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Publications by Claudia Gonzaga-Jauregui

Bi-Allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay

American Journal of Human Genetics

English

Novel Risk Genes and Mechanisms Implicated by Exome Sequencing of 2572 Individuals With Pulmonary Arterial Hypertension

Genome Medicine

Molecular Medicine

Molecular Biology

English

Human Genome Sequencing in Health and Disease

Annual Review of Medicine

Molecular Biology

English

Phenotype and Mutation Expansion of the PTPN23 Associated Disorder Characterized by Neurodevelopmental Delay and Structural Brain Abnormalities

European Journal of Human Genetics

English

Mutations in COL27A1 Cause Steel Syndrome and Suggest a Founder Mutation Effect in the Puerto Rican Population

European Journal of Human Genetics

English

Kcnj11 Mutation in One Family Is Associated With Adult Onset Rather Than Neonatal Onset Diabetes (Adult-Onset Diabetes From Kcnj11)

AACE Clinical Case Reports

English