Works matching AU Porath, Binu
Results: 2
A novel, likely pathogenic variant in UBTF‐related neurodegeneration with brain atrophy is associated with a severe divergent neurodevelopmental phenotype.
- Published in:
- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 12, p. 1, doi. 10.1002/mgg3.2054
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- Article
Occurrence and characterization of medulloblastoma in a patient with Curry‐Jones syndrome.
- Published in:
- Clinical Genetics, 2020, v. 97, n. 4, p. 670, doi. 10.1111/cge.13681
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- Publication type:
- Article