Clinical presentation and genetics of tricho-rhino-phalangeal syndrome (TRPS) type 1: A single-center case series of 15 patients and seven novel TRPS1 variants

Autor: Herlin, Laura Krogh, Herlin, Morten Krogh, Blechingberg, Jenny, Rønholt, Kirsten, Graversen, Lise, Schmidt, Sigrun A.J., Jørgensen, Mette Warming, Hellfritzsch, Michel Bach, Hald, Jannie Dahl, Beck-Nielsen, Signe Sparre, Gjørup, Hans, Andersen, Brian Nauheimer, Gregersen, Pernille Axél, Sommerlund, Mette

Publikováno v: In European Journal of Medical Genetics June 2024 69

Phenotypic presentations of Hajdu-Cheney syndrome according to age – 5 distinct clinical presentations

Autor: Graversen, Lise, Handrup, Mette Møller, Irving, Melita, Hove, Hanne, Diness, Birgitte Rode, Risom, Lotte, Svaneby, Dea, Aagaard, Mads Malik, Vogel, Ida, Gjørup, Hans, Davidsen, Michael, Hellfritzsch, Michel Bach, Lauridsen, Eva, Gregersen, Pernille Axél

Publikováno v: In European Journal of Medical Genetics February 2020 63(2)

A prospective study of high resolution ultrasound in brachial plexopathies – Correlation with electrophysiological measurements

Autor: Jakobsen, Rune Lau, Fuglsang-Frederiksen, Anders, Hellfritzsch, Michel Bach, Qerama, Erisela

Publikováno v: In Clinical Neurophysiology July 2019 130(7):1144-1150

Point of care pubo-femoral distance ultrasound outperforms traditional selective screening for hip dysplasia

Autor: Husum, Hans-Christen, Hellfritzsch, Michel Bach, Maimburg, Rikke Damkjær, Møller-Madsen, Bjarne, Henriksen, Mads, Lapitskaya, Natallia, Kold, Søren Vedding, Rahbek, Ole

Publikováno v: Husum, H-C, Hellfritzsch, M B, Maimburg, R D, Møller-Madsen, B, Henriksen, M, Lapitskaya, N, Kold, S V & Rahbek, O 2023, ' Point of care pubo-femoral distance ultrasound outperforms traditional selective screening for hip dysplasia ', European Paediatric Orthopaedic Society 41st annual meeting, Krakow, Poland, 29/03/2023-01/04/2023 . < https://journals.sagepub.com/doi/abs/10.1177/18632521231155686 >

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dris___00956::f92e6212215de9d1800e4987d02ab40e
https://vbn.aau.dk/da/publications/ca1ed7a0-342e-446d-8aca-bd34ea7d9abe

What is the association between MRI and conventional radiography in measuring femoral head migration?

Autor: Husum, Hans-Christen^1,2, Hellfritzsch, Michel Bach^2,3, Henriksen, Mads^2,3, Duch, Kirsten Skjaerbaek⁴, Gottliebsen, Martin^2,5, Rahbek, Ole^1,2

Publikováno v: Acta Orthopaedica. Jun2021, Vol. 92 Issue 3, p269-273. 5p. 1 Black and White Photograph, 3 Charts, 1 Graph.