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Stark choices: exploring health sector costs of policy responses to COVID-19 in low-income and middle-income countries.
Torres-Rueda S, Sweeney S, Bozzani F, Naylor NR, Baker T, Pearson C, Eggo R, Procter SR, Davies N, Quaife M, Kitson N, Keogh-Brown MR, Jensen HT, Saadi N, Khan M, Huda M, Kairu A, Zaidi R, Barasa E, Jit M, Vassall A. Torres-Rueda S, et al. Among authors: saadi n. BMJ Glob Health. 2021 Dec;6(12):e005759. doi: 10.1136/bmjgh-2021-005759. BMJ Glob Health. 2021. PMID: 34857521 Free PMC article.
Cost of TB services: approach and summary findings of a multi-country study (Value TB).
Sweeney S, Laurence YV, Cunnama L, Gomez GB, Garcia-Baena I, Bhide P, Capeding TJ, Chatterjee S, Chikovani I, Eyob H, Kairu A, Terefe MM, Shengelia N, Toshniwal M, Saadi N, Bergren E, Vassall A. Sweeney S, et al. Among authors: saadi n. Int J Tuberc Lung Dis. 2022 Nov 1;26(11):1006-1015. doi: 10.5588/ijtld.22.0096. Int J Tuberc Lung Dis. 2022. PMID: 36281042 Free PMC article.
Clinical and genetic characteristics of carriers of the TP53 c.541C > T, p.Arg181Cys pathogenic variant causing hereditary cancer in patients of Arab-Muslim descent.
Arnon J, Zick A, Maoz M, Salaymeh N, Gugenheim A, Marouani M, Mor E, Hamburger T, Saadi N, Elia A, Ganz G, Fahham D, Meirovitz A, Kadouri L, Meiner V, Yablonski-Peretz T, Shkedi-Rafid S. Arnon J, et al. Among authors: saadi n. Fam Cancer. 2024 May 14. doi: 10.1007/s10689-024-00391-2. Online ahead of print. Fam Cancer. 2024. PMID: 38743206
Mono and biallelic variants in HCN2 cause severe neurodevelopmental disorders.
Houdayer C, Phillips AM, Chabbert M, Bourreau J, Maroofian R, Houlden H, Richards K, Saadi NW, Dad'ová E, Van Bogaert P, Rupin M, Keren B, Charles P, Smol T, Riquet A, Pais L, O'Donnell-Luria A, VanNoy GE, Bayat A, Møller RS, Olofsson K, Abou Jamra R, Syrbe S, Dasouki M, Seaver LH, Sullivan JA, Shashi V, Alkuraya FS, Poss AF, Spence JE, Schnur RE, Forster IC, Mckenzie CE, Simons C, Wang M, Snell P, Kothur K, Buckley M, Roscioli T, Elserafy N, Dauriat B, Procaccio V, Henrion D, Lenaers G, Colin E, Verbeek NE, Van Gassen KL, Legendre C, Bonneau D, Reid CA, Howell KB, Ziegler A, Legros C. Houdayer C, et al. Among authors: saadi nw. medRxiv [Preprint]. 2024 Mar 22:2024.03.19.24303984. doi: 10.1101/2024.03.19.24303984. medRxiv. 2024. PMID: 38562733 Free PMC article. Preprint.
Clinical and molecular characterization of patients with YWHAG-related epilepsy.
Cetica V, Pisano T, Lesca G, Marafi D, Licchetta L, Riccardi F, Mei D, Chung HB, Bayat A, Balasubramanian M, Lowenstein DH, Endzinienė M, Alotaibi M, Villeneuve N, Jacobs J, Isidor B, Solazzi R, den Hollander NS, Marjanovic D, Rougeot-Jung C, Jung J, Lesieur-Sebellin M, Accogli A, Salpietro V, Saadi NW, Panagiotakaki E, Foiadelli T, Redon S, Tsai MH, Bisulli F, Hammer TB, Lupski JR, Parrini E, Guerrini R; YWHAG Study Group. Cetica V, et al. Among authors: saadi nw. Epilepsia. 2024 May;65(5):1439-1450. doi: 10.1111/epi.17939. Epub 2024 Mar 16. Epilepsia. 2024. PMID: 38491959
Expanding the phenotype of PPP1R21-related neurodevelopmental disorder.
Almannai M, Marafi D, Zaki MS, Maroofian R, Efthymiou S, Saadi NW, Filimban B, Dafsari HS, Rahman F, Maqbool S, Faqeih E, Al Mutairi F, Alsharhan H, Abdelaty O, Bin-Hasan S, Duan R, Noureldeen MM, Alqattan A, Houlden H, Hunter JV, Posey JE, Lupski JR, El-Hattab AW. Almannai M, et al. Among authors: saadi nw. Clin Genet. 2024 Jun;105(6):620-629. doi: 10.1111/cge.14492. Epub 2024 Feb 14. Clin Genet. 2024. PMID: 38356149
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. 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.
97 results