Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Elisabetta Buscarini

Hereditary Hemorrhagic Telangiectasia: Breakpoint Characterization of a Novel Large Deletion inACVRL1Suggests the Causing Mechanism

Molecular Syndromology

English

Hereditary Haemorrhagic Telangiectasia in North African and Sub-Saharan Patients

South African Medical Journal

English

Hereditary Hemorrhagic Telangiectasia: Evidence for Regional Founder Effects of ACVRL1 Mutations in French and Italian Patients

European Journal of Human Genetics

English

Analysis of ENG and ACVRL1 Genes in 137 HHT Italian Families Identifies 76 Different Mutations (24 Novel). Comparison With Other European Studies

Journal of Human Genetics

English

Related publications

Use of Anthrax Vaccine in the United States: Recommendations of the Advisory Committee on Immunization Practices, 2019

MMWR. Recommendations and reports : Morbidity and mortality weekly report. Recommendations and reports / Centers for Disease Control

Health Information Management

English

Preexposure Prophylaxis for Prevention of HIV Acquisition Among Adolescents: Clinical Considerations, 2020

MMWR. Recommendations and reports : Morbidity and mortality weekly report. Recommendations and reports / Centers for Disease Control

Health Information Management

English

Sequencing Studies in Human Genetics: Design and Interpretation

Nature Reviews Genetics

Molecular Biology

English

Evolution of Genetic and Genomic Features Unique to the Human Lineage

Nature Reviews Genetics

Molecular Biology

English

Recent Human Adaptation: Genomic Approaches, Interpretation and Insights

Nature Reviews Genetics

Molecular Biology

English

ChIP–seq and Beyond: New and Improved Methodologies to Detect and Characterize Protein–DNA Interactions

Nature Reviews Genetics

Molecular Biology

English

Sex and the Singular DM Domain: Insights Into Sexual Regulation, Evolution and Plasticity

Nature Reviews Genetics

Molecular Biology

English

Putting Gene Essentiality Into Context

Nature Reviews Genetics

Molecular Biology

English

Promoter-Proximal Pausing of RNA Polymerase II: Emerging Roles in Metazoans

Nature Reviews Genetics

Molecular Biology

English

Stress and the Epigenetic Landscape: A Link to the Pathobiology of Human Diseases?

Nature Reviews Genetics

Molecular Biology

English