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Page 1
The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder.
Kumble S, Levy AM, Punetha J, Gao H, Ah Mew N, Anyane-Yeboa K, Benke PJ, Berger SM, Bjerglund L, Campos-Xavier B, Ciliberto M, Cohen JS, Comi AM, Curry C, Damaj L, Denommé-Pichon AS, Emrick L, Faivre L, Fasano MB, Fiévet A, Finkel RS, García-Miñaúr S, Gerard A, Gomez-Puertas P, Guillen Sacoto MJ, Hoffman TL, Howard L, Iglesias AD, Izumi K, Larson A, Leiber A, Lozano R, Marcos-Alcalde I, Mintz CS, Mullegama SV, Møller RS, Odent S, Oppermann H, Ostergaard E, Pacio-Míguez M, Palomares-Bralo M, Parikh S, Paulson AM, Platzer K, Posey JE, Potocki L, Revah-Politi A, Rio M, Ritter AL, Robinson S, Rosenfeld JA, Santos-Simarro F, Sousa SB; Undiagnosed Diseases Network; Wéber M, Xie Y, Chung WK, Brown NJ, Tümer Z. Kumble S, et al. Among authors: weber m. Hum Mutat. 2022 Feb;43(2):266-282. doi: 10.1002/humu.24308. Epub 2021 Dec 11. Hum Mutat. 2022. PMID: 34859529 Free article.
CDK13-related disorder: Report of a series of 18 previously unpublished individuals and description of an epigenetic signature.
Rouxel F, Relator R, Kerkhof J, McConkey H, Levy M, Dias P, Barat-Houari M, Bednarek N, Boute O, Chatron N, Cherik F, Delahaye-Duriez A, Doco-Fenzy M, Faivre L, Gauthier LW, Heron D, Hildebrand MS, Lesca G, Lespinasse J, Mazel B, Menke LA, Morgan AT, Pinson L, Quelin C, Rossi M, Ruiz-Pallares N, Tran-Mau-Them F, Van Kessel IN, Vincent M, Weber M, Willems M, Leguyader G, Sadikovic B, Genevieve D. Rouxel F, et al. Among authors: weber m. Genet Med. 2022 May;24(5):1096-1107. doi: 10.1016/j.gim.2021.12.016. Epub 2022 Jan 19. Genet Med. 2022. PMID: 35063350 Free article.
Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.
de Boer E, Ockeloen CW, Kampen RA, Hampstead JE, Dingemans AJM, Rots D, Lütje L, Ashraf T, Baker R, Barat-Houari M, Angle B, Chatron N, Denommé-Pichon AS, Devinsky O, Dubourg C, Elmslie F, Elloumi HZ, Faivre L, Fitzgerald-Butt S, Geneviève D, Goos JAC, Helm BM, Kini U, Lasa-Aranzasti A, Lesca G, Lynch SA, Mathijssen IMJ, McGowan R, Monaghan KG, Odent S, Pfundt R, Putoux A, van Reeuwijk J, Santen GWE, Sasaki E, Sorlin A, van der Spek PJ, Stegmann APA, Swagemakers SMA, Valenzuela I, Viora-Dupont E, Vitobello A, Ware SM, Wéber M, Gilissen C, Low KJ, Fisher SE, Vissers LELM, Wong MMK, Kleefstra T. de Boer E, et al. Among authors: weber m. Genet Med. 2022 Oct;24(10):2051-2064. doi: 10.1016/j.gim.2022.06.007. Epub 2022 Jul 14. Genet Med. 2022. PMID: 35833929 Free article.
YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse.
Denommé-Pichon AS, Collins SC, Bruel AL, Mikhaleva A, Wagner C, Vancollie VE, Thomas Q, Chevarin M, Weber M, Prada CE, Overs A, Palomares-Bralo M, Santos-Simarro F, Pacio-Míguez M, Busa T, Legius E, Bacino CA, Rosenfeld JA, Le Guyader G, Egloff M, Le Guillou X, Mencarelli MA, Renieri A, Grosso S, Levy J, Dozières B, Desguerre I, Vitobello A, Duffourd Y, Lelliott CJ, Thauvin-Robinet C, Philippe C, Faivre L, Yalcin B. Denommé-Pichon AS, et al. Among authors: weber m. Genet Med. 2023 Jul;25(7):100835. doi: 10.1016/j.gim.2023.100835. Epub 2023 Mar 28. Genet Med. 2023. PMID: 36999555 Free article. Review.
Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.
de Boer E, Ockeloen CW, Kampen RA, Hampstead JE, Dingemans AJM, Rots D, Lütje L, Ashraf T, Baker R, Barat-Houari M, Angle B, Chatron N, Denommé-Pichon AS, Devinsky O, Dubourg C, Elmslie F, Elloumi HZ, Faivre L, Fitzgerald-Butt S, Geneviève D, Goos JAC, Helm BM, Kini U, Lasa-Aranzasti A, Lesca G, Lynch SA, Mathijssen IMJ, McGowan R, Monaghan KG, Odent S, Pfundt R, Putoux A, van Reeuwijk J, Santen GWE, Sasaki E, Sorlin A, van der Spek PJ, Stegmann APA, Swagemakers SMA, Valenzuela I, Viora-Dupont E, Vitobello A, Ware SM, Wéber M, Gilissen C, Low KJ, Fisher SE, Vissers LELM, Wong MMK, Kleefstra T. de Boer E, et al. Among authors: weber m. Genet Med. 2023 Nov;25(11):100962. doi: 10.1016/j.gim.2023.100962. Epub 2023 Sep 1. Genet Med. 2023. PMID: 37658852 Free article. No abstract available.
St. John's wort extract with a high hyperforin content does not induce P-glycoprotein activity at the human blood-brain barrier.
El Biali M, Wölfl-Duchek M, Jackwerth M, Mairinger S, Weber M, Bamminger K, Poschner S, Rausch I, Schindler N, Lozano IH, Jäger W, Nics L, Tournier N, Hacker M, Zeitlinger M, Bauer M, Langer O. El Biali M, et al. Among authors: weber m. Clin Transl Sci. 2024 May;17(5):e13804. doi: 10.1111/cts.13804. Clin Transl Sci. 2024. PMID: 38700454
Transabdominal Motor Evoked Potential Neuromonitoring of Lumbosacral Spine Surgery.
Allison DW, Verma A, Holman PJ, Huang M, Trask TW, Barber SM, Cockrell AR, Weber MR, Brooks DW, Delgado L, Steele WJ, Sellin JN, Gressot LV, Lambert B, Ma BB, Faraji AH, Saifi C. Allison DW, et al. Among authors: weber mr. Spine J. 2024 Apr 27:S1529-9430(24)00194-3. doi: 10.1016/j.spinee.2024.04.029. Online ahead of print. Spine J. 2024. PMID: 38685276
[Expert recommendations for magnetic resonance imaging of muscle disorders].
Zeng R, Schlaeger S, Türk M, Baum T, Deschauer M, Janka R, Karampinos D, Kassubek J, Keller-Yamamura S, Kornblum C, Lehmann H, Lichtenstein T, Nagel AM, Reimann J, Rosenbohm A, Schlaffke L, Schmidt M, Schneider-Gold C, Schoser B, Trollmann R, Vorgerd M, Weber MA, Kirschke JS, Schmidt J. Zeng R, et al. Among authors: weber ma. Nervenarzt. 2024 Apr 29. doi: 10.1007/s00115-024-01673-x. Online ahead of print. Nervenarzt. 2024. PMID: 38683354 Review. German.
First Measurement of η Meson Production in Neutrino Interactions on Argon with MicroBooNE.
Abratenko P, Alterkait O, Andrade Aldana D, Anthony J, Arellano L, Asaadi J, Ashkenazi A, Balasubramanian S, Baller B, Barr G, Barrow J, Basque V, Benevides Rodrigues O, Berkman S, Bhanderi A, Bhat A, Bhattacharya M, Bishai M, Blake A, Bogart B, Bolton T, Book JY, Camilleri L, Cao Y, Caratelli D, Caro Terrazas I, Cavanna F, Cerati G, Chen Y, Conrad JM, Convery M, Cooper-Troendle L, Crespo-Anadón JI, Del Tutto M, Dennis SR, Detje P, Devitt A, Diurba R, Djurcic Z, Dorrill R, Duffy K, Dytman S, Eberly B, Englezos P, Ereditato A, Evans JJ, Fine R, Finnerud OG, Foreman W, Fleming BT, Foppiani N, Franco D, Furmanski AP, Garcia-Gamez D, Gardiner S, Ge G, Gollapinni S, Goodwin O, Gramellini E, Green P, Greenlee H, Gu W, Guenette R, Guzowski P, Hagaman L, Hen O, Hicks R, Hilgenberg C, Horton-Smith GA, Imani Z, Irwin B, Itay R, James C, Ji X, Jiang L, Jo JH, Johnson RA, Jwa YJ, Kalra D, Kamp N, Karagiorgi G, Ketchum W, Kirby M, Kobilarcik T, Kreslo I, Leibovitch MB, Lepetic I, Li JY, Li K, Li Y, Lin K, Littlejohn BR, Louis WC, Luo X, Mariani C, Marsden D, Marshall J, Martinez N, Martinez Caicedo DA, Mason K, Mastbaum A, McConkey N, Meddage V, Miller K, Mills J, Mogan A, Mohayai T, Mooney M,… See abstract for full author list ➔ Abratenko P, et al. Among authors: weber m. Phys Rev Lett. 2024 Apr 12;132(15):151801. doi: 10.1103/PhysRevLett.132.151801. Phys Rev Lett. 2024. PMID: 38683006
7,964 results