Search

Your search keyword '"Pavel N"' showing total 129 results

Search Constraints

Start Over You searched for: Author "Pavel N" Remove constraint Author: "Pavel N" Database Springer Nature Journals Remove constraint Database: Springer Nature Journals
129 results on '"Pavel N"'

Search Results

1. Semiautomated approach focused on new genomic information results in time and effort-efficient reannotation of negative exome data

6. Gain-of-function mutations in KCNK3 cause a developmental disorder with sleep apnea

13. UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactyly

14. Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

15. Impact of integrated translational research on clinical exome sequencing

20. A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome

26. Cationic penetrating antioxidants switch off Mn cluster of photosystem II in situ

Catalog

Books, media, physical & digital resources