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Publications by Sofie Symoens
Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa
American Journal of Human Genetics
Genetics
Expanding the Clinical and Mutational Spectrum of the Ehlers–Danlos Syndrome, Dermatosparaxis Type
Genetics in Medicine
Medicine
Genetics
Musculocontractural Ehlers-Danlos Syndrome (Former EDS Type VIB) and Adducted Thumb Clubfoot Syndrome (ATCS) Represent a Single Clinical Entity Caused by Mutations in the Dermatan-4-Sulfotransferase 1 Encoding CHST14 Gene
Human Mutation
Genetics
Absence of Collagen Flowers on Electron Microscopy and Identification of (Likely) Pathogenic COL5A1 Variants in Two Patients
Genes
Genetics
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
