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Update on genetic predisposition to colorectal cancer and polyposis
L. Valle, R. M. de Voer, Y. Goldberg, W. Sjursen, A. Forsti et al.
Molecular Aspects of Medicine, Journal article 2019
Journal article

A SCA7 premutation may be a novel Mendelian modifier of MS course: A case report
Christina Sundal, Markus Axelsson, L. Wiklund, Christopher Lindberg, Oluf Andersen
Multiple Sclerosis and Related Disorders, Journal article 2019
Journal article

Biallelic germline nonsense variant of MLH3 underlies polyposis predisposition
A. Olkinuora, T. T. Nieminen, Emma Mårtensson, Anna Rohlin, A. Ristimaki et al.
Genetics in Medicine, Journal article 2019
Journal article

Prenatal onset of mitochondrial disease is associated with sideroflexin 4 deficiency
Kalliopi Sofou, Carola Oldfors Hedberg, Gittan Kollberg, Christer Thomsen, Åsa Wiksell et al.
Mitochondrion, Journal article 2019
Journal article

Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24
Carola Oldfors Hedberg, Alexandra Abramsson, D. P. S. Osborn, O. Danielsson, A. Fazlinezhad et al.
Hum Mol Genet, Journal article 2019
Journal article

Intra-Tumor DNA Methylation Heterogeneity in Glioblastoma; Implications for DNA Methylation-Based Classification.
Anna Wenger, Sandra Ferreyra Vega, Teresia Kling, Thomas Olsson, Asgeir Store Jakola et al.
Neuro-oncology, Journal article 2019
Journal article

Long-term follow-up and characteristic pathological findings in severe nemaline myopathy due to LMOD3 mutations
Eva Michael, Carola Oldfors Hedberg, Philip Wilmar, Kittichate Visuttijai, Anders Oldfors et al.
Neuromuscular Disorders, Journal article 2019
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Low Frequency ALK Hotspots Mutations In Neuroblastoma Tumours Detected By Ultra-deep Sequencing: Implications For ALK Inhibitor Treatment
Niloufar Javanmardi, Susanne Fransson, Anna Djos, Rose-Marie Sjöberg, Staffan Nilsson et al.
Scientific Reports, Journal article 2019
Journal article

Clinical response of the novel activating ALK-I1171T mutation in neuroblastoma to the ALK inhibitor ceritinib.
Jikui Guan, Susanne Fransson, Joachim T. Siaw, Diana Treis, Jimmy Van den Eynden et al.
Cold Spring Harbor molecular case studies, Journal article 2018
Journal article

Quality of life and visual perception in anophthalmic/microphthalmic children treated with ocular prosthesis
Beatrice Casslén, Ylva Jugård, R Taha Najim, Marie Odersjö, Alexandra Topa et al.
Svenska Ögonläkarföreningens (SÖF) årsmöte, Stockholm, Sverige, 8-10 okt, 2018, Poster 2018
Poster

Quality of life and visual perception in anophthalmic/microphthalmic children treated with ocular prosthesis
Beatrice Casslén, Ylva Jugård, R Taha Najim, Marie Odersjö, Alexandra Topa et al.
Svenska Ögonläkarföreningens (SÖF) årsmöte, Stockholm, Sverige, 8-10 okt, 2018, Poster 2018
Poster

BATLAS: Deconvoluting Brown Adipose Tissue
A. Perdikari, G. G. Leparc, M. Balaz, N. D. Pires, Martin Lidell et al.
Cell Reports, Journal article 2018
Journal article

STK25 regulates oxidative capacity and metabolic efficiency in adipose tissue
Silva Sütt, Emmelie Cansby, A. Paul, M. Amrutkar, Esther Nuñez Durán et al.
Journal of Endocrinology, Journal article 2018
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Patient-Derived Xenograft Models Reveal Intratumor Heterogeneity and Temporal Stability in Neuroblastoma
N. Braekeveldt, K. von Stedingk, Susanne Fransson, Angela Martinez-Monleon, D. Lindgren et al.
Cancer Research, Journal article 2018
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Molecular mechanisms and therapeutic targets in neuroblastoma
J. I. Johnsen, C. Dyberg, Susanne Fransson, M. Wickstrom, American Journal Of Pathology V. P. Stle Vp
Pharmacological Research, Journal article 2018
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Hypoxic cardiac fibroblasts from failing human hearts decrease cardiomyocyte beating frequency in an ALOX15 dependent manner
Mikael Sandstedt, Victoria Rotter Sopasakis, Annika Lundqvist, Kristina Vukusic, Anders Oldfors et al.
Plos One, Journal article 2018
Journal article

Altered levels of circulating insulin-like growth factor I (IGF-I) following ischemic stroke are associated with outcome - a prospective observational study
N David Åberg, Daniel Åberg, Katarina Jood, Michael Nilsson, Christian Blomstrand et al.
Bmc Neurology, Journal article 2018
Journal article

Quantification of torque teno virus and Epstein-Barr virus is of limited value for predicting the net state of immunosuppression after lung transplantation
Rickard Nordén, Jesper Magnusson, Anna Lundin, Ka-Wei Tang, Staffan Nilsson et al.
Open Forum Infectious Diseases, Journal article 2018
Journal article

Molecular Signatures of a TLR4 Agonist-Adjuvanted HIV-1 Vaccine Candidate in Humans
Jenna Anderson, Torunn Olafsdottir, S. Kratochvil, P. F. McKay, Malin Östensson et al.
Frontiers in Immunology, Journal article 2018
Journal article

Polyglucosan myopathy and functional characterization of a novel GYG1 mutation
Carola Oldfors Hedberg, A. Mensch, Kittichate Visuttijai, G. Stoltenburg, D. Stoevesandt et al.
Acta Neurologica Scandinavica, Journal article 2018
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