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You searched for: Author/Creator Tifft, Cynthia J.

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1. A novel frameshift mutation in SOX10 causes Waardenburg syndrome with peripheral demyelinating neuropathy, visual impairment and the absence of Hirschsprung disease. Issue 5 (9th March 2020)

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

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

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

9. Early infantile‐onset epileptic encephalopathy 28 due to a homozygous microdeletion involving the WWOX gene in a region of uniparental disomy. Issue 1 (18th November 2018)

10. ERCC6 dysfunction presenting as progressive neurological decline with brain hypomyelination. Issue 11 (22nd September 2014)