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

1,334 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy.
Wong HH, Seet SH, Maier M, Gurel A, Traspas RM, Lee C, Zhang S, Talim B, Loh AYT, Chia CY, Teoh TS, Sng D, Rensvold J, Unal S, Shishkova E, Cepni E, Nathan FM, Sirota FL, Liang C, Yarali N, Simsek-Kiper PO, Mitani T, Ceylaner S, Arman-Bilir O, Mbarek H, Gumruk F, Efthymiou S, Uğurlu Çi Men D, Georgiadou D, Sotiropoulou K, Houlden H, Paul F, Pehlivan D, Lainé C, Chai G, Ali NA, Choo SC, Keng SS, Boisson B, Yılmaz E, Xue S, Coon JJ, Ly TTN, Gilani N, Hasbini D, Kayserili H, Zaki MS, Isfort RJ, Ordonez N, Tripolszki K, Bauer P, Rezaei N, Seyedpour S, Khotaei GT, Bascom CC, Maroofian R, Chaabouni M, Alsubhi A, Eyaid W, Işıkay S, Gleeson JG, Lupski JR, Casanova JL, Pagliarini DJ, Akarsu NA, Maurer-Stroh S, Cetinkaya A, Bertoli-Avella A, Mathuru AS, Ho L, Bard FA, Reversade B. Wong HH, et al. Among authors: maier m. Am J Hum Genet. 2021 Jul 1;108(7):1301-1317. doi: 10.1016/j.ajhg.2021.05.003. Epub 2021 May 25. Am J Hum Genet. 2021. PMID: 34038740 Free PMC article.
Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy.
Wong HH, Seet SH, Maier M, Gurel A, Traspas RM, Lee C, Zhang S, Talim B, Loh AYT, Chia CY, Teoh TS, Sng D, Rensvold J, Unal S, Shishkova E, Cepni E, Nathan FM, Sirota FL, Liang C, Yarali N, Simsek-Kiper PO, Mitani T, Ceylaner S, Arman-Bilir O, Mbarek H, Gumruk F, Efthymiou S, Çïmen DU, Georgiadou D, Sotiropoulou K, Houlden H, Paul F, Pehlivan D, Lainé C, Chai G, Ali NA, Choo SC, Keng SS, Boisson B, Yılmaz E, Xue S, Coon JJ, Nguyen Ly TT, Gilani N, Hasbini D, Kayserili H, Zaki MS, Isfort RJ, Ordonez N, Tripolszki K, Bauer P, Rezaei N, Seyedpour S, Khotaei GT, Bascom CC, Maroofian R, Chaabouni M, Alsubhi A, Eyaid W, Işıkay S, Gleeson JG, Lupski JR, Casanova JL, Pagliarini DJ, Akarsu NA, Maurer-Stroh S, Cetinkaya A, Bertoli-Avella A, Mathuru AS, Ho L, Bard FA, Reversade B. Wong HH, et al. Among authors: maier m. Am J Hum Genet. 2021 Jul 1;108(7):1356. doi: 10.1016/j.ajhg.2021.06.009. Am J Hum Genet. 2021. PMID: 34214448 Free PMC article. No abstract available.
Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis.
Moreno Traspas R, Teoh TS, Wong PM, Maier M, Chia CY, Lay K, Ali NA, Larson A, Al Mutairi F, Al-Sannaa NA, Faqeih EA, Alfadhel M, Cheema HA, Dupont J, Bézieau S, Isidor B, Low DY, Wang Y, Tan G, Lai PS, Piloquet H, Joubert M, Kayserili H, Kripps KA, Nahas SA, Wartchow EP, Warren M, Bhavani GS, Dasouki M, Sandoval R, Carvalho E, Ramos L, Porta G, Wu B, Lashkari HP, AlSaleem B, BaAbbad RM, Abreu Ferrão AN, Karageorgou V, Ordonez-Herrera N, Khan S, Bauer P, Cogne B, Bertoli-Avella AM, Vincent M, Girisha KM, Reversade B. Moreno Traspas R, et al. Among authors: maier m. Nat Genet. 2022 Aug;54(8):1214-1226. doi: 10.1038/s41588-022-01120-0. Epub 2022 Jul 21. Nat Genet. 2022. PMID: 35864190 Free PMC article.
Precision targeting of β-catenin induces tumor reprogramming and immunity in hepatocellular cancers.
