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Practical Neurology|February 13, 2024
Arginine:glycine amidinotransferase (AGAT) deficiency: an easy-to-miss treatable adult-onset myopathyYael Finezilber, Charlotte Massey, Jessica A Radley, et al.
European Journal of Medical Genetics|April 17, 2020
Shared facial phenotype of patients with mucolipidosis type IV: A clinical observation reaffirmed by next generation phenotypingBen Pode-Shakked, Yael Finezilber, Yonit Levi, et al.
Inflammatory Bowel Diseases|September 29, 2018
Genotype-Serotype Interactions Shed Light on Genetic Components of Inflammatory Bowel DiseasesShay Ben-Shachar, Yael Finezilber, Hofit Elad, et al.
JIMD Reports|November 6, 2023
Investigation of the relationship between phenylalanine in venous plasma and capillary blood using volumetric blood collection devicesRachel S Carling, Zoe Barclay, Nathan Cantley, et al.
European Journal of Medical Genetics|July 15, 2018
Diaphanospondylodysostosis: Refining the prenatal diagnosis of a rare skeletal disorderLior Greenbaum, Yinon Gilboa, Annick Raas-Rothschild, et al.
Calcified Tissue International|September 18, 2025
Real-World Effectiveness of Burosumab in Adults with X-Linked Hypophosphataemia (XLH) in the UKJudith Bubbear, Robin Lachmann, Elaine Murphy, et al.
Journal of the Neurological Sciences|July 5, 2024
The yield of genetic workup for middle-aged and elderly patients with neurological disorders in a real-world settingNoga Lempel, Shahar Shelly, Odelia Chorin, et al.
Journal of Clinical Immunology|March 9, 2016
Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive SurveyTracy A Briggs, Gillian I Rice, Navid Adib, et al.
Scientific Reports|September 28, 2021
A single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomaliesBen Pode-Shakked, Ortal Barel, Amihood Singer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 3, 2022
Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaireSarah C Grünert, Terry G J Derks, Katarina Adrian, et al.
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