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Publications by Dilara Uygun

F-Bar Domain Only Protein 1 (FCHO1) Deficiency Is a Novel Cause of Combined Immune Deficiency in Humans

Journal of Allergy and Clinical Immunology

English

Related publications

Combined Immune Deficiency in Nager's Syndrome

Pediatric Research

English

A Novel KAL1 Mutation Is Associated With Combined Pituitary Hormone Deficiency

Human Genome Variation

Molecular Biology

English

Protein C Deficiency: A Cause of Amaurosis Fugax?

Journal of Neurology, Neurosurgery and Psychiatry

English

Identification of Two Novel Mutations Associated With Combined Protein C and Protein S Deficiency

Vascular Diseases and Therapeutics

English

Gain-Of-Function IKBKB Mutation Causes Human Combined Immune Deficiency

Journal of Experimental Medicine

English

Three-Dimensional Clustering of HumanRAG2Gene Mutations in Severe Combined Immune Deficiency

Journal of Biological Chemistry

Molecular Biology

English

Multiple Pituitary Hormone Deficiency: Beware of Combined Hormones Deficiency

International Journal of Pediatric Endocrinology

English

B-Cell Activating Factor Receptor Deficiency Is Associated With an Adult-Onset Antibody Deficiency Syndrome in Humans

Proceedings of the National Academy of Sciences of the United States of America

Multidisciplinary

English

Glucose Transporter 1 Deficiency as a Treatable Cause of Myoclonic Astatic Epilepsy

Archives of Neurology

English