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You searched for: Author/Creator Li, Jun Z.

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1. A Novel Recurrent COL5A1 Genetic Variant Is Associated With a Dysplasia-Associated Arterial Disease Exhibiting Dissections and Fibromuscular Dysplasia. Issue 11 (November 2020)

4. Fibromuscular Dysplasia and Abdominal Aortic Aneurysms Are Dimorphic Sex-Specific Diseases With Shared Complex Genetic Architecture. (14th November 2022)

5. Genome-Wide Association Transethnic Meta-Analyses Identifies Novel Associations Regulating Coagulation Factor VIII and von Willebrand Factor Plasma Levels. Issue 5 (29th January 2019)

6. Genome‐wide linkage analysis and whole‐exome sequencing identifies an ITGA2B mutation in a family with thrombocytopenia. (23rd May 2019)

7. HESX1 mutations in patients with congenital hypopituitarism: variable phenotypes with the same genotype. (28th April 2016)

8. Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects. Issue 6 (30th June 2018)