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Your search keyword '"Bergametti, Françoise"' showing total 19 results

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19 results on '"Bergametti, Françoise"'

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1. An AluYa5 Insertion in the 3′UTR of COL4A1 and Cerebral Small Vessel Disease

2. Biallelic variants in NOS3 and GUCY1A3, the two major genes of the nitric oxide pathway, cause moyamoya cerebral angiopathy

3. Heterozygous HTRA1 nonsense or frameshift mutations are pathogenic

4. The pleiotropy associated with de novo variants in CHD4, CNOT3, and SETD5 extends to moyamoya angiopathy

5. Novel CCM2 missense variants abrogating the CCM1–CCM2 interaction cause cerebral cavernous malformations

6. Clinical and Molecular Features of 5 European Multigenerational Families With Moyamoya Angiopathy

7. De novo mutations in CBL causing early-onset paediatric moyamoya angiopathy

8. Disruption of a miR‐29 binding site leading to COL4A1 upregulation causes pontine autosomal dominant microangiopathy with leukoencephalopathy

10. HeterozygousHTRA1mutations are associated with autosomal dominant cerebral small vessel disease

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