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449 results

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CHM mutation spectrum and disease: An update at the time of human therapeutic trials.
Zeitz C, Nassisi M, Laurent-Coriat C, Andrieu C, Boyard F, Condroyer C, Démontant V, Antonio A, Lancelot ME, Frederiksen H, Kloeckener-Gruissem B, El-Shamieh S, Zanlonghi X, Meunier I, Roux AF, Mohand-Saïd S, Sahel JA, Audo I. Zeitz C, et al. Among authors: frederiksen h. Hum Mutat. 2021 Apr;42(4):323-341. doi: 10.1002/humu.24174. Epub 2021 Feb 19. Hum Mutat. 2021. PMID: 33538369 Review.
Shedding light on myopia by studying complete congenital stationary night blindness.
Zeitz C, Roger JE, Audo I, Michiels C, Sánchez-Farías N, Varin J, Frederiksen H, Wilmet B, Callebert J, Gimenez ML, Bouzidi N, Blond F, Guilllonneau X, Fouquet S, Léveillard T, Smirnov V, Vincent A, Héon E, Sahel JA, Kloeckener-Gruissem B, Sennlaub F, Morgans CW, Duvoisin RM, Tkatchenko AV, Picaud S. Zeitz C, et al. Among authors: frederiksen h. Prog Retin Eye Res. 2023 Mar;93:101155. doi: 10.1016/j.preteyeres.2022.101155. Epub 2023 Jan 19. Prog Retin Eye Res. 2023. PMID: 36669906 Free article. Review.
Serum Phthalate Concentrations and Biomarkers of Oxidative Stress in Adipose Tissue in a Spanish Adult Cohort.
Pérez-Díaz C, Pérez-Carrascosa FM, Riquelme-Gallego B, Villegas-Arana E, Armendariz AJ, Galindo-Ángel J, Frederiksen H, León J, Requena P, Arrebola JP. Pérez-Díaz C, et al. Among authors: frederiksen h. Environ Sci Technol. 2024 May 7;58(18):7719-7730. doi: 10.1021/acs.est.3c07150. Epub 2024 Apr 23. Environ Sci Technol. 2024. PMID: 38651840 Free PMC article.
Phthalates and substitute plasticizers: Main achievements from the European human biomonitoring initiative HBM4EU.
Gerofke A, Lange R, Vogel N, Schmidt P, Weber T, David M, Frederiksen H, Baken K, Govarts E, Gilles L, Martin LR, Martinsone Ž, Santonen T, Schoeters G, Scheringer M, Domínguez-Romero E, López ME, Calvo AC, Koch HM, Apel P, Kolossa-Gehring M. Gerofke A, et al. Among authors: frederiksen h. Int J Hyg Environ Health. 2024 Apr 16;259:114378. doi: 10.1016/j.ijheh.2024.114378. Online ahead of print. Int J Hyg Environ Health. 2024. PMID: 38631089 Free article. Review.
High incidence of imperforate vagina in ADGRA3-deficient mice.
Kvam JM, Nybo ML, Torz L, Sustarsic RK, Jensen KHR, Nielsen JE, Frederiksen H, Gadgaard S, Spiess K, Poulsen SS, Thomsen JS, Cowin P, Blomberg Jensen M, Kurita T, Rosenkilde MM. Kvam JM, et al. Among authors: frederiksen h. BMC Biol. 2024 Apr 8;22(1):77. doi: 10.1186/s12915-024-01873-6. BMC Biol. 2024. PMID: 38589878 Free PMC article.
Cohort profile: The Copenhagen Analgesic Study-The COPANA cohort.
Fischer MB, Mola G, Scheel L, Wraae KB, Rom AL, Frederiksen H, Johannsen TH, Almstrup K, Sundberg K, Hegaard HK, Juul A, Hagen CP. Fischer MB, et al. Among authors: frederiksen h. Paediatr Perinat Epidemiol. 2024 Mar 7. doi: 10.1111/ppe.13058. Online ahead of print. Paediatr Perinat Epidemiol. 2024. PMID: 38453250
449 results