Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Hanne H Owen"'
Autor:
Oliver Bartsch, Nanna Dahl Rendtorff, Toke Bek, Julia Doll, Karen Østergaard, Béatrice Bocquet, Katherine Harrop-Griffiths, Shamima Rahman, Wojciech Kopec, Sture Lindholm, Claes Möller, Himanshu Khandelia, Kaukab Rajput, Barbara Vona, Cécile Delettre, Hanne Jensen, Lucinda Carr, Louise C. Wilson, Hanne Poulsen, Michael Bille, Maria Bitner-Glindzicz, Tobias Moser, Linda M. Luxon, Lisbeth Tranebjærg, Thomas Haaf, Troels Lyngbye, Nicola Strenzke, Hendrik Rosewich, Christian P. Hamel, Hanne H Owen, Tony Sirimanna
Publikováno v:
Tranebjærg, L, Strenzke, N, Lindholm, S, Rendtorff, N D, Poulsen, H, Khandelia, H, Kopec, W, Lyngbye, T J B, Hamel, C, Delettre, C, Bocquet, B, Bille, M, Owen, H H, Bek, T, Jensen, H, Østergaard, K, Möller, C, Luxon, L, Carr, L, Wilson, L, Rajput, K, Sirimanna, T, Harrop-Griffiths, K, Rahman, S, Vona, B, Doll, J, Haaf, T, Bartsch, O, Rosewich, H, Moser, T & Bitner-Glindzicz, M 2018, ' The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management ', Human Genetics, vol. 137, no. 2, pp. 111-127 . https://doi.org/10.1007/s00439-017-1862-z
Human Genetics
Human Genetics, Springer Verlag, 2018, 137 (2), pp.111--127. ⟨10.1007/s00439-017-1862-z⟩
Tranebjærg, L, Strenzke, N, Lindholm, S, Rendtorff, N D, Poulsen, H, Khandelia, H, Kopec, W, Lyngbye, T J B, Hamel, C, Delettre, C, Bocquet, B, Bille, M, Owen, H H, Bek, T, Jensen, H, Østergaard, K, Möller, C, Luxon, L, Carr, L, Wilson, L, Rajput, K, Sirimanna, T, Harrop-Griffiths, K, Rahman, S, Vona, B, Doll, J, Haaf, T, Bartsch, O, Rosewich, H, Moser, T & Bitner-Glindzicz, M 2018, ' The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management ', Human Genetics, vol. 137, no. 2, pp. 111–127 . https://doi.org/10.1007/s00439-017-1862-z
Human Genetics
Human Genetics, Springer Verlag, 2018, 137 (2), pp.111--127. ⟨10.1007/s00439-017-1862-z⟩
Tranebjærg, L, Strenzke, N, Lindholm, S, Rendtorff, N D, Poulsen, H, Khandelia, H, Kopec, W, Lyngbye, T J B, Hamel, C, Delettre, C, Bocquet, B, Bille, M, Owen, H H, Bek, T, Jensen, H, Østergaard, K, Möller, C, Luxon, L, Carr, L, Wilson, L, Rajput, K, Sirimanna, T, Harrop-Griffiths, K, Rahman, S, Vona, B, Doll, J, Haaf, T, Bartsch, O, Rosewich, H, Moser, T & Bitner-Glindzicz, M 2018, ' The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management ', Human Genetics, vol. 137, no. 2, pp. 111–127 . https://doi.org/10.1007/s00439-017-1862-z
International audience; Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing impairment (CAPOS) is a rare clinically distinct syndrome caused by a single dominant missense mutation, c.2452G\textgreaterA, p.Glu818Lys, in AT
Publikováno v:
BMC Ear, Nose, and Throat Disorders
Owen, H H, Rosborg, J & Gaihede, M 2006, ' Cholesteatoma of the external ear canal: etiological factors, symptoms and clinical findings in a series of 48 cases ', B M C Ear, Nose and Throat Disorders, vol. 6, 16 . https://doi.org/10.1186/1472-6815-6-16
BMC Ear, Nose and Throat Disorders, Vol 6, Iss 1, p 16 (2006)
Owen, H H, Rosborg, J & Gaihede, M 2006, ' Cholesteatoma of the external ear canal: etiological factors, symptoms and clinical findings in a series of 48 cases ', B M C Ear, Nose and Throat Disorders, vol. 6, 16 . https://doi.org/10.1186/1472-6815-6-16
BMC Ear, Nose and Throat Disorders, Vol 6, Iss 1, p 16 (2006)
Background To evaluate symptoms, clinical findings, and etiological factors in external ear canal cholesteatoma (EECC). Method Retrospective evaluation of clinical records of all consecutive patients with EECC in the period 1979 to 2005 in a tertiary
Autor:
