Zobrazeno 1 - 10 of 28 pro vyhledávání: '"Hellfritzsch MB"'
2
Akademický článek
Compound heterozygosity for two variants in BMP5 in human skeletal dysostosis with atrioventricular septal defect.
Autor: Gregersen PA; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.; Centre for Rare Diseases, Department of Paediatrics and Adolescent Medicine, AUH, Aarhus, Denmark.; Department of Clinical Medicine, Health, Aarhus University, Aarhus, Denmark., Hammarsjö A; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden., Graversen L; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark., Brix N; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.; Department of Public Health, Research Unit for Epidemiology, Aarhus University, Aarhus, Denmark., Lindelöf H; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden., Jensen UB; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.; Department of Biomedicine, Aarhus University, Aarhus, Denmark., Farholt S; Centre for Rare Diseases, Department of Paediatrics and Adolescent Medicine, AUH, Aarhus, Denmark.; Rigshospitalet, Centre for Rare Diseases, Department of Paediatrics and Adolescent Medicine, Copenhagen, Denmark., Rubak S; Department of Clinical Medicine, Health, Aarhus University, Aarhus, Denmark.; Department of Paediatrics and Adolescent Medicine, AUH, Aarhus, Denmark.; Center for Paediatric Pulmonology and Allergology, Department of Child and Adolescent Health, AUH, Aarhus, Denmark., Bjerre J; Department of Paediatrics and Adolescent Medicine, AUH, Aarhus, Denmark., Piticchio SG; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden., Terkelsen T; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.; Department of Biomedicine, Aarhus University, Aarhus, Denmark., Nishimura G; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Radiology, Musashino-Yowakai Hospital, Tokyo, Japan., Hellfritzsch MB; Department of Radiology, AUH, Aarhus, Denmark., Grigelioniene G; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.
Publikováno v: Clinical genetics [Clin Genet] 2024 Sep 06. Date of Electronic Publication: 2024 Sep 06.
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3
Akademický článek
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 LK; Department of Dermatology, Aarhus University Hospital, Aarhus, Denmark; Department of Clinical Medicine, Aarhus University, Aarhus, Denmark. Electronic address: laujoerg@rm.dk., Herlin MK; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark., Blechingberg J; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark., Rønholt K; Department of Dermatology, Aarhus University Hospital, Aarhus, Denmark., Graversen L; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark., Schmidt SAJ; Department of Dermatology, Aarhus University Hospital, Aarhus, Denmark; Department of Clinical Epidemiology, Aarhus University Hospital, Aarhus, Denmark., Jørgensen MW; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark., Hellfritzsch MB; Department of Radiology, Aarhus University Hospital, Aarhus, Denmark., Hald JD; Department of Endocrinology and Internal Medicine, Aarhus University Hospital, Aarhus, Denmark; Centre for Rare Diseases, Aarhus University Hospital, Aarhus, Denmark., Beck-Nielsen SS; Centre for Rare Diseases, Aarhus University Hospital, Aarhus, Denmark., Gjørup H; Centre for Oral Health in Rare Diseases, Department of Dental and Maxillofacial Surgery, Aarhus University Hospital, Aarhus, Denmark., Andersen BN; Centre for Rare Diseases, Aarhus University Hospital, Aarhus, Denmark., Gregersen PA; Department of Clinical Medicine, Aarhus University, Aarhus, Denmark; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark; Centre for Rare Diseases, Aarhus University Hospital, Aarhus, Denmark., Sommerlund M; Department of Dermatology, Aarhus University Hospital, Aarhus, Denmark; Department of Clinical Medicine, Aarhus University, Aarhus, Denmark.
Publikováno v: European journal of medical genetics [Eur J Med Genet] 2024 Jun; Vol. 69, pp. 104937. Date of Electronic Publication: 2024 Apr 02.
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4
Akademický článek
Pubofemoral distances correlate to acetabular morphology and sonological instability in screening for hip dysplasia.
