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Medical Genetics

Part of the research area Basic Medicine

Latest publications

KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia
M. Pennings, M. I. Schouten, J. van Gaalen, R. P. P. Meijer, S. T. de Bot et al.
European Journal of Human Genetics, Journal article 2020
Journal article

Gene replacement therapy after neuropathy onset provides therapeutic benefit in a model of CMT1X
A. Kagiava, J. Richter, C. Tryfonos, C. Karaiskos, A. J. Heslegrave et al.
Human molecular genetics, Journal article 2019
Journal article

FET family fusion oncoproteins target the SWI/SNF chromatin remodeling complex
Malin Lindén, Christer Thomsen, Pernilla Grundevik, Emma Jonasson, Daniel Andersson et al.
EMBO Reports, Journal article 2019
Journal article

beta-Mannosidosis caused by a novel homozygous intragenic inverted duplication in MANBA
Maria K. Blomqvist, M. F. Smeland, J. Lindgren, P. Sikora, Hmfr Stensland et al.
Cold Spring Harbor Molecular Case Studies, Journal article 2019
Journal article

Homozygous Null TBX4 Mutations Lead to Posterior Amelia with Pelvic and Pulmonary Hypoplasia
A. Kariminejad, E. Szenker-Ravi, C. Lekszas, H. Tajsharghi, Ali-Reza Moslemi et al.
American Journal of Human Genetics, Journal article 2019
Journal article

Showing 1 - 50 of 163

Name Title Organization
Abrahamsson, Jonas Professor, adjungerad Department of Pediatrics
Akyürek, Levent Professor/ specialized physician Department of Laboratory Medicine
Anckarsäter, Henrik Professor/ chief physician Department of Psychiatry and Neurochemistry
Andersen, Oluf Department of Clinical Neuroscience
Andersson Assarsson, Johanna Researcher Department of Molecular and Clinical Medicine
Appelqvist, Frida Doctoral student Department of Dermatology and Venereology
Arabanian, Laleh Researcher Department of Medical Biochemistry and Cell biology
Arvidsson, Yvonne Researcher Department of Laboratory Medicine
Bandaru, Sashidhar Researcher Department of Medical Biochemistry and Cell biology
Benrick, Anna Researcher Department of Physiology
Bergström, Göran Professor/ chief physician Department of Molecular and Clinical Medicine
Bhadury, Joydeep Postdoctoral research fellow Department of Laboratory Medicine
Blennow, Kaj Professor/ chief physician Department of Psychiatry and Neurochemistry
Blomstrand, Christian Professor emeritus Department of Clinical Neuroscience
Boren, Jan Professor Institute of Medicine
Carlsson, Peter Professor Department of Chemistry & Molecular Biology
Carlsson, Ylva Researcher Department of Obstetrics and Gynecology
Clausen, Anders Ranegaard Postdoctoral research fellow Department of Medical Biochemistry and Cell biology
Cutas, Daniela Researcher Philosophy and Philology unit
Darin, Niklas Professor/ chief physician Department of Pediatrics
Dickson, Suzanne Professor Department of Physiology
Djos, Anna Associate researcher Department of Laboratory Medicine
Einbeigi, Zakaria Physician Department of Oncology
Ekman, Agneta Senior lecturer Department of Pharmacolgy
Enerbäck, Sven Professor Institute of Biomedicine
Eriksson, Elias Professor Department of Pharmacolgy
Fagerberg, Björn Professor emeritus Department of Molecular and Clinical Medicine
Fagman, Henrik Senior lectuter/specialized physicia Department of Laboratory Medicine
Falkenberg, Maria Professor Department of Medical Biochemistry and Cell biology
Fardell Sandberg, Camilla Doctoral student Department of Pharmacolgy
Fernandez-Rodriguez, Julia Researcher Core facilities
Fogelstrand, Linda Physician Department of Laboratory Medicine
Fransson, Susanne Researcher Department of Laboratory Medicine
Gustavsson, Bengt Researcher Department of Surgery

Showing 1 - 50 of 163

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