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- 2023
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Mark
Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions
2023) In European Journal of Human Genetics(
- Contribution to journal › Article
- 2019
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Mark
Accuracy of determination of the glomerular filtration marker iohexol by European laboratories as monitored by external quality assessment
(
- Contribution to journal › Article
- 2014
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Mark
Novel Association of Neurofibromatosis Type 1-Causing Mutations in Families With Neurofibromatosis-Noonan Syndrome
(
- Contribution to journal › Article
- 2011
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Mark
Morphological and functional changes in multifocal vitelliform retinopathy and biallelic mutations in BEST1.
(
- Contribution to journal › Article