27 results on '"Silbermann, Flora"'
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2. Mouse genetics reveals Barttin as a genetic modifier of Joubert syndrome
3. Agonists of prostaglandin E 2 receptors as potential first in class treatment for nephronophthisis and related ciliopathies
4. Prostaglandin E1 as therapeutic molecule for Nephronophthisis and related ciliopathies
5. The renal inflammatory network of nephronophthisis
6. renal inflammatory network of nephronophthisis.
7. Agonists of prostaglandin E2 receptors as potential first in class treatment for nephronophthisis and related ciliopathies.
8. The renal inflammatory network of nephronophthisis
9. Control of the Wnt pathways by nephrocystin-4 is required for morphogenesis of the zebrafish pronephros
10. Nephrocystin-1 and nephrocystin-4 are required for epithelial morphogenesis and associate with PALS1/PATJ and Par6
11. Characterization of the nephrocystin/nephrocystin-4 complex and subcellular localization of nephrocystin-4 to primary cilia and centrosomes
12. Mouse genetics reveals Barttin as a genetic modifier of Joubert syndrome
13. Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice
14. Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis
15. Characterization of the NPHP1 Locus: Mutational Mechanism Involved in Deletions in Familial Juvenile Nephronophthisis
16. Integrin Alpha 8 Recessive Mutations Are Responsible for Bilateral Renal Agenesis in Humans
17. Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation
18. A Homozygous Missense Mutation in the Ciliary Gene TTC21B Causes Familial FSGS
19. Dishevelled stabilization by the ciliopathy protein Rpgrip1l is essential for planar cell polarity
20. The ciliary pocket: an endocytic membrane domain at the base of primary and motile cilia
21. The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome
22. The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin
23. A 11 Mb YAC-Based Contig Spanning the Familial Juvenile Nephronophthisis Region (NPH1) Located on Chromosome 2q
24. Post-transcriptional regulation of transferrin receptor mRNA by IFNγ
25. A Novel Gene that Encodes a Protein with a Putative src Homology 3 Domain is a Candidate Gene for Familial Juvenile Nephronophthisis.
26. Large Homozygous Deletions of the 2q13 Region Are a Major Cause of Juvenile Nephronophthisis.
27. A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS.
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