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2. Acroscyphodysplasia as a phenotypic variation of pseudohypoparathyroidism and acrodysostosis type 2. Issue 10 (10th July 2014)

3. Acroscyphodysplasia as a phenotypic variation of pseudohypoparathyroidism and acrodysostosis type 2. Issue 10 (10th July 2014)

5. Arterial complications in classical Ehlers-Danlos syndrome: a case series. Issue 11 (28th May 2020)

7. Delineating the Smith‐Kingsmore syndrome phenotype: Investigation of 16 patients with the MTOR c.5395G > A p.(Glu1799Lys) missense variant. Issue 8 (25th May 2021)

8. Diagnosis, natural history, and management in vascular Ehlers–Danlos syndrome. Issue 1 (March 2017)

9. Dissection of contiguous gene effects for deletions around ERF on chromosome 19. Issue 7 (16th May 2021)

10. Enrichment of Rare Variants in Loeys–Dietz Syndrome Genes in Spontaneous Coronary Artery Dissection but Not in Severe Fibromuscular Dysplasia. Issue 10 (8th September 2020)