Sagi Y. Josefsberg
Rehovot, M, Israel
Last Updated: 09/26/2026
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Found 8 publications
Clinical profiling and medical management of Israeli individuals with Phelan McDermid syndrome.
Journal: Orphanet journal of rare diseases
Published: August 24, 2024
Newborn screening algorithm distinguishing potential symptomatic isovaleric acidemia from asymptomatic newborns.
Journal: Journal of inherited metabolic disease
Published: April 12, 2024
Hereditary orotic aciduria identified by newborn screening.
Journal: Frontiers in genetics
Published: December 31, 2022
Addition of galactose-1-phosphate measurement enhances newborn screening for classical galactosemia.
Addition of galactose-1-phosphate measurement enhances newborn screening for classical galactosemia.
Journal: Journal of inherited metabolic disease
Published: October 01, 2022
The phenotype of 15 cases with rare 8q24.13-q24.3 deletions-A new syndrome or still an enigma?
Journal: American journal of medical genetics. Part A
Published: November 01, 2020
The role of orotic acid measurement in routine newborn screening for urea cycle disorders.
Journal: Journal of inherited metabolic disease
Published: August 22, 2020
Is fetal isolated double renal collecting system an indication for chromosomal microarray?
Journal: The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians
Published: April 30, 2019
Microarray analysis has no additional value in fetal aberrant right subclavian artery: description of 268 pregnancies and systematic literature review.
Journal: Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
Published: May 22, 2018
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Last Updated: 09/26/2026