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- 2018
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Mark
Germline mutations in BRCA1 and BRCA2 incidentally revealed in a biobank research study : experiences from re-contacting mutation carriers and relatives
(
- Contribution to journal › Article
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Mark
Generation of an induced pluripotent stem cell line (CSC-41) from a Parkinson's disease patient carrying a p.G2019S mutation in the LRRK2 gene
(
- Contribution to journal › Article
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Mark
Generation of an induced pluripotent stem cell line (CSC-44) from a Parkinson's disease patient carrying a compound heterozygous mutation (c.823C > T and EX6 del) in the PARK2 gene
(
- Contribution to journal › Article
-
Mark
PREPL deficiency : Delineation of the phenotype and development of a functional blood assay
(
- Contribution to journal › Article
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Mark
Generation of a human induced pluripotent stem cell line (CSC-40) from a Parkinson's disease patient with a PINK1 p.Q456X mutation
(
- Contribution to journal › Article
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Mark
Generation of an integration-free induced pluripotent stem cell line (CSC-43J) from a patient with sporadic Parkinson's disease
(
- Contribution to journal › Article
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Mark
Generation of a human induced pluripotent stem cell line (CSC-42) from a patient with sporadic form of Parkinson's disease
(
- Contribution to journal › Article
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Mark
Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility
(
- Contribution to journal › Article
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Mark
A field guide for cancer diagnostics using cell-free DNA : From principles to practice and clinical applications
(
- Contribution to journal › Scientific review
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Mark
Identification and characterization of candidate therapeutic targets in acute myeloid leukemia
2018)(
- Thesis › Doctoral thesis (compilation)