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14 results on '"Robusto M"'

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1. Novel selective inhibitors of macropinocytosis-dependent growth in pancreatic ductal carcinoma.

2. A high-throughput screening identifies MCM chromatin loading inhibitors targeting cells with increased replication origins.

3. In-depth genetic and molecular characterization of diaphanous related formin 2 (DIAPH2) and its role in the inner ear.

4. Role of Cytoskeletal Diaphanous-Related Formins in Hearing Loss.

5. DNA Methylation Signature in Monozygotic Twins Discordant for Psoriatic Disease.

6. SLC22A4 Gene in Hereditary Non-syndromic Hearing Loss: Recurrence and Incomplete Penetrance of the p.C113Y Mutation in Northwest Africa.

7. X-Linked Alport Syndrome in Women: Genotype and Clinical Course in 24 Cases.

8. Alport syndrome cold cases: Missing mutations identified by exome sequencing and functional analysis.

9. First independent replication of the involvement of LARS2 in Perrault syndrome by whole-exome sequencing of an Italian family.

10. Hepatic fibrinogen storage disease: identification of two novel mutations (p.Asp316Asn, fibrinogen Pisa and p.Gly366Ser, fibrinogen Beograd) impacting on the fibrinogen γ-module.

11. Molecular characterization of 7 patients affected by dys- or hypo-dysfibrinogenemia: Identification of a novel mutation in the fibrinogen Bbeta chain causing a gain of glycosylation.

12. The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy.

13. Clinical and molecular characterisation of 21 patients affected by quantitative fibrinogen deficiency.

14. A novel mutation within the MIR96 gene causes non-syndromic inherited hearing loss in an Italian family by altering pre-miRNA processing.

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