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De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay.
Ha T, Morgan A, Bartos MN, Beatty K, Cogné B, Braun D, Gerber CB, Gaspar H, Kopps AM, Rieubland C, Hurst ACE, Amor DJ, Nizon M, Pasquier L, Pfundt R, Reis A, Siu VM, Tessarech M, Thompson ML, Vincent M, de Vries BBA, Walsh MB, Wechsler SB, Zweier C, Schnur RE, Guillen Sacoto MJ, Margot H, Masotto B, Palafoll MIV, Nawaz U, Voineagu I, Slavotinek A. Ha T, et al. Among authors: braun d. Am J Med Genet A. 2024 Jul;194(7):e63559. doi: 10.1002/ajmg.a.63559. Epub 2024 Feb 29. Am J Med Genet A. 2024. PMID: 38421105 Free article.
Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations.
Szakszon K, Lourenco CM, Callewaert BL, Geneviève D, Rouxel F, Morin D, Denommé-Pichon AS, Vitobello A, Patterson WG, Louie R, Pinto E Vairo F, Klee E, Kaiwar C, Gavrilova RH, Agre KE, Jacquemont S, Khadijé J, Giltay J, van Gassen K, Merő G, Gerkes E, Van Bon BW, Rinne T, Pfundt R, Brunner HG, Caluseriu O, Grasshoff U, Kehrer M, Haack TB, Khelifa MM, Bergmann AK, Cueto-González AM, Martorell AC, Ramachandrappa S, Sawyer LB, Fasel P, Braun D, Isis A, Superti-Furga A, McNiven V, Chitayat D, Ahmed SA, Brennenstuhl H, Schwaibolf EM, Battisti G, Parmentier B, Stevens SJC. Szakszon K, et al. Among authors: braun d. J Med Genet. 2024 Jan 19;61(2):132-141. doi: 10.1136/jmg-2022-109030. J Med Genet. 2024. PMID: 37580113
A Mild Case of Jeune Syndrome Associated with a Recurrent Missense Variant in DYNC2H1: Confirmation of a Genotype-Phenotype Correlation.
Oestreich MA, Keller F, Bovermann X, Braun D, Schiller R, Raio L, Zweier C, Casaulta C, Usemann J, Kidszun A, Popa-Todirenchi MH. Oestreich MA, et al. Among authors: braun d. Klin Padiatr. 2024 Feb;236(2):145-147. doi: 10.1055/a-2235-6201. Epub 2024 Jan 15. Klin Padiatr. 2024. PMID: 38224688 English. No abstract available.
Bayesian meta-analysis of penetrance for cancer risk.
Ruberu TLM, Braun D, Parmigiani G, Biswas S. Ruberu TLM, et al. Among authors: braun d. Biometrics. 2024 Mar 27;80(2):ujae038. doi: 10.1093/biomtc/ujae038. Biometrics. 2024. PMID: 38819308
Early trajectories of virological and immunological biomarkers and clinical outcomes in patients admitted to hospital for COVID-19: an international, prospective cohort study.
Jensen TO, Murray TA, Grandits GA, Jain MK, Grund B, Shaw-Saliba K, Matthay MA, Abassi M, Ardelt M, Baker JV, Chen P, Dewar RL, Goodman AL, Hatlen TJ, Highbarger HC, Holodniy M, Lallemand P, Laverdure S, Leshnower BG, Looney D, Moschopoulos CD, Mugerwa H, Murray DD, Mylonakis E, Nagy-Agren S, Rehman MT, Rupert A, Stevens R, Turville S, Weintrob A, Wick K, Lundgren J, Ko ER; ACTIV-3/TICO Study Group. Jensen TO, et al. Lancet Microbe. 2024 May 27:S2666-5247(24)00015-6. doi: 10.1016/S2666-5247(24)00015-6. Online ahead of print. Lancet Microbe. 2024. PMID: 38815595 Free article.
Identification of human TRIAC transmembrane transporters.
Becker PC, Güth-Steffens MM, Lazarow K, Sonntag N, Braun D, Masfaka SA, Renko K, Schomburg L, Köhrle J, von Kries JP, Schweizer U, Krause G, Protze J. Becker PC, et al. Among authors: braun d. Thyroid. 2024 May 27. doi: 10.1089/thy.2023.0592. Online ahead of print. Thyroid. 2024. PMID: 38801167
1,711 results