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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.
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
Clinical characterisation and outcomes of human clade IIb mpox virus disease - a European multicentre observational cohort study (MOSAIC).
Pesonel E, Laouénan C, Guiraud L, Bourner J, Hoffmann I, Molino D, Tardivon C, Bachelet D, Mentré F, Amstutz A, Merson L, Rojek A, Cervantes Gonzalez M, Antinori A, Castagna A, Nozza S, Pourcher V, Libois A, Dunning J, Tacconelli E, Hites M, De La Calle Prieto F, Horby P, Yazdanpanah Y, Calmy A, Lescure FX, Olliaro P; MOSAIC Study Group. Pesonel E, et al. Clin Infect Dis. 2025 Jan 3:ciae657. doi: 10.1093/cid/ciae657. Online ahead of print. Clin Infect Dis. 2025. PMID: 39749987
Femoral or Radial Secondary Access in TAVR: A Subanalysis From the Multicenter PULSE Registry.
Grundmann D, Kim W, Kellner C, Adam M, Braun D, Tamm AR, Meertens M, Hamm CW, Bleiziffer S, Gmeiner J, Sedaghat A, Leistner D, Renker M, Wienemann H, Charitos E, Linnemann M, Zapustas N, Juri B, Salem M, Dreger H, Goßling A, Nahif A, Conradi L, Schofer N, Schäfer A, Popara J, Sudo M, Potratz M, Geyer M, Vorpahl M, Frank D, Rudolph TK, Seiffert M. Grundmann D, et al. Among authors: braun d. JACC Cardiovasc Interv. 2024 Dec 23;17(24):2923-2932. doi: 10.1016/j.jcin.2024.09.020. JACC Cardiovasc Interv. 2024. PMID: 39722273 Free article.
1,769 results