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- 2019
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Mark
Functional characterization of novel germline TP53 variants in Swedish families
(
- Contribution to journal › Article
- 2018
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Mark
Gene-panel testing of breast and ovarian cancer patients identifies a recurrent RAD51C duplication
(
- Contribution to journal › Article
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Mark
Enrichment of rare copy number variation in children with developmental language disorder
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- Contribution to journal › Article
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Mark
How do consent forms for diagnostic high-throughput sequencing address unsolicited and secondary findings? A content analysis
(
- Contribution to journal › Article
- 2017
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Mark
Haplotype analysis reveals that the recurrent BRCA1 deletion of exons 23 and 24 is a Greek founder mutation
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- Contribution to journal › Article
- 2016
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Mark
Origin of mutation in sporadic cases of severe haemophilia A in Sweden.
(
- Contribution to journal › Article
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Mark
L1 syndrome diagnosis complemented with functional analysis of L1CAM variants located to the two N-terminal Ig-like domains.
2016) In Clinical Genetics(
- Contribution to journal › Article
- 2015
-
Mark
Next generation DNA sequencing of a Swedish Malignant Hyperthermia cohort.
(
- Contribution to journal › Article
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Mark
A recurrent germline BAP1 mutation and extension of the BAP1 tumor predisposition spectrum to include basal cell carcinoma
(
- Contribution to journal › Article
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Mark
The risk of contralateral breast cancer in daughters of women with and without breast cancer.
2015) In Clinical Genetics(
- Contribution to journal › Article