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- 2024
-
Mark
Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions
Johansson, Josefin ; Lidéus, Sarah ; Frykholm, Carina ; Gunnarsson, Cecilia ; Mihalic, Filip ; Gudmundsson, Sanna ; Ekvall, Sara ; Molin, Anna Maja ; Pham, Mai and Vihinen, Mauno LU
, et al.
(2024)
In European Journal of Human Genetics
32(3).
p.333-341
- Contribution to journal › Article
- 2019
-
Mark
Accuracy of determination of the glomerular filtration marker iohexol by European laboratories as monitored by external quality assessment
- Contribution to journal › Article
- 2014
-
Mark
Novel Association of Neurofibromatosis Type 1-Causing Mutations in Families With Neurofibromatosis-Noonan Syndrome
Ekvall, Sara ; Sjors, Kerstin ; Jonzon, Anders ; Vihinen, Mauno LU
; Anneren, Goran
and Bondeson, Marie-Louise
(2014)
In American Journal of Medical Genetics. Part A
164(3).
p.579-587
- Contribution to journal › Article
- 2011
-
Mark
Morphological and functional changes in multifocal vitelliform retinopathy and biallelic mutations in BEST1.
Wittström, Elisabeth ; Ekvall, Sara ; Schatz, Patrik LU
; Bondeson, Marie-Louise
; Ponjavic, Vesna
LU
and Andréasson, Sten
LU
(2011)
In Ophthalmic Genetics
32.
p.83-96
- Contribution to journal › Article