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TEK gene-related primary congenital glaucoma: Phenotypic features and mutational spectrum in a Mexican cohort of 10 unrelated families.
Chacon-Camacho OF, Ordaz-Robles T, Cid-García MA, Hofmann-Blancas ME, Ledesma-Gil J, García-Huerta MM, Prado-Larrea C, Cortés-González V, Lozano-Garza RI, García-Vega D, Kim J, Khang R, Lee E, Zenteno JC. Chacon-Camacho OF, et al. Among authors: khang r. Am J Med Genet A. 2024 Oct;194(10):e63716. doi: 10.1002/ajmg.a.63716. Epub 2024 Jun 7. Am J Med Genet A. 2024. PMID: 38847211
Whole exome sequencing in Serbian patients with hereditary spastic paraplegia.
Brankovic M, Ivanovic V, Basta I, Khang R, Lee E, Stevic Z, Ralic B, Tubic R, Seo G, Markovic V, Bozovic I, Svetel M, Marjanovic A, Veselinovic N, Mesaros S, Jankovic M, Savic-Pavicevic D, Jovin Z, Novakovic I, Lee H, Peric S. Brankovic M, et al. Among authors: khang r. Neurogenetics. 2024 Jul;25(3):165-177. doi: 10.1007/s10048-024-00755-x. Epub 2024 Mar 19. Neurogenetics. 2024. PMID: 38499745
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.
Salpietro V, Maroofian R, Zaki MS, Wangen J, Ciolfi A, Barresi S, Efthymiou S, Lamaze A, Aughey GN, Al Mutairi F, Rad A, Rocca C, Calì E, Accogli A, Zara F, Striano P, Mojarrad M, Tariq H, Giacopuzzi E, Taylor JC, Oprea G, Skrahina V, Rehman KU, Abd Elmaksoud M, Bassiony M, El Said HG, Abdel-Hamid MS, Al Shalan M, Seo G, Kim S, Lee H, Khang R, Issa MY, Elbendary HM, Rafat K, Marinakis NM, Traeger-Synodinos J, Ververi A, Sourmpi M, Eslahi A, Khadivi Zand F, Beiraghi Toosi M, Babaei M, Jackson A; SYNAPS Study Group; Bertoli-Avella A, Pagnamenta AT, Niceta M, Battini R, Corsello A, Leoni C, Chiarelli F, Dallapiccola B, Faqeih EA, Tallur KK, Alfadhel M, Alobeid E, Maddirevula S, Mankad K, Banka S, Ghayoor-Karimiani E, Tartaglia M, Chung WK, Green R, Alkuraya FS, Jepson JEC, Houlden H. Salpietro V, et al. Among authors: khang r. Am J Hum Genet. 2024 Jan 4;111(1):200-210. doi: 10.1016/j.ajhg.2023.11.012. Epub 2023 Dec 20. Am J Hum Genet. 2024. PMID: 38118446 Free PMC article.
Farnesol prevents aging-related muscle weakness in mice through enhanced farnesylation of Parkin-interacting substrate.
Bae JH, Jo A, Cho SC, Lee YI, Kam TI, You CL, Jeong HJ, Kim H, Jeong MH, Jeong Y, Ha YW, Kim YS, Kim J, Woo SH, Kim MS, Shin ES, Song SO, Kang H, Khang R, Park S, Park J, Dawson VL, Dawson TM, Park SC, Shin JH, Kang JS. Bae JH, et al. Among authors: khang r. Sci Transl Med. 2023 Aug 30;15(711):eabh3489. doi: 10.1126/scitranslmed.abh3489. Epub 2023 Aug 30. Sci Transl Med. 2023. PMID: 37647389
Whole exome sequencing identified five novel variants in CNTN2, CARS2, ARSA, and CLCN4 leading to epilepsy in consanguineous families.
Abdulkareem AA, Zaman Q, Khan H, Khan S, Rehman G, Tariq N, Ahmad M, Owais M, Najumuddin, Muthaffar OY, Bibi F, Khang R, Ryu SW, Naseer MI, Jelani M. Abdulkareem AA, et al. Among authors: khang r. Front Genet. 2023 Jun 8;14:1185065. doi: 10.3389/fgene.2023.1185065. eCollection 2023. Front Genet. 2023. PMID: 37359369 Free PMC article.
Maternal Mosaicism in SSBP1 Causing Optic Atrophy with Retinal Degeneration: Implications for Genetic Counseling.
Chang YH, Kang EY, Liu L, Jenny LA, Khang R, Seo GH, Lee H, Chen KJ, Wu WC, Hsiao MC, Wang NK. Chang YH, et al. Among authors: khang r. Res Sq [Preprint]. 2023 Mar 15:rs.3.rs-2554402. doi: 10.21203/rs.3.rs-2554402/v1. Res Sq. 2023. Update in: Orphanet J Rare Dis. 2023 May 31;18(1):131. doi: 10.1186/s13023-023-02748-9 PMID: 36993412 Free PMC article. Updated. Preprint.
20 results