Magdeldin Elgizouli
Essen, NW, Germany
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 23 publications
Novel KIF5A variant in a patient with early-onset levodopa-responsive Parkinson's syndrome.
Journal: BMJ case reports
Published: February 02, 2026
The Kabuki Syndrome in 18 F-FDG-PET/CT.
Journal: Clinical nuclear medicine
Published: February 12, 2025
Cerebral inflammation in a patient with Kabuki syndrome.
Journal: Acta neurologica Belgica
Published: November 28, 2024
Pediatric Acute B-Lymphoblastic Leukemia Presenting as Hypereosinophilia With Lung Involvement and Elevated Immunoglobulin E Levels.
Journal: Pediatric blood & cancer
Published: September 03, 2024
DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders.
DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders.
Journal: American journal of human genetics
Published: July 24, 2024
Variants in IGLL1 cause a broad phenotype from agammaglobulinemia to transient hypogammaglobulinemia.
Journal: The Journal of allergy and clinical immunology
Published: May 22, 2024
Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: February 17, 2023
No evidence for intervention-associated DNA methylation changes in monocytes of patients with posttraumatic stress disorder.
Journal: Scientific reports
Published: August 03, 2021
Parathyroid Hormone in Pregnancy: Vitamin D and Other Determinants.
Journal: Nutrients
Published: November 14, 2020
One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver-Russell syndrome.
Journal: Orphanet journal of rare diseases
Published: July 03, 2020
Further evidence for POMK as candidate gene for WWS with meningoencephalocele.
Journal: Orphanet journal of rare diseases
Published: May 18, 2020
The adult phenotype of Schaaf-Yang syndrome.
Journal: Orphanet journal of rare diseases
Published: March 05, 2020
Last Updated: 09/26/2026