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Publications by Ana Berta Sousa
PSMB8 Encoding the Β5i Proteasome Subunit Is Mutated in Joint Contractures, Muscle Atrophy, Microcytic Anemia, and Panniculitis-Induced Lipodystrophy Syndrome
American Journal of Human Genetics
Genetics
Monozygotic Twins Concordant for Common Variable Immunodeficiency: Strikingly Similar Clinical and Immune Profile Associated With a Polygenic Burden
Frontiers in Immunology
Allergy
Immunology
Neonatal McCune–Albright Syndrome With Systemic Involvement: A Case Report
Journal of Medical Case Reports
Medicine
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
Mutagenesis
Epidemiology
Health
Medicine
Toxicology
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
Mutagenesis
Epidemiology
Health
Medicine
Toxicology
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