Published in 2024

Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis

Altunoglu, U., Palencia-Campos, A., Güneş, N., Turgut, G. T., Nevado, J., Lapunzina, P., Valencia, M., Iturrate, A., Otaify, G., Elhossini, R., Ashour, A., K Amin, A., Elnahas, R. F., Fernandez-Nuñez, E., Flores, C-L., Arias, P., Tenorio, J., Chamorro Fernández, C. I., Güven, Y., Özsu, E., & 13 flereEklioğlu, B. S., Ibarra-Ramirez, M., Diness, B. R., Burnyte, B., Ajmi, H., Yüksel, Z., Yıldırım, R., Ünal, E., Abdalla, E., Aglan, M., Kayserili, H., Tuysuz, B. & Ruiz-Pérez, V., 26 mar. 2024, (E-pub ahead of print) I: Journal of Medical Genetics.

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Variant in the synaptonemal complex protein SYCE2 associates with pregnancy loss through effect on recombination

Steinthorsdottir, V., Halldorsson, B. V., Jonsson, H., Palsson, G., Oddsson, A., Westergaard, D., Arnadottir, G. A., Stefansdottir, L., Banasik, K., Esplin, M. S., Hansen, T. F., Brunak, S., Nyegaard, M., Ostrowski, S. R., Pedersen, O. B. V., Erikstrup, C., Thorleifsson, G., Nadauld, L. D., Haraldsson, A., Steingrimsdottir, T., & 9 flereTryggvadottir, L., Jonsdottir, I., Gudbjartsson, D. F., Hoffmann, E. R., Sulem, P., Holm, H., Nielsen, H. S., Stefansson, K. & DBDS genomics consortium, 29 jan. 2024, (E-pub ahead of print) I: Nature Structural and Molecular Biology.

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation

Accogli, A., Shakya, S., Yang, T., Insinna, C., Kim, S. Y., Bell, D., Butov, K. R., Severino, M., Niceta, M., Scala, M., Lee, H. S., Yoo, T., Stauffer, J., Zhao, H., Fiorillo, C., Pedemonte, M., Diana, M. C., Baldassari, S., Zakharova, V., Shcherbina, A., & 38 flereRodina, Y., Fagerberg, C., Roos, L. S., Wierzba, J., Dobosz, A., Gerard, A., Potocki, L., Rosenfeld, J. A., Lalani, S. R., Scott, T. M., Scott, D., Azamian, M. S., Louie, R., Moore, H. W., Champaigne, N. L., Hollingsworth, G., Torella, A., Nigro, V., Ploski, R., Salpietro, V., Zara, F., Pizzi, S., Chillemi, G., Ognibene, M., Cooney, E., Do, J., Linnemann, A., Larsen, M. J., Specht, S., Walters, K. J., Choi, H-J., Choi, M., Tartaglia, M., Youkharibache, P., Chae, J-H., Capra, V., Park, S-G. & Westlake, C. J., 8 jan. 2024, I: Nature Communications. 15, 1, 365.

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Vejen til kræftdiagnose for ældre

Jensen, H., Virgilsen, L. F., Rasmussen, L. A., Qvortrup, C., Jørgensen, T. L., Vedsted, P. & Frederiksen, H., 22 jan. 2024, I: Ugeskrift for Laeger. 186, 4, V07230474.

Publikation: Bidrag til tidsskriftReviewpeer review

Ventilation perfusion functional difference images in lung SPECT: A linear and symmetrical scale as an alternative to the ventilation perfusion ratio

de Nijs, R., Berg, R. M. G., Lindskov Hansen, S. & Mortensen, J., 8 feb. 2024, (E-pub ahead of print) I: Physica Medica. 119, s. 103306

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Very preterm studies remain a challenge because of limited cohort sizes

Borg, K., Hansen, B. M., Klamer, A. & Zachariassen, G., 27 feb. 2024, (E-pub ahead of print) I: Acta paediatrica.

