Found: 10
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New observation of severe tooth malformation in a female patient with ectodermal dysplasia due to the EDA splice acceptor variant c.742‐2A>G.
- Published in:
- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 12, p. 1, doi. 10.1002/mgg3.2275
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- Publication type:
- Article
Rare Germline Variants in DNA Repair Genes Detected in BRCA -Negative Finnish Patients with Early-Onset Breast Cancer.
- Published in:
- Cancers, 2024, v. 16, n. 17, p. 2955, doi. 10.3390/cancers16172955
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- Publication type:
- Article
Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland.
- Published in:
- Human Genetics, 2021, v. 140, n. 7, p. 1011, doi. 10.1007/s00439-021-02268-1
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- Publication type:
- Article
Brooke-Spiegler Syndrome Associated with Ulcerative Rectosigmoiditis.
- Published in:
- 2013
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- Publication type:
- Letter
Germline EMSY sequence alterations in hereditary breast cancer and ovarian cancer families.
- Published in:
- 2017
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- Publication type:
- journal article
Neurocognitive follow‐up in adult siblings with Phelan–McDermid syndrome due to a novel SHANK3 splicing site mutation.
- Published in:
- 2021
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- Publication type:
- Case Study
Severe Untreated Scoliosis and Early Onset Breast Cancer in a Patient with Neurofibromatosis Associated with a Nonsense Variant of NF1 Gene.
- Published in:
- 2023
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- Publication type:
- Case Study
Copy Number Variation Analysis in Familial <i>BRCA1/2</i>-Negative Finnish Breast and Ovarian Cancer.
- Published in:
- PLoS ONE, 2013, v. 8, n. 8, p. 1, doi. 10.1371/journal.pone.0071802
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- Publication type:
- Article
Genetic, clinic and histopathologic characterization of BRCA-associated hereditary breast and ovarian cancer in southwestern Finland.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-10519-y
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- Publication type:
- Article
ATM c.7570G>C is a high‐risk allele for breast cancer.
- Published in:
- International Journal of Cancer, 2023, v. 152, n. 3, p. 429, doi. 10.1002/ijc.34305
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- Publication type:
- Article