Search

Your search keyword '"Brancati, A"' showing total 97 results

Search Constraints

Start Over You searched for: Author "Brancati, A" Remove constraint Author: "Brancati, A" Database Springer Nature Journals Remove constraint Database: Springer Nature Journals
97 results on '"Brancati, A"'

Search Results

3. Chromatin conformation capture in the clinic: 4C-seq/HiC distinguishes pathogenic from neutral duplications at the GPR101 locus

5. Multimodal spatiotemporal phenotyping of human retinal organoid development

7. Truncating variants in the penultimate exon of TGFBR1 escaping nonsense-mediated mRNA decay cause Loeys-Dietz syndrome

16. Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome

19. Author Correction: Mutations in PYCR1 cause cutis laxa with progeroid features

22. Improving diagnosis for rare diseases: the experience of the Italian undiagnosed Rare diseases network

26. Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

27. A signalling cascade involving receptor-activated phospholipase A2, glycerophosphoinositol 4-phosphate, Shp1 and Src in the activation of cell motility

43. Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine

Catalog

Books, media, physical & digital resources