Louise M Binderup M; Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark., Smerdel M; Department of Clinical Genetics, Lillebælt Hospital, University Hospital of Southern Denmark, Vejle, Denmark., Borgwadt L; Center for Genomics Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Beck Nielsen SS; Centre for Rare Diseases, Aarhus University Hospital, Aarhus, Denmark., Madsen MG; Department of Urology, Aarhus University Hospital, Aarhus, Denmark., Møller HU; Department of Opthalmology, Aarhus University Hospital, Aarhus, Denmark., Kiilgaard JF; Department of Opthalmology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Friis-Hansen L; Department of Clinical Biochemistry, Bispebjerg Hospital, Copenhagen, Denmark., Harbud V; The Association for vHL Patients and their Families, Denmark., Cortnum S; Department of Neurosurgery, Aarhus University Hospital, Aarhus, Denmark., Owen H; Ear-Nose-Throat Department, Holstebro Hospital, Holstebro, Denmark., Gimsing S; Formerly Department of Audiology, Vejle Hospital, Vejle, Denmark., Friis Juhl HA; Department of Endocrinology and Metabolism, Odense University Hospital, Odense, Denmark., Munthe S; Department of Neurosurgery, University Hospital of Southern Denmark, Odense, Denmark., Geilswijk M; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark., Rasmussen ÅK; Department of Medical Endocrinology and Metabolism, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Møldrup U; Department of Urology, Aarhus University Hospital, Aarhus, Denmark., Graumann O; Department of Radiology, Odense University Hospital, Odense, Denmark., Donskov F; Department of Oncology, University Hospital of Southern Denmark, Esbjerg, Denmark; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark., Grønbæk H; Department of Hepatology and Gastroenterology, Aarhus University Hospital, Aarhus, Denmark., Stausbøl-Grøn B; Department of Radiology, Aarhus University Hospital, Aarhus, Denmark., Schaffalitzky de Muckadell O; Department of Medical Gastroenterology S, Odense University Hospital, Odense, Denmark., Knigge U; Department of Endocrinology and Surgery, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Dam G; Department of Hepatology and Gastroenterology, Aarhus University Hospital, Aarhus, Denmark., Wadt KA; Department of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Bøgeskov L; Department of Neurosurgery, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Bagi P; Department of Urology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Lund L; Department of Urology, University Hospital of Southern Denmark, Odense, Denmark., Stochholm K; Department of Internal Medicine and Endocrinology, Aarhus University Hosiptal, Aarhus, Denmark; Center for Rare Diseases, Aarhus University Hospital, Aarhus, Denmark., Ousager LB; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark; Department of Clinical Research, University of Southern Denmark, Odense, Denmark., Sunde L; Department of Clinical Genetics, Aalborg University Hospital, Aalborg, Denmark; Department of Biomedicine, Aarhus University, Aarhus, Denmark. Electronic address: l.sunde@rn.dk.
Publikováno v:
European journal of medical genetics [Eur J Med Genet] 2022 Aug; Vol. 65 (8), pp. 104538. Date of Electronic Publication: 2022 Jun 13.
Autor:
Bønløkke S; ENT Department, Regional Hospital Gødstrup, Herning, Denmark., Owen H; ENT Department, Regional Hospital Gødstrup, Herning, Denmark., Ovesen T; ENT Department, Regional Hospital Gødstrup, Herning, Denmark.; Department of Clinical Medicine, Aarhus University, Aarhus, Denmark., Devantier L; ENT Department, Regional Hospital Gødstrup, Herning, Denmark.; Department of Clinical Medicine, Aarhus University, Aarhus, Denmark.
Publikováno v:
Acta oto-laryngologica [Acta Otolaryngol] 2022 Mar-Apr; Vol. 142 (3-4), pp. 229-233. Date of Electronic Publication: 2022 Mar 15.