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66 results

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Page 1
High dose genistein in Sanfilippo syndrome: A randomised controlled trial.
Ghosh A, Rust S, Langford-Smith K, Weisberg D, Canal M, Breen C, Hepburn M, Tylee K, Vaz FM, Vail A, Wijburg F, O'Leary C, Parker H, Wraith JE, Bigger BW, Jones SA. Ghosh A, et al. Among authors: weisberg d. J Inherit Metab Dis. 2021 Sep;44(5):1248-1262. doi: 10.1002/jimd.12407. Epub 2021 Jun 13. J Inherit Metab Dis. 2021. PMID: 34047372 Clinical Trial.
Correction: A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome.
Cuvertino S, Hartill V, Colyer A, Garner T, Nair N, Al-Gazali L, Canham N, Faundes V, Flinter F, Hertecant J, Holder-Espinasse M, Jackson B, Lynch SA, Nadat F, Narasimhan VM, Peckham M, Sellers R, Seri M, Montanari F, Southgate L, Squeo GM, Trembath R, van Heel D, Venuto S, Weisberg D, Stals K, Ellard S; Genomics England Research Consortium; Barton A, Kimber SJ, Sheridan E, Merla G, Stevens A, Johnson CA, Banka S. Cuvertino S, et al. Among authors: weisberg d. Genet Med. 2020 May;22(5):980. doi: 10.1038/s41436-020-0784-7. Genet Med. 2020. PMID: 32203228 Free PMC article.
A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome.
Cuvertino S, Hartill V, Colyer A, Garner T, Nair N, Al-Gazali L, Canham N, Faundes V, Flinter F, Hertecant J, Holder-Espinasse M, Jackson B, Lynch SA, Nadat F, Narasimhan VM, Peckham M, Sellers R, Seri M, Montanari F, Southgate L, Squeo GM, Trembath R, van Heel D, Venuto S, Weisberg D, Stals K, Ellard S; Genomics England Research Consortium; Barton A, Kimber SJ, Sheridan E, Merla G, Stevens A, Johnson CA, Banka S. Cuvertino S, et al. Among authors: weisberg d. Genet Med. 2020 May;22(5):867-877. doi: 10.1038/s41436-019-0743-3. Epub 2020 Jan 17. Genet Med. 2020. PMID: 31949313 Free PMC article.
Perceived fatigue in children and young adults with neurofibromatosis type 1.
Vassallo G, Mughal Z, Robinson L, Weisberg D, Roberts SA, Hupton E, Eelloo J, Burkitt Wright EM, Garg S, Lewis L, Evans DG, Stivaros SM. Vassallo G, et al. Among authors: weisberg d. J Paediatr Child Health. 2020 Jun;56(6):878-883. doi: 10.1111/jpc.14764. Epub 2020 Jan 9. J Paediatr Child Health. 2020. PMID: 31916647
Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome.
Rots D, Bouman A, Yamada A, Levy M, Dingemans AJM, de Vries BBA, Ruiterkamp-Versteeg M, de Leeuw N, Ockeloen CW, Pfundt R, de Boer E, Kummeling J, van Bon B, van Bokhoven H, Kasri NN, Venselaar H, Alders M, Kerkhof J, McConkey H, Kuechler A, Elffers B, van Beeck Calkoen R, Hofman S, Smith A, Valenzuela MI, Srivastava S, Frazier Z, Maystadt I, Piscopo C, Merla G, Balasubramanian M, Santen GWE, Metcalfe K, Park SM, Pasquier L, Banka S, Donnai D, Weisberg D, Strobl-Wildemann G, Wagemans A, Vreeburg M, Baralle D, Foulds N, Scurr I, Brunetti-Pierri N, van Hagen JM, Bijlsma EK, Hakonen AH, Courage C, Genevieve D, Pinson L, Forzano F, Deshpande C, Kluskens ML, Welling L, Plomp AS, Vanhoutte EK, Kalsner L, Hol JA, Putoux A, Lazier J, Vasudevan P, Ames E, O'Shea J, Lederer D, Fleischer J, O'Connor M, Pauly M, Vasileiou G, Reis A, Kiraly-Borri C, Bouman A, Barnett C, Nezarati M, Borch L, Beunders G, Özcan K, Miot S, Volker-Touw CML, van Gassen KLI, Cappuccio G, Janssens K, Mor N, Shomer I, Dominissini D, Tedder ML, Muir AM, Sadikovic B, Brunner HG, Vissers LELM, Shinkai Y, Kleefstra T. Rots D, et al. Among authors: weisberg d. Am J Hum Genet. 2024 Aug 8;111(8):1605-1625. doi: 10.1016/j.ajhg.2024.06.008. Epub 2024 Jul 15. Am J Hum Genet. 2024. PMID: 39013458
Author Correction: A high-density and high-confinement tokamak plasma regime for fusion energy.
Ding S, Garofalo AM, Wang HQ, Weisberg DB, Li ZY, Jian X, Eldon D, Victor BS, Marinoni A, Hu QM, Carvalho IS, Odstrčil T, Wang L, Hyatt AW, Osborne TH, Gong XZ, Qian JP, Huang J, McClenaghan J, Holcomb CT, Hanson JM. Ding S, et al. Among authors: weisberg db. Nature. 2024 Jun;630(8016):E4. doi: 10.1038/s41586-024-07545-3. Nature. 2024. PMID: 38778118 Free PMC article. No abstract available.
66 results