Amanote Research
Register
Sign In
Discover open access scientific publications
Search, annotate, share and cite publications
Publications by Elisabeth Flori
Exome Sequencing of Bardet–Biedl Syndrome Patient Identifies a Null Mutation in the BBSome subunitBBIP1(BBS18)
Journal of Medical Genetics
Genetics
Transient Ciliogenesis Involving Bardet-Biedl Syndrome Proteins Is a Fundamental Characteristic of Adipogenic Differentiation
Proceedings of the National Academy of Sciences of the United States of America
Multidisciplinary
Trisomy 7 Mosaicism, Maternal Uniparental Heterodisomy 7 and Hirschsprung's Disease in a Child With Silver–Russell Syndrome
European Journal of Human Genetics
Genetics
Related publications
Sequencing Studies in Human Genetics: Design and Interpretation
Nature Reviews Genetics
Genetics
Molecular Biology
Evolution of Genetic and Genomic Features Unique to the Human Lineage
Nature Reviews Genetics
Genetics
Molecular Biology
Recent Human Adaptation: Genomic Approaches, Interpretation and Insights
Nature Reviews Genetics
Genetics
Molecular Biology
ChIP–seq and Beyond: New and Improved Methodologies to Detect and Characterize Protein–DNA Interactions
Nature Reviews Genetics
Genetics
Molecular Biology
Sex and the Singular DM Domain: Insights Into Sexual Regulation, Evolution and Plasticity
Nature Reviews Genetics
Genetics
Molecular Biology
Putting Gene Essentiality Into Context
Nature Reviews Genetics
Genetics
Molecular Biology
Promoter-Proximal Pausing of RNA Polymerase II: Emerging Roles in Metazoans
Nature Reviews Genetics
Genetics
Molecular Biology
Stress and the Epigenetic Landscape: A Link to the Pathobiology of Human Diseases?
Nature Reviews Genetics
Genetics
Molecular Biology
Autoimmune Diseases — Connecting Risk Alleles With Molecular Traits of the Immune System
Nature Reviews Genetics
Genetics
Molecular Biology
Bayesian Molecular Clock Dating of Species Divergences in the Genomics Era
Nature Reviews Genetics
Genetics
Molecular Biology