Autor: Husum HC; Interdisciplinary Orthopaedics, Aalborg University Hospital, Aalborg, Denmark.; Danish Paedatric Orthopaedic Research, Aarhus University Hospital, Aarhus, Denmark., Hellfritzsch MB; Danish Paedatric Orthopaedic Research, Aarhus University Hospital, Aarhus, Denmark.; Department of Radiology, Aarhus University Hospital, Aarhus, Denmark., Maimburg RD; Danish Paedatric Orthopaedic Research, Aarhus University Hospital, Aarhus, Denmark.; Department of Children's Orthopaedics, Aarhus University Hospital, Aarhus, Denmark., Møller-Madsen B; Danish Paedatric Orthopaedic Research, Aarhus University Hospital, Aarhus, Denmark.; Department of Midwifery, University College of Northern Denmark, Aalborg East, Denmark., Henriksen M; Danish Paedatric Orthopaedic Research, Aarhus University Hospital, Aarhus, Denmark.; Department of Radiology, Aarhus University Hospital, Aarhus, Denmark., Lapitskaya N; Danish Paedatric Orthopaedic Research, Aarhus University Hospital, Aarhus, Denmark.; Department of Radiology, Aarhus University Hospital, Aarhus, Denmark., Kold S; Interdisciplinary Orthopaedics, Aalborg University Hospital, Aalborg, Denmark.; Danish Paedatric Orthopaedic Research, Aarhus University Hospital, Aarhus, Denmark., Rahbek O; Interdisciplinary Orthopaedics, Aalborg University Hospital, Aalborg, Denmark.; Danish Paedatric Orthopaedic Research, Aarhus University Hospital, Aarhus, Denmark.
Publikováno v: Bone & joint open [Bone Jt Open] 2024 Jan 02; Vol. 5 (1), pp. 3-8. Date of Electronic Publication: 2024 Jan 02.
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5
Akademický článek
Autor: Zabane Z; Neurologi, Fysio- og Ergoterapi, Gødstrup Regionshospital., Andresen CH; Ortopædkirurgisk Afdeling, Aarhus Universitetshospital., Bünger MH; Ortopædkirurgisk Afdeling, Aarhus Universitetshospital., Hellfritzsch MB; Røntgen og Skanning, Aarhus Universitetshospital.
Publikováno v: Ugeskrift for laeger [Ugeskr Laeger] 2023 Dec 18; Vol. 185 (51).
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6
Akademický článek
Birthweight correlates to pubo-femoral distances and α angles in hip ultrasound of newborns at 6 weeks of age: a retrospective cohort study.
Autor: Tirta M; Interdisciplinary Orthopaedics, Aalborg University Hospital, Aalborg. mariatirta96@gmail.com., Hellfritzsch MB; Danish Paediatric Orthopaedic Research, Aarhus University Hospital, Aarhus; Department of Radiology, Aarhus University Hospital, Aarhus., Maimburg RD; Danish Paediatric Orthopaedic Research, Aarhus University Hospital, Aarhus; Department of Midwifery, University College of Northern Denmark, Aalborg; Department of Clinical Medicine, Aarhus University, Aarhus; Department of Occupational Medicine, Danish Ramazzini Centre, Aarhus University Hospital, Aarhus., Henriksen M; Danish Paediatric Orthopaedic Research, Aarhus University Hospital, Aarhus; Department of Radiology, Aarhus University Hospital, Aarhus., Lapitskaya N; Danish Paediatric Orthopaedic Research, Aarhus University Hospital, Aarhus; Department of Radiology, Aarhus University Hospital, Aarhus., Kold S; IInterdisciplinary Orthopaedics, Aalborg University Hospital, Aalborg; Danish Paediatric Orthopaedic Research, Aarhus University Hospital, Aarhus., Møller-Madsen B; Danish Paediatric Orthopaedic Research, Aarhus University Hospital, Aarhus; Department of Children's Orthopaedics, Aarhus University Hospital, Aarhus, Denmark., Rahbek O; IInterdisciplinary Orthopaedics, Aalborg University Hospital, Aalborg; Danish Paediatric Orthopaedic Research, Aarhus University Hospital, Aarhus., Husum HC; Interdisciplinary Orthopaedics, Aalborg University Hospital, Aalborg; Danish Paediatric Orthopaedic Research, Aarhus University Hospital.
Publikováno v: Acta orthopaedica [Acta Orthop] 2023 Dec 13; Vol. 94, pp. 594-599. Date of Electronic Publication: 2023 Dec 13.
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7
Akademický článek
Controlled rotation of long bones by guided growth: A proof of concept study of a novel plate in cadavers.
