19 results on '"Mine, Manuele"'
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2. COL4A2 mutation causing adult onset recurrent intracerebral hemorrhage and leukoencephalopathy
3. COL4A1 Mutation Revealed by an Isolated Brain Hemorrhage
4. Ophthalmological Features Associated With COL4A1 Mutations
5. Mutation Ala171Thr Stabilizes the Gonadotropin-Releasing Hormone Receptor in Its Inactive Conformation, Causing Familial Hypogonadotropic Hypogonadism
6. Optical Coherence Tomography Angiography of Familial Retinal Arteriolar Tortuosity
7. Late Diagnosis of COL4A1 Mutation and Problematic Vascular Risk Factor Management
8. COL4A1-Related Disease: Raised Creatine Kinase and Cerebral Calcification as Useful Pointers
9. Intracerebral hemorrhage and COL4A1 mutations, from preterm infants to adult patients
10. First characterization of a large deletion of the PDHA1 gene
11. Proteomic Consequences of a Human Mitochondrial tRNA Mutation beyond the Frame of Mitochondrial Translation
12. A new case of pyruvate dehydrogenase deficiency due to a novel mutation in thepdx1 gene
13. A novel hereditary extensive vascular leukoencephalopathy mapping to chromosome 20q13.
14. Mutation Ala171Thr Stabilizes the GonadotropinReleasing Hormone Receptor in Its Inactive Conformation, Causing Familial Hypogonadotropic Hypogonadism.
15. Clinical/Scientific Notes.
16. A new case of pyruvate dehydrogenase deficiency due to a novel mutation in the <TOGGLE>pdx1</TOGGLE> gene
17. A new case of pyruvate dehydrogenase deficiency due to a novel mutation in the pdx1gene
18. COL4A1-related disease: raised creatine kinase and cerebral calcification as useful pointers.
19. First characterization of a large deletion of the PDHA 1 gene.
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