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894 results

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Page 1
Further clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants, a gene implicated in the leukemia-related JAK-STAT pathway.
Delanne J, Lecat M, Blackburn PR, Klee EW, Stumpel CTRM, Stegmann S, Stevens SJC, Nava C, Heron D, Keren B, Mahida S, Naidu S, Babovic-Vuksanovic D, Herkert JC, Torring PM, Kibæk M, De Bie I, Pfundt R, Hendriks YMC, Ousager LB, Bend R, Warren H, Skinner SA, Lyons MJ, Pöe C, Chevarin M, Jouan T, Garde A, Thomas Q, Kuentz P, Tisserant E, Duffourd Y, Philippe C, Faivre L, Thauvin-Robinet C. Delanne J, et al. Among authors: naidu s. Eur J Med Genet. 2023 Jan;66(1):104670. doi: 10.1016/j.ejmg.2022.104670. Epub 2022 Nov 19. Eur J Med Genet. 2023. PMID: 36414205 Review.
Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C.
Mirchi A, Guay SP, Tran LT, Wolf NI, Vanderver A, Brais B, Sylvain M, Pohl D, Rossignol E, Saito M, Moutton S, González-Gutiérrez-Solana L, Thiffault I, Kruer MC, Moron DG, Kauffman M, Goizet C, Sztriha L, Glamuzina E, Melançon SB, Naidu S, Retrouvey JM, Lacombe S, Bernardino-Cuesta B, De Bie I, Bernard G. Mirchi A, et al. Among authors: naidu s. J Med Genet. 2023 Oct;60(10):1026-1034. doi: 10.1136/jmg-2023-109223. Epub 2023 May 16. J Med Genet. 2023. PMID: 37197783 Free PMC article.
Clinical features and genotype-phenotype correlations in epilepsy patients with de novo DYNC1H1 variants.
Cuccurullo C, Cerulli Irelli E, Ugga L, Riva A, D'Amico A, Cabet S, Lesca G, Bilo L, Zara F, Iliescu C, Barca D, Fung F, Helbig K, Ortiz-Gonzalez X, Schelhaas HJ, Willemsen MH, van der Linden I, Canafoglia L, Courage C, Gommaraschi S, Gonzalez-Alegre P, Bardakjian T, Syrbe S, Schuler E, Lemke JR, Vari S, Roende G, Bak M, Huq M, Powis Z, Johannesen KM, Hammer TB, Møller RS, Rabin R, Pappas J, Zupanc ML, Zadeh N, Cohen J, Naidu S, Krey I, Saneto R, Thies J, Licchetta L, Tinuper P, Bisulli F, Minardi R, Bayat A, Villeneuve N, Molinari F, Salimi Dafsari H, Moller B, Le Roux M, Houdayer C, Vecchi M, Mammi I, Fiorini E, Proietti J, Ferri S, Cantalupo G, Battaglia DI, Gambardella ML, Contaldo I, Brogna C, Trivisano M, De Dominicis A, Bova SM, Gardella E, Striano P, Coppola A. Cuccurullo C, et al. Among authors: naidu s. Epilepsia. 2024 Sep;65(9):2728-2750. doi: 10.1111/epi.18054. Epub 2024 Jul 2. Epilepsia. 2024. PMID: 38953796
Limited Concordance of Left Ventricular Ejection Fraction and Chamber Dimensions with Automated Assessments in Hypertrophic Cardiomyopathy: A Sub-study from VALOR-HCM.
Parizher G, Haouzi A, Jaber WA, Owens A, Wolski K, Geske JB, Saberi S, Wang A, Sherrid M, Lakdawala NK, Tower-Rader A, Fermin D, Naidu SS, Popovic ZB, Smedira NG, Schaff H, McErlean E, Sewell C, Lampl K, Sehnert AJ, Nissen SE, Desai MY, Cremer PC. Parizher G, et al. Among authors: naidu ss. J Am Soc Echocardiogr. 2024 Dec 27:S0894-7317(24)00648-5. doi: 10.1016/j.echo.2024.12.009. Online ahead of print. J Am Soc Echocardiogr. 2024. PMID: 39733991 No abstract available.
Endophthalmitis After Bilateral Same-Day vs Unilateral Intravitreal Injection.
Tao BK, Huang RS, Mihalache A, Hwang J, Issa M, Naidu S, Popovic MM, Wykoff CC, McKay B, Kertes PJ, Yan P, Wong DT, Kohly RP, Muni RH. Tao BK, et al. Among authors: naidu s. Ophthalmol Retina. 2024 Dec 16:S2468-6530(24)00581-5. doi: 10.1016/j.oret.2024.12.005. Online ahead of print. Ophthalmol Retina. 2024. PMID: 39694278 Free article. No abstract available.
Mavacamten in Patients With Hypertrophic Cardiomyopathy Referred for Septal Reduction: Week 128 Results from VALOR-HCM.
Desai MY, Wolski K, Owens A, Geske JB, Saberi S, Wang A, Sherrid M, Cremer PC, Lakdawala NK, Tower-Rader A, Fermin D, Naidu SS, Smedira NG, Schaff H, Gong Z, Mudarris L, Lampl K, Sehnert AJ, Nissen SE; VALOR-HCM investigators. Desai MY, et al. Among authors: naidu ss. Circulation. 2024 Nov 18. doi: 10.1161/CIRCULATIONAHA.124.072445. Online ahead of print. Circulation. 2024. PMID: 39556124 Free article.
894 results