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Publications by Ans T. van der Ploeg

Segmental and Total Uniparental Isodisomy (UPiD) as a Disease Mechanism in Autosomal Recessive Lysosomal Disorders: Evidence From SNP Arrays

European Journal of Human Genetics

English

Craniosynostosis Affects the Majority of Mucopolysaccharidosis Patients and Can Contribute to Increased Intracranial Pressure

Journal of Inherited Metabolic Disease

English

Cost-Effectiveness of Enzyme Replacement Therapy With Alglucosidase Alfa in Adult Patients With Pompe Disease

Orphanet Journal of Rare Diseases

English

High Sustained Antibody Titers in Patients With Classic Infantile Pompe Disease Following Immunomodulation at Start of Enzyme Replacement Therapy

Journal of Pediatrics

English

Screening for Inborn Errors of Metabolism Using Untargeted Metabolomics and Out-Of-Batch Controls

English

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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

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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

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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

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

Nature Reviews Genetics

Molecular Biology

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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