Works by Solem, Emily
Results: 3
Clinical diagnosis of neurofibromatosis type I in multiple family members due to cosegregation of a unique balanced translocation with disruption of the NF1 locus: Testing considerations for accurate diagnosis.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1222, doi. 10.1002/ajmg.a.62071
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- Article
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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- Publication type:
- Article
Factors associated with parental knowledge of neurofibromatosis type 1 (NF1): Parental affected status and genetic counseling.
- Published in:
- Journal of Genetic Counseling, 2020, v. 29, n. 6, p. 1151, doi. 10.1002/jgc4.1275
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- Article