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The CAPOS mutation ...
The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management (vol 137, pg 111, 2018)
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- Tranebjaerg, Lisbeth (författare)
- Department of Otorhinolaryngology, Head and Neck Surgery and Audiology, Rigshospitalet/Bispebjerg, Copenhagen, Denmark; Department of Clinical Genetics, The Kennedy Center, Copenhagen University Hospital, Copenhagen, Denmark; Institute of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark
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- Strenzke, Nicola (författare)
- Auditory Systems Physiology Group, InnerEarLab, Department of Otolaryngology, University Medical Center, Göttingen, Germany
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- Lindholm, Sture (författare)
- ENT-Department, County Hospital Kalmar, Kalmar, Sweden
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- Rendtorff, Nanna D. (författare)
- Department of Clinical Genetics, The Kennedy Center, Copenhagen University Hospital, Copenhagen, Denmark
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- Poulsen, Hanne (författare)
- Institute of Biomedicine, University of Aarhus, Aarhus, Denmark
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- Khandelia, Himanshu (författare)
- MEMPHYS-Center for Biomembrane Physics, University of Southern Denmark, Odense, Denmark
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- Kopec, Wojciech (författare)
- MEMPHYS-Center for Biomembrane Physics, University of Southern Denmark, Odense, Denmark; Computational Biomolecular Dynamics Group, Max Planck Institute for Biophysical Chemistry, Göttingen, Germany
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- Lyngbye, Troels J. Brunnich (författare)
- Pediatric Department, Aarhus University Hospital, Aarhus, Denmark
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- Hamel, Christian (författare)
- Maladies Sensorielles Genetiques, Centre Hospitalier Régional Universitaire (CHRU), Montpellier, France; Institute for Neurosciences of Montpellier (INSERM U1051), Montpellier, France; Universite Montpellier, Montpellier, France
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- Delettre, Cecile (författare)
- Institute for Neurosciences of Montpellier (INSERM U1051), Montpellier, France; Universite Montpellier, Montpellier, France
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- Bocquet, Beatrice (författare)
- Maladies Sensorielles Genetiques, Centre Hospitalier Régional Universitaire (CHRU), Montpellier, France; Institute for Neurosciences of Montpellier (INSERM U1051), Montpellier, France; Universite Montpellier, Montpellier, France
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- Bille, Michael (författare)
- Department of Otorhinolaryngology, Head and Neck Surgery and Audiology, Rigshospitalet Gentofte Hospital, Hellerup, Denmark
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- Owen, Hanne H. (författare)
- Department of Audiology, Aarhus University Hospital, Aarhus, Denmark
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- Bek, Toke (författare)
- Department of Ophthalmology, Aarhus University Hospital, Aarhus, Denmark
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- Jensen, Hanne (författare)
- Eye Department, The Kennedy Centre, Glostrup Hospital Rigshospitalet, Glostrup, Denmark
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- Østergaard, Karen (författare)
- Department of Neurology, University Hospital, Aarhus, Denmark; University of Aarhus, Aarhus, Denmark
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- Möller, Claes, 1950- (författare)
- Örebro universitet,Institutionen för hälsovetenskaper,Audiological Research Centre
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- Luxon, Linda (författare)
- Department of Neurotology, National Hospital for Neurology, Queen Square, London, UK
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- Carr, Lucinda (författare)
- Department of Neurology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK
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- Wilson, Louise (författare)
- North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK
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- Rajput, Kaukab (författare)
- Cochlear Implant Department, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK
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- Sirimanna, Tony (författare)
- Department of Audiovestibular Medicine, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK
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- Harrop-Griffiths, Katherine (författare)
- Nuffield Hearing and Speech Centre, Royal National Throat Nose and Ear Hospital, London, UK
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- Rahman, Shamima (författare)
- Genetic and Genomic Medicine Programme, UCL Great Ormond Street Institute of Child Health, London, UK
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- Vona, Barbara (författare)
- Institute of Human Genetics, Julius Maximilians University, Würzburg, Germany
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- Doll, Julia (författare)
- Institute of Human Genetics, Julius Maximilians University, Würzburg, Germany
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- Haaf, Thomas (författare)
- Institute of Human Genetics, Julius Maximilians University, Würzburg, Germany
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- Bartsch, Oliver (författare)
- Institute of Human Genetics, University Medical Centre, Johannes Gutenberg University Mainz, Mainz, Germany
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- Rosewich, Hendrik (författare)
- Division of Pediatric Neurology, Department of Pediatric and Adolescent Medicine, University Medical Center, Göttingen, Germany
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- Moser, Tobias (författare)
- Institute for Auditory Neuroscience and InnerEarLab, University Medical Center, Göttingen, Germany
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- Bitner-Glindzicz, Maria (författare)
- North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK; Genetic and Genomic Medicine Programme, UCL Great Ormond Street Institute of Child Health, London, UK
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(creator_code:org_t)
- 2018-02-12
- 2018
- Engelska.
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Ingår i: Human Genetics. - : Springer. - 0340-6717 .- 1432-1203. ; 137:3, s. 279-280
- Relaterad länk:
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https://link.springe...
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https://urn.kb.se/re...
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https://doi.org/10.1...
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- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
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- Av författaren/redakt...
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Tranebjaerg, Lis ...
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Strenzke, Nicola
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Lindholm, Sture
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Rendtorff, Nanna ...
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Poulsen, Hanne
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Khandelia, Himan ...
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visa fler...
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Kopec, Wojciech
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Lyngbye, Troels ...
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Hamel, Christian
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Delettre, Cecile
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Bocquet, Beatric ...
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Bille, Michael
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Owen, Hanne H.
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Bek, Toke
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Jensen, Hanne
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Østergaard, Kare ...
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Möller, Claes, 1 ...
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Luxon, Linda
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Carr, Lucinda
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Wilson, Louise
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Rajput, Kaukab
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Sirimanna, Tony
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Harrop-Griffiths ...
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Rahman, Shamima
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Vona, Barbara
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Doll, Julia
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Haaf, Thomas
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Bartsch, Oliver
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Rosewich, Hendri ...
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Moser, Tobias
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Bitner-Glindzicz ...
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