2025 Jan;33(1):65-71. doi: 10.1038/s41431-024-01726-4. Epub 2024 Nov 2. Eur J Hum Genet. 2025. PMID: 39488673
ENaC gene variants and their involvement in Covid‑19 severity.
Koniari E, Hatziagapiou K, Nikola AO, Georgoulia K, Marinakis N, Bakakos P, Athanasopoulou A, Koromilias A, Rovina N, Efthymiou V, Papakonstantinou E, Vlachakis D, Mavrikou S, Koutsoukou A, Traeger-Synodinos J, Chrousos GP. Koniari E, et al. Among authors: marinakis n. Biomed Rep. 2024 Sep 25;21(6):176. doi: 10.3892/br.2024.1864. eCollection 2024 Dec. Biomed Rep. 2024. PMID: 39355526 Free PMC article.
Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders.
Cali E, Quirin T, Rocca C, Efthymiou S, Riva A, Marafi D, Zaki MS, Suri M, Dominguez R, Elbendary HM, Alavi S, Abdel-Hamid MS, Morsy H, Mau-Them FT, Nizon M, Tesner P, Ryba L, Zafar F, Rana N, Saadi NW, Firoozfar Z, Gencpinar P, Unay B, Ustun C, Bruel AL, Coubes C, Stefanich J, Sezer O, Agolini E, Novelli A, Vasco G, Lettori D, Milh M, Villard L, Zeidler S, Opperman H, Strehlow V, Issa MY, El Khassab H, Chand P, Ibrahim S, Nejad-Rashidi A, Miryounesi M, Larki P, Morrison J, Cristian I, Thiffault I, Bertsch NL, Noh GJ, Pappas J, Moran E, Marinakis NM, Traeger-Synodinos J, Hosseini S, Abbaszadegan MR, Caumes R, Vissers LELM, Neshatdoust M, Montazer MZ, El Fahime E, Canavati C, Kamal L, Kanaan M, Askander O, Voinova V, Levchenko O, Haider S, Halbach SS, Maia ER, Mansoor S, Vivek J, Tawde S, Santhosh R Challa V, Gowda VK, Srinivasan VM, Victor LA, Pinero-Banos B, Hague J, Ei-Awady HA, Maria de Miranda Henriques-Souza A, Cheema HA, Anjum MN, Idkaidak S, Alqarajeh F, Atawneh O, Mor-Shaked H, Harel T, Zifarelli G, Bauer P, Kok F, Kitajima JP, Monteiro F, Josahkian J, Lesca G, Chatron N, Ville D, Murphy D, Neul JL, Mullegama SV, Begtrup A, Herman I, Mitani T, Posey JE, Tay CG, Jave… See abstract for full author list ➔ Cali E, et al. Among authors: marinakis nm. Genet Med. 2024 Sep 10:101251. doi: 10.1016/j.gim.2024.101251. Online ahead of print. Genet Med. 2024. PMID: 39275948 Free article.
Alport Syndrome: Clinical Utility of Early Genetic Diagnosis in Children.
Christodoulaki V, Kosma K, Marinakis NM, Tilemis FN, Stergiou N, Kampouraki A, Kapogiannis C, Karava V, Mitsioni A, Mila M, Kanaka-Gantenbein C, Makrythanasis P, Tzetis M, Traeger-Synodinos J. Christodoulaki V, et al. Among authors: marinakis nm. Genes (Basel). 2024 Aug 2;15(8):1016. doi: 10.3390/genes15081016. Genes (Basel). 2024. PMID: 39202375 Free PMC article.
Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.
Layo-Carris DE, Lubin EE, Sangree AK, Clark KJ, Durham EL, Gonzalez EM, Smith S, Angireddy R, Wang XM, Weiss E, Toutain A, Mendoza-Londono R, Dupuis L, Damseh N, Velasco D, Valenzuela I, Codina-Solà M, Ziats C, Have J, Clarkson K, Steel D, Kurian M, Barwick K, Carrasco D, Dagli AI, Nowaczyk MJM, Hančárová M, Bendová Š, Prchalova D, Sedláček Z, Baxová A, Nowak CB, Douglas J, Chung WK, Longo N, Platzer K, Klöckner C, Averdunk L, Wieczorek D, Krey I, Zweier C, Reis A, Balci T, Simon M, Kroes HY, Wiesener A, Vasileiou G, Marinakis NM, Veltra D, Sofocleous C, Kosma K, Synodinos JT, Voudris KA, Vuillaume ML, Gueguen P, Derive N, Colin E, Battault C, Au B, Delatycki M, Wallis M, Gallacher L, Majdoub F, Smal N, Weckhuysen S, Schoonjans AS, Kooy RF, Meuwissen M, Cocanougher BT, Taylor K, Pizoli CE, McDonald MT, James P, Roeder ER, Littlejohn R, Borja NA, Thorson W, King K, Stoeva R, Suerink M, Nibbeling E, Baskin S, Guyader GLE, Kaplan J, Muss C, Carere DA, Bhoj EJK, Bryant LM. Layo-Carris DE, et al. Among authors: marinakis nm. Eur J Hum Genet. 2024 Aug;32(8):1032. doi: 10.1038/s41431-024-01659-y. Eur J Hum Genet. 2024. PMID: 39060653 Free PMC article. No abstract available.
Pathogenic variants in TMEM184B cause a neurodevelopmental syndrome via alteration of metabolic signaling.
Chapman KA, Ullah F, Yahiku ZA, Kodiparthi SV, Kellaris G, Correia SP, Stödberg T, Sofokleous C, Marinakis NM, Fryssira H, Tsoutsou E, Traeger-Synodinos J, Accogli A, Salpietro V, Striano P, Berger SI, Pond KW, Sirimulla S, Davis EE, Bhattacharya MR. Chapman KA, et al. Among authors: marinakis nm. medRxiv [Preprint]. 2024 Jul 1:2024.06.27.24309417. doi: 10.1101/2024.06.27.24309417. medRxiv. 2024. PMID: 39006436 Free PMC article. Preprint.
41 results