Found: 3
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Discordant cfDNA‐NIPT result unraveling a trisomy 12 chronic lymphocytic leukemia in a 37 years old pregnant woman.
- Published in:
- Prenatal Diagnosis, 2022, v. 42, n. 8, p. 1000, doi. 10.1002/pd.6158
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- Publication type:
- Article
Congenital Defects in a Patient Carrying a Novel Homozygous AEBP1 Variant: Further Expansion of the Phenotypic Spectrum of Ehlers–Danlos Syndrome Classical-like Type 2?
- Published in:
- 2022
- By:
- Publication type:
- Case Study
A pathogenic variant in the FLCN gene presenting with pure dementia: is autophagy at the intersection between neurodegeneration and cancer?
- Published in:
- Frontiers in Neuroscience, 2024, p. 1, doi. 10.3389/fnins.2023.1304080
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- Publication type:
- Article