20032019

Research output per year

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Personal profile

Fields of Science

  • 3123 Gynaecology and paediatrics

International and National Collaboration Publications and projects within past five years.

Publications

Adult outcomes of being born late preterm or early term - What do we know?

Kajantie, E., Strang-Karlsson, S., Indredavik Evensen, K. A. & Haaramo, P., Feb 2019, In : Seminars in Fetal & Neonatal Medicine. 24, 1, p. 66-83 18 p.

Research output: Contribution to journalArticleScientificpeer-review

A novel compound heterozygous mutation in the POMK gene causing limb-girdle muscular dystrophy-dystroglycanopathy in a sib pair

Strang-Karlsson, S., Johnson, K., Töpf, A., Xu, L., Lek, M., MacArthur, D. G., Casar-Borota, O., Williams, M., Straub, V. & Wallgren-Pettersson, C., Jul 2018, In : Neuromuscular Disorders. 28, 7, p. 614-618 5 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File

Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness

Johnson, K., Bertoli, M., Phillips, L., Topf, A., Van den Bergh, P., Vissing, J., Witting, N., Nafissi, S., Jamal-Omidi, S., Lusakowska, A., Kostera-Pruszczyk, A., Potulska-Chromik, A., Deconinck, N., Wallgren-Pettersson, C., Strang-Karlsson, S., Colomer, J., Claeys, K. G., De Ridder, W., Baets, J., von der Hagen, M. & 12 others, Fernandez-Torron, R., Zulaica Ijurco, M., Espinal Valencia, J. B., Hahn, A., Durmus, H., Willis, T., Xu, L., Valkanas, E., Mullen, T. E., Lek, M., MacArthur, D. G. & Straub, V., 30 Jul 2018, In : Skeletal Muscle. 8, 12 p., 23.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File

Severe intellectual disability in a patient with Burn-McKeown syndrome

Strang-Karlsson, S., Urquhart, J., Newman, W. G. & Douzgou, S., Jul 2017, In : Clinical Dysmorphology. 26, 3, p. 193-194 2 p.

Research output: Contribution to journalArticleScientific

Projects