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Publications by Pietro Maffei

Clinical Utility Gene Card For: Alström Syndrome

European Journal of Human Genetics
Genetics
2011English

Ophthalmic Features of Cone-Rod Dystrophy Caused by Pathogenic Variants in the ALMS1 Gene

Acta Ophthalmologica
MedicineOphthalmology
2017English

The Endothelium in Acromegaly

Frontiers in Endocrinology
EndocrinologyMetabolismDiabetes
2019English

The Alström Syndrome Protein, ALMS1, Interacts With Α-Actinin and Components of the Endosome Recycling Pathway

PLoS ONE
Multidisciplinary
2012English

New Alström Syndrome Phenotypes Based on the Evaluation of 182 Cases

Archives of Internal Medicine
2005English

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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

Nature Reviews Genetics
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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

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

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2012English

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

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

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