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Page 1
SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission.
Fasham J, Huebner AK, Liebmann L, Khalaf-Nazzal R, Maroofian R, Kryeziu N, Wortmann SB, Leslie JS, Ubeyratna N, Mancini GMS, van Slegtenhorst M, Wilke M, Haack TB, Shamseldin HE, Gleeson JG, Almuhaizea M, Dweikat I, Abu-Libdeh B, Daana M, Zaki MS, Wakeling MN, McGavin L, Turnpenny PD, Alkuraya FS, Houlden H, Schlattmann P, Kaila K, Crosby AH, Baple EL, Hübner CA. Fasham J, et al. Among authors: daana m. Brain. 2023 Nov 2;146(11):4547-4561. doi: 10.1093/brain/awad235. Brain. 2023. PMID: 37459438 Free PMC article.
USP27X variants underlying X-linked intellectual disability disrupt protein function via distinct mechanisms.
Koch I, Slovik M, Zhang Y, Liu B, Rennie M, Konz E, Cogne B, Daana M, Davids L, Diets IJ, Gold NB, Holtz AM, Isidor B, Mor-Shaked H, Neira Fresneda J, Niederhoffer KY, Nizon M, Pfundt R, Simon M, Stegmann A, Guillen Sacoto MJ, Wevers M, Barakat TS, Yanovsky-Dagan S, Atanassov BS, Toth R, Gao C, Bustos F, Harel T. Koch I, et al. Among authors: daana m. Life Sci Alliance. 2024 Jan 5;7(3):e202302258. doi: 10.26508/lsa.202302258. Print 2024 Mar. Life Sci Alliance. 2024. PMID: 38182161 Free PMC article.
Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome.
Engal E, Oja KT, Maroofian R, Geminder O, Le TL, Marzin P, Guimier A, Mor E, Zvi N, Elefant N, Zaki MS, Gleeson JG, Muru K, Pajusalu S, Wojcik MH, Pachat D, Elmaksoud MA, Chan Jeong W, Lee H, Bauer P, Zifarelli G, Houlden H, Daana M, Elpeleg O, Amiel J, Lyonnet S, Gordon CT, Harel T, Õunap K, Salton M, Mor-Shaked H. Engal E, et al. Among authors: daana m. Am J Hum Genet. 2023 Dec 7;110(12):2112-2119. doi: 10.1016/j.ajhg.2023.10.013. Epub 2023 Nov 13. Am J Hum Genet. 2023. PMID: 37963460
Development of a model-based clinical trial simulation platform to optimize the design of clinical trials for Duchenne muscular dystrophy.
Lingineni K, Aggarwal V, Morales JF, Conrado DJ, Corey D, Vong C, Burton J, Larkindale J, Romero K, Schmidt S, Kim S; Cooperative International Neuromuscular Research Group investigators and Duchenne Regulatory Science Consortium members. Lingineni K, et al. CPT Pharmacometrics Syst Pharmacol. 2022 Mar;11(3):318-332. doi: 10.1002/psp4.12753. Epub 2022 Jan 3. CPT Pharmacometrics Syst Pharmacol. 2022. PMID: 34877803 Free PMC article.
Immune Thrombocytopenia Secondary to COVID-19 Infection.
Kupietzky A, Parnasa E, Fischer M, Kuint R, Daana M. Kupietzky A, et al. Among authors: daana m. Isr Med Assoc J. 2021 Jun;23(6):342-343. Isr Med Assoc J. 2021. PMID: 34155845 Free article. No abstract available.
Autoimmune Encephalitis Secondary to COVID-19 Infection.
Parnasa E, Kupietzky A, Korem M, Daana M. Parnasa E, et al. Among authors: daana m. Isr Med Assoc J. 2021 Jun;23(6):335. Isr Med Assoc J. 2021. PMID: 34155842 Free article. No abstract available.
Pleurisy Can Cause Chest Wall Tenderness: A Case Report.
Yaari S, Juravel E, Daana M, Heyman SN. Yaari S, et al. Among authors: daana m. Eur J Case Rep Intern Med. 2020 Jul 23;7(10):001657. doi: 10.12890/2020_001657. eCollection 2020. Eur J Case Rep Intern Med. 2020. PMID: 33083347 Free PMC article.
22 results