Connecting you to content on EBSCOhost

Works by Solem, Emily

Results: 3

1

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

By:

Smith, Rebecca B.;
Solem, Emily P.;
Metz, Emma C.;
Wheeler, Ferrin C.;
Phillips III, John A.;
Yenamandra, Ashwini

Publication type:

Article

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

By:

Tinker, Rory J.;
Guess, Tiffany;
Rinker, David C.;
Sheehan, Jonathan H.;
Lubarsky, Daniel;
Porath, Binu;
Mosera, Mackenzie;
Mayo, Ping;
Solem, Emily;
Lee, Laura A.;
Sharam, Asha;
Brault, Jennifer

Publication type:

Article

3

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

By:

Solem, Emily P.;
Primiano, Michelle;
McQuillen, Marshall P.;
Zak Goelz, Monika

Publication type:

Article