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Publications by Alfredo Brusco

A Syndromic Extreme Insulin Resistance Caused by Biallelic POC1A Mutations in Exon 10

European Journal of Endocrinology
MedicineEndocrinologyMetabolismDiabetes
2017English

SETX Mutations Are a Frequent Genetic Cause of Juvenile and Adult Onset Cerebellar Ataxia With Neuropathy and Elevated Serum Alpha-Fetoprotein

Orphanet Journal of Rare Diseases
MedicineGeneticsPharmacology
2013English

Three Novel Missense Mutations in SLC20A2 Associated With Idiopathic Basal Ganglia Calcification

Journal of the Neurological Sciences
Neurology
2017English

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2019English

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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2013English

Evolution of Genetic and Genomic Features Unique to the Human Lineage

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2012English

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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