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Publications by Julia Pazmandi

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

Network Analysis of Inflammatory Bowel Disease Reveals PTPN2 as New Monogenic Cause of Intestinal Inflammation

English

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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