Yael Finezilber
Tel Litwinsky, TA, Israel
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 12 publications
Real-World Effectiveness of Burosumab in Adults with X-Linked Hypophosphataemia (XLH) in the UK.
Journal: Calcified tissue international
Published: June 05, 2025
Arginine:glycine amidinotransferase (AGAT) deficiency: an easy-to-miss treatable adult-onset myopathy.
Journal: Practical neurology
Published: December 10, 2023
The yield of genetic workup for middle-aged and elderly patients with neurological disorders in a real-world setting.
Journal: Journal of the neurological sciences
Published: November 07, 2023
Investigation of the relationship between phenylalanine in venous plasma and capillary blood using volumetric blood collection devices.
Journal: JIMD reports
Published: August 15, 2023
Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: January 25, 2022
A single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomalies.
Journal: Scientific reports
Published: April 15, 2021
Shared facial phenotype of patients with mucolipidosis type IV: A clinical observation reaffirmed by next generation phenotyping.
Journal: European journal of medical genetics
Published: January 03, 2020
Genotype-Serotype Interactions Shed Light on Genetic Components of Inflammatory Bowel Diseases.
Journal: Inflammatory bowel diseases
Published: February 20, 2018
Diaphanospondylodysostosis: Refining the prenatal diagnosis of a rare skeletal disorder.
Journal: European journal of medical genetics
Published: October 03, 2017
Erratum to: Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey.
Journal: Journal of clinical immunology
Published: April 30, 2016
Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey.
Journal: Journal of clinical immunology
Published: December 15, 2015
Extensive Mongolian Spots and Lysosomal Storage Diseases.
Journal: The Journal of pediatrics
Published: October 17, 2015
Showing 1-12 of 12
Last Updated: 09/26/2026