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Publications by Borut Peterlin

De Novo Mutations in SLC25A24 Cause a Disorder Characterized by Early Aging, Bone Dysplasia, Characteristic Face, and Early Demise

American Journal of Human Genetics

English

AB022. External Quality Assessment of Clinical Genetics: From Pilot Assessment to Full External Quality Assurance Scheme

Annals of Translational Medicine

English

Genetic Variation in the CLOCK Gene Is Associated With Idiopathic Recurrent Spontaneous Abortion

Multidisciplinary

English

Expression Signature as a Biomarker for Prenatal Diagnosis of Trisomy 21

Multidisciplinary

English

Genomic Testing for Prenatal Clinical Evaluation of Congenital Anomalies

English

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

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Sequencing Studies in Human Genetics: Design and Interpretation

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Evolution of Genetic and Genomic Features Unique to the Human Lineage

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Recent Human Adaptation: Genomic Approaches, Interpretation and Insights

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

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

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Putting Gene Essentiality Into Context

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

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

Nature Reviews Genetics

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