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You searched for: Author/Creator Ji, Weizhen

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1. A novel SAMD9 mutation causing MIRAGE syndrome: An expansion and review of phenotype, dysmorphology, and natural history. Issue 2 (21st December 2017)

2. A retrospective cohort analysis of the Yale pediatric genomics discovery program. Issue 10 (28th July 2022)

3. De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathy. Issue 2 (15th October 2018)

4. DLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypes. Issue 7 (6th July 2020)

5. DYNC1H1‐related disorders: A description of four new unrelated patients and a comprehensive review of previously reported variants. Issue 9 (13th July 2020)

6. D‐bifunctional protein deficiency caused by splicing variants in a neonate with severe peroxisomal dysfunction and persistent hypoglycemia. Issue 1 (8th October 2021)

7. Expansion of NEUROD2 phenotypes to include developmental delay without seizures. Issue 4 (13th January 2021)

8. Fetal akinesia deformation sequence syndrome associated with recessive TTN variants. Issue 3 (10th December 2022)

9. Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome. (20th March 2020)

10. Ring chromosome formation by intra‐strand repairing of subtelomeric double stand breaks and clinico‐cytogenomic correlations for ring chromosome 9. Issue 12 (26th September 2020)