Autor: Abood AA; Department of Orthopaedics, Center for Clinical 3D Print, Aarhus University Hospital, Aarhus, Denmark.; Danish Paediatric Orthopaedic Research, Aarhus, Denmark., Hellfritzsch MB; Danish Paediatric Orthopaedic Research, Aarhus, Denmark.; Department of Radiology, Aarhus University Hospital, Aarhus, Denmark., Møller-Madsen B; Department of Orthopaedics, Center for Clinical 3D Print, Aarhus University Hospital, Aarhus, Denmark.; Danish Paediatric Orthopaedic Research, Aarhus, Denmark.; Department of Clinical Medicine, Health, Aarhus University, Aarhus, Denmark., Brüel A; Department of Biomedicine, Health, Aarhus University, Aarhus, Denmark., Westersø TS; Additive Manufacturing, Danish Technological Institute, Aarhus, Denmark., Vedel-Smith NK; Additive Manufacturing, Danish Technological Institute, Aarhus, Denmark., Rahbek O; Danish Paediatric Orthopaedic Research, Aarhus, Denmark.; Department of Orthopaedics, Aalborg University Hospital, Aalborg, Denmark., Rölfing JD; Department of Orthopaedics, Center for Clinical 3D Print, Aarhus University Hospital, Aarhus, Denmark.; Danish Paediatric Orthopaedic Research, Aarhus, Denmark.; Department of Clinical Medicine, Health, Aarhus University, Aarhus, Denmark.
Publikováno v: Journal of orthopaedic research : official publication of the Orthopaedic Research Society [J Orthop Res] 2022 May; Vol. 40 (5), pp. 1075-1082. Date of Electronic Publication: 2021 Aug 09.
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8
Akademický článek
B3GAT3-related linkeropathy and an in-frame homozygous deletion in an adult patient.
Autor: Bolund ACS; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark. Electronic address: anbolu@rm.dk., Langdahl B; Department of Endocrinology and Internal Medicine, Aarhus University Hospital, Aarhus, Denmark; Department of Clinical Medicine, Aarhus University, Aarhus, Denmark., Laurberg TB; Department of Rheumatology, Aarhus University Hospital, Aarhus, Denmark., Hellfritzsch MB; Department of Radiology, Aarhus University Hospital, Aarhus, Denmark., Gjørup H; Center for Oral Health in Rare Diseases, Department of Oral and Maxillofacial Surgery, Aarhus University Hospital, Aarhus, Denmark., Møller-Madsen B; Department of Clinical Medicine, Aarhus University, Aarhus, Denmark; Department of Orthopedic Surgery, Aarhus University Hospital, Aarhus, Denmark., Nielsen TØ; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark., Farholt S; Centre for Rare Diseases, Department of Pediatric and Adolescent Medicine, Aarhus University Hospital, Aarhus, Denmark; Centre for Rare Diseases, Department of Pediatric and Adolescent Medicine, Rigshospitalet, Copenhagen, Denmark., Gregersen PA; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark; Centre for Rare Diseases, Department of Pediatric and Adolescent Medicine, Aarhus University Hospital, Aarhus, Denmark.
Publikováno v: European journal of medical genetics [Eur J Med Genet] 2021 Dec; Vol. 64 (12), pp. 104342. Date of Electronic Publication: 2021 Sep 16.
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9
Akademický článek
Physical child abuse demands increased awareness during health and socioeconomic crises like COVID-19.
Autor: Martinkevich P; Department of Orthopaedics, Aarhus University Hospital.; Danish Paediatric Orthopaedic Research., Larsen LL; Department of Orthopaedics, Aarhus University Hospital.; Danish Paediatric Orthopaedic Research., Graesholt-Knudsen T; Research Unit for Mental Public Health, Department of Public Health, Aarhus University., Hesthaven G; Department of Paediatrics, Aarhus University Hospital., Hellfritzsch MB; Danish Paediatric Orthopaedic Research.; Department of Radiology, Aarhus University Hospital., Petersen KK; Department of Radiology, Aarhus University Hospital., Møller-Madsen B; Department of Orthopaedics, Aarhus University Hospital.; Danish Paediatric Orthopaedic Research.; Department of Clinical Medicine, Aarhus University., Rölfing JD; Department of Orthopaedics, Aarhus University Hospital.; Danish Paediatric Orthopaedic Research.; Department of Clinical Medicine, Aarhus University.; Corporate HR, MidtSim, Central Denmark Region, Denmark.
Publikováno v: Acta orthopaedica [Acta Orthop] 2021 Dec; Vol. 92 (6), pp. 763-764. Date of Electronic Publication: 2021 Sep 10.
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10
Akademický článek
[Diagnostics and treatment of lipomas].
Autor: Keller J; johnkell@rm.dk., Borgognoni A, Sørensen FB, Hellfritzsch MB, Lücke A, Stolle LB, Petersen MM
Publikováno v: Ugeskrift for laeger [Ugeskr Laeger] 2021 Nov 01; Vol. 183 (44).
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