Monga S, Lehrich B, Delgado E, Yasaka T, Liu S, Cao C, Liu Y, Taheri M, Guan X, Koeppen H, Singh S, Liu JJ, Singh-Varma A, Krutsenko Y, Poddar M, Hitchens T, Foley L, Liang B, Rialdi A, Rai R, Patel P, Riley M, Bell A, Raeman R, Dadali T, Luke J, Guccione E, Ebrahimkhani M, Lujambio A, Chen X, Maier M, Wang Y, Broom W, Tao J. Monga S, et al. Among authors: maier m. Res Sq [Preprint]. 2024 Dec 12:rs.3.rs-5494074. doi: 10.21203/rs.3.rs-5494074/v1. Res Sq. 2024. PMID: 39711542 Free PMC article. Preprint.
Deceleration capacity derived from a five-minute electrocardiogram predicts mortality in the general population.
Steger A, Barthel P, Müller A, Rückert-Eheberg IM, Linkohr B, Allescher J, Maier M, Hapfelmeier A, Martens E, Heidegger HH, Müller AM, Rizas KD, Kääb S, Sinner MF, Sinnecker D, Laugwitz KL, Peters A, Schmidt G. Steger A, et al. Among authors: maier m. Sci Rep. 2024 Dec 19;14(1):30566. doi: 10.1038/s41598-024-83712-w. Sci Rep. 2024. PMID: 39702502 Free PMC article.
2024 Update of the RECOVER-Adult Long COVID Research Index.
Geng LN, Erlandson KM, Hornig M, Letts R, Selvaggi C, Ashktorab H, Atieh O, Bartram L, Brim H, Brosnahan SB, Brown J, Castro M, Charney A, Chen P, Deeks SG, Erdmann N, Flaherman VJ, Ghamloush MA, Goepfert P, Goldman JD, Han JE, Hess R, Hirshberg E, Hoover SE, Katz SD, Kelly JD, Klein JD, Krishnan JA, Lee-Iannotti J, Levitan EB, Marconi VC, Metz TD, Modes ME, Nikolich JŽ, Novak RM, Ofotokun I, Okumura MJ, Parthasarathy S, Patterson TF, Peluso MJ, Poppas A, Quintero Cardona O, Scott J, Shellito J, Sherif ZA, Singer NG, Taylor BS, Thaweethai T, Verduzco-Gutierrez M, Wisnivesky J, McComsey GA, Horwitz LI, Foulkes AS; RECOVER Consortium. Geng LN, et al. JAMA. 2024 Dec 18. doi: 10.1001/jama.2024.24184. Online ahead of print. JAMA. 2024. PMID: 39693079
High resistance barrier and prophylactic protection in preclinical models of SARS-CoV-2 with two siRNA combination.
Anglero-Rodriguez YI, Lempp FA, Subramanian M, McIninch J, Schlegel MK, Bohan D, Wong E, Brown CR, Foster DJ, Castoreno AB, Nguyen T, Cuffe D, Montiel-Ruiz M, Kaiser H, Sahakyan A, Spreafico R, Morskaya SS, Barry JD, Berman D, Zhang L, Lefebvre S, Kasper A, Racie T, Weddle D, Mobley M, Wassarman K, Bisbe A, Zlatev I, Rogers A, Nechev L, Dybowski J, Chong S, Nair J, Simon A, Sloan K, Hwang S, Virgin HW, Fitzgerald K, Maier MA, Hinkle G, Hebner CM, Akinc A, Jadhav V. Anglero-Rodriguez YI, et al. Among authors: maier ma. Nucleic Acids Res. 2024 Dec 9:gkae1195. doi: 10.1093/nar/gkae1195. Online ahead of print. Nucleic Acids Res. 2024. PMID: 39657790
DE-PASS Best Evidence Statement (BESt): A Systematic Review and Meta-analysis on the Effectiveness of Trials on Device-Measured Physical Activity and Sedentary Behaviour and Their Determinants in Children Aged 5-12 Years.
Khudair M, Marcuzzi A, Tempest GD, Ng K, Peric R, Bartoš F, Maier M, Brandes M, Carlin A, Ciaccioni S, Cortis C, Corvino C, di Credico A, Drid P, Gallè F, Izzicupo P, Jahre H, Kolovelonis A, Kongsvold A, Kouidi E, Mork PJ, Palumbo F, Rumbold PLS, Sandu P, Stavnsbo M, Syrmpas I, Vilela S, Woods C, Wunsch K, Capranica L, MacDonncha C, Ling FCM; DE-PASS. Khudair M, et al. Among authors: maier m. Sports Med. 2024 Dec 6. doi: 10.1007/s40279-024-02136-8. Online ahead of print. Sports Med. 2024. PMID: 39643840
1,334 results