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2017, Clinics in developmental medicine (unnumbered), ISBN 9781909962835, xxv, 225 pages
Among the vast body of literature that has grown around Rett syndrome, this volume is the first to be aimed at both clinicians and researchers. It presents a... 
Rett syndrome | Treatment
Book
Journal Article
BMC Neuroscience, ISSN 1471-2202, 02/2010, Volume 11, Issue 1, pp. 19 - 19
Journal Article
Nature Reviews Neurology, ISSN 1759-4758, 05/2011, Volume 7, Issue 6, pp. 312 - 314
Advances in the clinical and genetic understanding of Rett syndrome have meant that existing diagnostic guidelines for this neurodevelopmental disorder need to... 
Genetic aspects | Diagnosis | Research | Rett syndrome
Journal Article
F1000Research, ISSN 2046-1402, 2015, Volume 4, p. 1490
Rett syndrome is an extremely disabling X-linked nervous system disorder that mainly affects girls in early childhood and causes autism-like behavior, severe... 
Developmental & Pediatric Neurology | Medical Genetics | Congenital Heart Disease | Neuronal Signaling Mechanisms | Neurogenetics | Cell Signaling | Neurodevelopment | Control of Gene Expression
Journal Article
Pediatric neurology briefs, ISSN 1043-3155, 12/2016, Volume 30, Issue 12, p. 45
Investigators from Institut für Medizinische Genetik und Humangenetik have highlighted the role of compound heterozygous variants in two German brothers with... 
Microcephaly | Hypertonia | Intractable Epilepsy
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, 2016, Volume 48, Issue 10, pp. 1185 - 1192
Journal Article
NATURE REVIEWS NEUROLOGY, ISSN 1759-4758, 06/2011, Volume 7, Issue 6, pp. 312 - 314
Journal Article
neurogenetics, ISSN 1364-6745, 1/2018, Volume 19, Issue 1, pp. 41 - 47
Journal Article
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 08/2019, Volume 179, Issue 8, pp. 1556 - 1564
Journal Article