Research output per year
Research output per year
Personal profile
UKÄ subject classification
- Genetics
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Dive into the research topics where Sofie Samuelsson is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Collaborations and top research areas from the last five years
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Research output
- 6 Article
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Extended genetic diagnostics for children with profound sensorineural hearing loss by implementing massive parallel sequencing. Diagnostic outcome, family experience and clinical implementation
Elander, J., Ullmark, T., Ehrencrona, H., Jonson, T., Piccinelli, P., Samuelsson, S., Löwgren, K., Falkenius-Schmidt, K., Ehinger, J., Stenfeldt, K. & Värendh, M., 2022 Aug, In: International Journal of Pediatric Otorhinolaryngology. 159, 111218.Research output: Contribution to journal › Article › peer-review
Open Access -
MAP3K6 Mutations in a Neurovascular Disease Causing Stroke, Cognitive Impairment, and Tremor
Ilinca, A., Englund, E., Samuelsson, S., Truvé, K., Kafantari, E., Martinez-Majander, N., Putaala, J., Håkansson, C., Lindgren, A. G. & Puschmann, A., 2021 Feb, In: Neurology: Genetics. 7, 1, e548.Research output: Contribution to journal › Article › peer-review
Open Access -
ZMIZ1-associated neurodevelopmental disorder and Hirschsprung disease
Valind, A., Stenström, P., Samuelsson, S., Jonson, T. & Eklund, E. A., 2021 Aug, In: Journal of Pediatric Surgery Case Reports. 71, 101889.Research output: Contribution to journal › Article › peer-review
Open Access -
Tissue variations of mosaic genome-wide paternal uniparental disomy and phenotype of multi-syndromal congenital hyperinsulinism
Christesen, H. T., Christensen, L. G., Löfgren, Å. M., Brøndum-Nielsen, K., Svensson, J., Brusgaard, K., Samuelsson, S., Elfving, M., Jonson, T., Grønskov, K., Rasmussen, L., Backman, T., Hansen, L. K., Larsen, A. R., Petersen, H. & Detlefsen, S., 2020 Jan, In: European Journal of Medical Genetics. 63, 1, 103632.Research output: Contribution to journal › Article › peer-review
Open Access -
Whole-Exome Sequencing in 22 Young Ischemic Stroke Patients With Familial Clustering of Stroke
Ilinca, A., Martinez-Majander, N., Samuelsson, S., Piccinelli, P., Truvé, K., Cole, J., Kittner, S., Soller, M., Kristoffersson, U., Tatlisumak, T., Puschmann, A., Putaala, J. & Lindgren, A., 2020, In: Stroke. 51, 4, p. 1056-1063 8 p.Research output: Contribution to journal › Article › peer-review
Projects
- 1 Active
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Klinisk genomik vid sällsynta diagnoser
Ehrencrona, H., Samuelsson, S., Jonson, T., Eklund, E. & Gisselsson Nord, D.
2019/08/01 → …
Project: Dissertation