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2024
Mark A Novel Type of Autosomal Dominant Episodic Nystagmus Segregating with a Variant in the FRMD5 Gene
Hammar, Björn ^LU ; Paulsson, Sofia ^LU ; Helgadottir, Hafdis T. ; Albinsson, John ^LU ; Naumovska, Magdalena ^LU ; Sheikh, Rafi ^LU and Kvarnung, Malin (2024) In Neuro-Ophthalmology 48(6). p.407-416
- Contribution to journal › Article
2022
Mark Multi-Omic Investigations of a 17-19 Translocation Links MINK1 Disruption to Autism, Epilepsy and Osteoporosis
Eisfeldt, Jesper ; Schuy, Jakob ; Stattin, Eva-Lena ; Kvarnung, Malin ; Falk, Anna ^LU ; Feuk, Lars and Lindstrand, Anna (2022) In International Journal of Molecular Sciences 23(16).
- Contribution to journal › Article
2019
Mark Ataxia in Patients With Bi-Allelic NFASC Mutations and Absence of Full-Length NF186
Kvarnung, Malin ; Shahsavani, Mansoureh ; Taylan, Fulya ; Moslem, Mohsen ; Breeuwsma, Nicole ; Laan, Loora ; Schuster, Jens ; Jin, Zhe ^LU ; Nilsson, Daniel ^LU and Lieden, Agne , et al. (2019) In Frontiers in Genetics 10.
- Contribution to journal › Article

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