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- 2023
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Mark
A Swedish SCA34 family with late onset ataxia, cerebellar atrophy and ocular movement abnormalities with a novel mutation in ELOVL4
- Contribution to journal › Published meeting abstract
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Mark
Extended genetic analysis and tumor characteristics in over 4600 women with suspected hereditary breast and ovarian cancer
- Contribution to journal › Article
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Mark
Molecular characteristics of breast tumors in patients screened for germline predisposition from a population-based observational study
- Contribution to journal › Article
-
Mark
Building a precision medicine infrastructure at a national level: The Swedish experience
- Contribution to journal › Scientific review
- 2022
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Mark
Implementing precision medicine in a regionally organized healthcare system in Sweden
- Contribution to journal › Letter
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Mark
Extended genetic diagnostics for children with profound sensorineural hearing loss by implementing massive parallel sequencing. Diagnostic outcome, family experience and clinical implementation
- Contribution to journal › Article
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Mark
Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers
- Contribution to journal › Article
- 2021
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Mark
A search for modifying genetic factors in CHEK2:c.1100delC breast cancer patients
- Contribution to journal › Article
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Mark
Helgenomanalys vid sällsynta diagnoser ger stor patientnytta
- Contribution to specialist publication or newspaper › Specialist publication article
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Mark
Genetic testing in women with early-onset breast cancer : a Traceback pilot study
- Contribution to journal › Article
