Search

Search Constraints

You searched for: Author/Creator Kohler, Jennefer N.

Search Results

1. A toolkit for genetics providers in follow‐up of patients with non‐diagnostic exome sequencing. Issue 2 (9th April 2019)

2. Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytoma. (August 2018)

3. Developing a genomics rotation: Practical training around variant interpretation for genetic counseling students. Issue 2 (1st February 2019)

4. Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review. Issue 6 (28th March 2019)

5. Genetic counselor roles in the undiagnosed diseases network research study: Clinical care, collaboration, and curation. Issue 2 (10th August 2021)

6. Genotype–phenotype correlations in individuals with pathogenic RERE variants. Issue 5 (25th January 2018)

7. Perceived utility and disutility of genomic sequencing for pediatric patients: Perspectives from parents with diverse sociodemographic characteristics. Issue 4 (3rd January 2022)

8. Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions. Issue 6 (5th August 2020)

9. The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME. (15th December 2020)

10. Yield of whole exome sequencing in undiagnosed patients facing insurance coverage barriers to genetic testing. Issue 6 (3rd September 2019)