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- 2017
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Mark
Respiratory chain complex III deficiency due to mutated BCS1L : A novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model
(
- Contribution to journal › Article
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Mark
Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU
(
- Contribution to journal › Article
- 2016
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Mark
Familial aggregation of stroke amongst young patients in Lund Stroke Register.
(
- Contribution to journal › Article
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Mark
The fetal thymus has a unique genomic copy number profile resulting from physiological T cell receptor gene rearrangement
(
- Contribution to journal › Article
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Mark
No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer
(
- Contribution to journal › Article
- 2015
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Mark
No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome.
(
- Contribution to journal › Article
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Mark
Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening.
(
- Contribution to journal › Article
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Mark
Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. Summary and recommendations.
2015) In European Journal of Human Genetics(
- Contribution to journal › Article
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Mark
Identification of six new susceptibility loci for invasive epithelial ovarian cancer
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- Contribution to journal › Article
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Mark
The gynecological surveillance of women with Lynch syndrome in Sweden.
(
- Contribution to journal › Article