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You searched for: Author/Creator Adams, David R.

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1. A custom capture sequence approach for oculocutaneous albinism identifies structural variant alleles at the OCA2 locus. Issue 10 (1st August 2021)

2. A novel iris transillumination grading scale allowing flexible assessment with quantitative image analysis and visual matching. (2nd January 2018)

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

5. Compound heterozygosity for loss‐of‐function GARS variants results in a multisystem developmental syndrome that includes severe growth retardation. Issue 10 (14th July 2017)

6. Cover Image, Volume 38, Issue 10. Issue 10 (14th September 2017)

7. Design and synthesis of a potent, highly selective, orally bioavailable, retinoic acid receptor alpha agonist. Issue 4 (15th February 2018)

8. Diagnosis and discovery: Insights from the NIH Undiagnosed Diseases Program. Issue 5 (16th May 2022)

9. DNA Variations in Oculocutaneous Albinism: An Updated Mutation List and Current Outstanding Issues in Molecular Diagnostics. Issue 6 (30th April 2013)

10. DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature. Issue 12 (7th November 2020)