Amit Nahum

Beersheba, D, Israel

Last Updated: 09/26/2026

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Found 39 publications

Acute mastoiditis-associated cerebral sinus venous thrombosis in children: a retrospective review.

Acute mastoiditis-associated cerebral sinus venous thrombosis in children: a retrospective review.

Journal: European journal of pediatrics

Published: July 06, 2025

Comprehensive Profiling of T- and B-Cell Receptor Repertoires Demonstrates Impaired Developmental and Activation of Adaptive Immunity in DOCK8 Deficiency.

Comprehensive Profiling of T- and B-Cell Receptor Repertoires Demonstrates Impaired Developmental and Activation of Adaptive Immunity in DOCK8 Deficiency.

Journal: Journal of clinical immunology

Published: July 01, 2025

Respiratory Manifestations in Pediatric Patients With Interleukin 6 Receptor Deficiency.

Respiratory Manifestations in Pediatric Patients With Interleukin 6 Receptor Deficiency.

Journal: Pediatric pulmonology

Published: March 12, 2025

Early-Onset Movement Disorder Syndrome Caused by Biallelic Variants in PDE1B Encoding Phosphodiesterase 1B.

Early-Onset Movement Disorder Syndrome Caused by Biallelic Variants in PDE1B Encoding Phosphodiesterase 1B.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: December 29, 2024

Autosomal-dominant Roquin-1 immunodeficiency and hyperinflammation.

Autosomal-dominant Roquin-1 immunodeficiency and hyperinflammation.

Journal: The Journal of allergy and clinical immunology

Published: September 27, 2024

One hundred thirty-four germ line PU.1 variants and the agammaglobulinemic patients carrying them.

One hundred thirty-four germ line PU.1 variants and the agammaglobulinemic patients carrying them.

Journal: Blood

Published: September 09, 2024

High success rate in demonstration of soft palate in early and late mid-trimester ultrasound scans.

High success rate in demonstration of soft palate in early and late mid-trimester ultrasound scans.

Journal: Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology

Published: August 11, 2024

X-linked C1GALT1C1 mutation causes atypical hemolytic uremic syndrome.

X-linked C1GALT1C1 mutation causes atypical hemolytic uremic syndrome.

Journal: European journal of human genetics : EJHG

Published: October 13, 2022

SLP76 Mutation Associated with Combined Immunodeficiency and EBV-Related Lymphoma.

SLP76 Mutation Associated with Combined Immunodeficiency and EBV-Related Lymphoma.

Journal: Journal of clinical immunology

Published: October 02, 2022

Inhaled Nitric Oxide for the Treatment of Acute Bronchiolitis: A Multicenter Randomized Controlled Clinical Trial to Evaluate Dose Response.

Inhaled Nitric Oxide for the Treatment of Acute Bronchiolitis: A Multicenter Randomized Controlled Clinical Trial to Evaluate Dose Response.

Journal: Annals of the American Thoracic Society

Published: September 28, 2022

Dominant-negative signal transducer and activator of transcription (STAT)3 variants in adult patients: A single center experience.

Dominant-negative signal transducer and activator of transcription (STAT)3 variants in adult patients: A single center experience.

Journal: Frontiers in immunology

Published: September 15, 2022

Hypoparathyroidism-Retardation-Dysmorphism Syndrome due to a Variant in the Tubulin-Specific Chaperone E Gene as a Cause of Combined Immune Deficiency.

Hypoparathyroidism-Retardation-Dysmorphism Syndrome due to a Variant in the Tubulin-Specific Chaperone E Gene as a Cause of Combined Immune Deficiency.

Journal: Journal of clinical immunology

Published: June 27, 2022

Showing 1-12 of 39

Last Updated: 09/26/2026