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You searched for: Author/Creator Jamuar, Saumya S.

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2. Cover Image, Volume 176A, Number 5, May 2018. Issue 5 (21st April 2018)

3. Cover Image, Volume 39, Issue 1. Issue 1 (7th December 2017)

4. DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome. Issue 1 (11th November 2017)

5. Deep clinical phenotyping and gene expression analysis in a patient with RCBTB1-associated retinopathy. (4th May 2021)

6. Deletion of chromosome 8q22.1, a critical region for Nablus mask‐like facial syndrome: Four additional cases support a role of genetic modifiers in the manifestation of the phenotype. (2nd April 2015)

8. Down syndrome in diverse populations. Issue 1 (January 2017)

9. UGDH germline loss-of-function mutations cause epilepsy and global developmental delay. (July 2017)

10. Williams–Beuren syndrome in diverse populations. Issue 5 (21st April 2018)