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Molecular Genetics and Metabolism, ISSN 1096-7192, 02/2019, Volume 126, Issue 2, pp. S42 - S43
Journal Article
Journal of the Peripheral Nervous System, ISSN 1085-9489, 06/2019, Volume 24, Issue 2, pp. 207 - 212
Mutations in the GJB1 gene are the second most frequent cause of Charcot‐Marie‐Tooth disease (CMT), accounting for approximately 10% of CMT cases worldwide. We... 
CMTX | mutation | GJB1 | connexin 32 | hereditary neuropathy | HEREDITARY MOTOR | SUBTYPES | GJB1 MUTATIONS | SENSORY NEUROPATHY | NEUROSCIENCES | CLINICAL NEUROLOGY | Genetic research | Charcot-Marie-Tooth disease | Genetic aspects | Nerve conduction | Coding | Gjb1 gene | Neuropathy | Mutation | Females
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 02/2019, Volume 126, Issue 2, pp. S32 - S32
Journal Article
Journal of Pain and Symptom Management, ISSN 0885-3924, 07/2018, Volume 56, Issue 1, p. 146
The mucopolysaccharidosis (MPS) constitutes a heterogeneous group of rare genetic disorders caused by enzymatic deficiencies that lead to the accumulation of... 
Legs | Carpal tunnel syndrome | Genetic disorders | Facial pain | Clinical skills | Medical treatment | Repetitive strain injuries | Mucopolysaccharidosis | Health education | Patients | Accumulation | Chronic pain | Quality of life | Health information | Entrapment | Pain | Pain management | Questionnaires | Clinical guidelines | Observation | Bones | Relief
Journal Article
Nature Genetics, ISSN 1061-4036, 2014, Volume 46, Issue 5, pp. 503 - 509
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 02/2014, Volume 111, Issue 2, pp. S71 - S71
Journal Article
Journal Article
by Anderson, Beverley H and Kasher, Paul R and Mayer, Josephine and Szynkiewicz, Marcin and Jenkinson, Emma M and Bhaskar, Sanjeev S and Urquhart, Jill E and Daly, Sarah B and Dickerson, Jonathan E and O'Sullivan, James and Leibundgut, Elisabeth Oppliger and Muter, Joanne and Abdel-Salem, Ghada M. H and Babul-Hirji, Riyana and Baxter, Peter and Berger, Anea and Bonafé, Luisa and Brunstom-Hernandez, Janice E and Buckard, Johannes A and Chitayat, David and Chong, Wui K and Cordelli, Duccio M and Ferreira, Patrick and Fluss, Joel and Forrest, Ewan H and Franzoni, Emilio and Garone, Caterina and Hammans, Simon R and Houge, Gunnar and Hughes, Imelda and Jacquemont, Sebastien and Jeannet, Pierre-Yves and Jefferson, Rosalind J and Kumar, Ram and Kutschke, Georg and Lundberg, Staffan and Lourenço, Charles M and Mehta, Ramesh and Naidu, Sakkubai and Nischal, Ken K and Nunes, Luís and Ounap, Katrin and Philippart, Michel and Prabhakar, Prab and Risen, Sarah R and Schiffmann, Raphael and Soh, Calvin and Stephenson, John B. P and Stewart, Helen and Stone, Jon and Tolmie, John L and van der Knaap, Marjo S and Vieira, Jose P and Vilain, Catheline N and Wakeling, Emma L and Wermenbol, Vanessa and Whitney, Anea and Lovell, Simon C and Meyer, Stefan and Livingston, John H and Baerlocher, Gabriela M and Black, Graeme C. M and Rice, Gillian I and Crow, Yanick J and Medicinska fakulteten and Medicinska och farmaceutiska vetenskapsområdet and Institutionen för kvinnors och barns hälsa and Uppsala universitet
Nature genetics, ISSN 1061-4036, 2012, Volume 44, Issue 3, pp. 338 - 342
Journal Article
Nature Genetics, ISSN 1061-4036, 11/2012, Volume 44, Issue 11, pp. 1243 - 1248
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 04/2017, Volume 54, Issue 4, pp. 288 - 296
Journal Article
Nature Genetics, ISSN 1061-4036, 07/2009, Volume 41, Issue 7, pp. 829 - U89
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 02/2019, Volume 126, Issue 2, pp. S61 - S61
Journal Article
Nature genetics, ISSN 1061-4036, 2016, Volume 48, Issue 10, pp. 1185 - 1192
Journal Article