Ifat Joseph-Bar
Ramat Gan, TA, Israel
Last Updated: 09/26/2026
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Found 8 publications
Refining the Phenotypic Spectrum of KMT5B-Associated Developmental Delay.
Journal: Frontiers in pediatrics
Published: December 28, 2021
A multidisciplinary nephrogenetic referral clinic for children and adults-diagnostic achievements and insights.
Journal: Pediatric nephrology (Berlin, Germany)
Published: August 23, 2021
Broadening the phenotype of LRRK1 mutations - Features of malignant osteopetrosis and optic nerve atrophy with intrafamilial variable expressivity.
Journal: European journal of medical genetics
Published: April 26, 2021
A single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomalies.
Journal: Scientific reports
Published: April 15, 2021
Noncoding deletions reveal a gene that is critical for intestinal function.
Journal: Nature
Published: September 19, 2014
Mutations in the sarcosine dehydrogenase gene in patients with sarcosinemia.
Journal: Human genetics
Published: June 03, 2012
Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis.
Journal: American journal of human genetics
Published: April 25, 2012
Showing 1-8 of 8
Last Updated: 09/26/2026