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Publications by Silvia Giliani
F-Bar Domain Only Protein 1 (FCHO1) Deficiency Is a Novel Cause of Combined Immune Deficiency in Humans
Journal of Allergy and Clinical Immunology
Allergy
Immunology
Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies
Frontiers in Immunology
Allergy
Immunology
Related publications
Combined Immune Deficiency in Nager's Syndrome
Pediatric Research
Child Health
Pediatrics
Perinatology
A Novel KAL1 Mutation Is Associated With Combined Pituitary Hormone Deficiency
Human Genome Variation
Biochemistry
Genetics
Molecular Biology
Protein C Deficiency: A Cause of Amaurosis Fugax?
Journal of Neurology, Neurosurgery and Psychiatry
Psychiatry
Mental Health
Neurology
Surgery
Identification of Two Novel Mutations Associated With Combined Protein C and Protein S Deficiency
Vascular Diseases and Therapeutics
Gain-Of-Function IKBKB Mutation Causes Human Combined Immune Deficiency
Journal of Experimental Medicine
Medicine
Allergy
Immunology
Three-Dimensional Clustering of HumanRAG2Gene Mutations in Severe Combined Immune Deficiency
Journal of Biological Chemistry
Biochemistry
Cell Biology
Molecular Biology
Multiple Pituitary Hormone Deficiency: Beware of Combined Hormones Deficiency
International Journal of Pediatric Endocrinology
Child Health
Endocrinology
Perinatology
Pediatrics
Metabolism
Diabetes
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
Glucose Transporter 1 Deficiency as a Treatable Cause of Myoclonic Astatic Epilepsy
Archives of Neurology