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Visual migraine aura iconography: A multicentre, cross-sectional study of individuals with migraine with aura

Viana, M., Hougaard, A., Tronvik, E., Winnberg, I. G., Ambrosini, A., Perrotta, A., Do, T. P., Al-Karagholi, M. A-M., Fominykh, M., Sihabdeen, S., Gobbi, C. & Zecca, C., feb. 2024, I: Cephalalgia : an international journal of headache. 44, 2, 3331024241234809.

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Vitamin D3 among neonates born after in vitro fertilization compared with neonates from the general population

Walker, K. C., Pristed, S. G., Thorsteinsdottir, F., Specht, I. O., Cohen, A., Heitmann, B. L. & Kesmodel, U. S., 18 apr. 2024, (E-pub ahead of print) I: Acta Obstetricia et Gynecologica Scandinavica.

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Volunteer Responder Interventions in Out-of-Hospital Cardiac Arrest in Urban, Suburban, and Rural Areas

Kragh, A. R., Gregers, M. T., Andelius, L., Grabmayr, A. J., Kollander, L., Kjærulf, V. E., Kjølbye, J. S., Sheikh, A. P., Ersbøll, A. K., Folke, F. & Hansen, C. M., 13 feb. 2024, (E-pub ahead of print) I: Journal of the American Heart Association. s. e032629

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

War veteranship in the welfare state - The precarity of Danish wounded veterans

Krause, E., 5 feb. 2024, 97 s.

Publikation: Bog/antologi/afhandling/rapportPh.d.-afhandling

Weight Loss for Patients with Gout and Concomitant Obesity: A Proof-of-Concept Randomized Trial

Christensen, R., Zobbe, K., Nielsen, S. M., Stamp, L. K., Henriksen, M., Overgaard, A. F., Dreyer, L., Knop, F. K., Singh, J. A., Doherty, M., Richette, P., Astrup, A., Ellegaard, K., Bartels, E. M., Boesen, M., Gudbergsen, H., Bliddal, H. & Kristensen, L. E., 2 jan. 2024, (E-pub ahead of print) I: Arthritis and Rheumatology.

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

What Do We Really Know About the Effect of Prolonged Heart Rhythm Monitoring After Stroke?

Ihle-Hansen, H., Hagberg, G., Ihle-Hansen, H., Sandset, E. C., Andrade, J. G., Mandrola, J. & Diederichsen, S. Z., 8 mar. 2024, (E-pub ahead of print) I: Stroke.

Publikation: Bidrag til tidsskriftKommentar/debatForskningpeer review

What is cerebral blood volume good for?

Greisen, G., 16 jan. 2024, (E-pub ahead of print) I: Acta paediatrica.

Publikation: Bidrag til tidsskriftLederpeer review

What is the Injury Incidence and Profile in Professional Male Ice Hockey? A Systematic Review

Cattaneo, M., Ramponi, C. & Thorborg, K., 1 jan. 2024, I: International journal of sports physical therapy. 19, 1, s. 1398-1409 12 s.

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

What methods are used in research of firsthand experiences with online self-harming and suicidal behavior? A scoping review

Holm, M. E., Østergaard, L. D., Aamund, K., Jørgensen, K., Midtgaard, J., Vinberg, M. & Nordentoft, M., 25 jan. 2024, (E-pub ahead of print) I: Nordic Journal of Psychiatry. s. 1-16 16 s.

Publikation: Bidrag til tidsskriftReviewpeer review

What really matters with thrombocytopenia: absolute value, timing, etiology or management? Author's reply

Anthon, C. T., Pène, F., Chawla, S., Puxty, K. & Russell, L., 8 jan. 2024, (E-pub ahead of print) I: Intensive Care Medicine.

Publikation: Bidrag til tidsskriftKommentar/debatForskningpeer review

What’s going on in the clinical examination room? an exploratory and comparative study of two types of clinical exams and their meaning for nursing students in the final year of the nursing education

Jensen, C., Bertelsen, T. E., Kuipers, F. L., Jessiman, S. R., Andersen, L. R., Sørensen, A. G., Larsen, N. S. & Bernild, C., 2024, I: Journal of Nursing Education and Practice. 14, 7, s. 1-12 12 s.

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

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