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2. An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences. (25th April 2015)

3. Analysis of copy number variants in 11 pairs of monozygotic twins with neurofibromatosis type 1. Issue 3 (14th November 2016)

4. Evaluation of racial disparities in pediatric optic pathway glioma incidence: Results from the Surveillance, Epidemiology, and End Results Program, 2000–2014. (June 2018)

5. Fractures in Children With Neurofibromatosis Type 1 From Two NF Clinics. Issue 5 (25th March 2013)

6. Recent developments in neurofibromatoses and RASopathies: Management, diagnosis and current and future therapeutic avenues. (12th November 2014)

7. The Occurrence of Occult Acetabular Dysplasia in Relatives of Individuals With Developmental Dysplasia of the Hip. Issue 1 (January 2016)

8. Three novel GJB2 (connexin 26) variants associated with autosomal dominant syndromic and nonsyndromic hearing loss. Issue 4 (25th March 2018)

9. Visual outcomes following everolimus targeted therapy for neurofibromatosis type 1‐associated optic pathway gliomas in children. Issue 4 (18th December 2020)