Rinat Zaid
Haifa, HA, Israel
Last Updated: 09/26/2026
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Found 12 publications
CCDC149: a novel gene associated with hypopituitarism and neurodevelopmental impairment.
Journal: European journal of endocrinology
Published: March 23, 2026
Using chanarin-dorfman syndrome patient fibroblasts to explore disease mechanisms and new treatment avenues.
Journal: Orphanet journal of rare diseases
Published: November 09, 2024
PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia.
Journal: The Journal of clinical investigation
Published: April 26, 2024
Rapid exome sequencing for children with severe acute encephalopathy - A case series.
Journal: European journal of medical genetics
Published: June 08, 2023
Publicly funded exome sequencing for outpatients with neurodevelopmental disorders demonstrates a high rate of unexpected findings impacting medical management.
Journal: Genetics in medicine open
Published: March 25, 2023
Exome sequencing links the SUMO protease SENP7 with fatal arthrogryposis multiplex congenita, early respiratory failure and neutropenia.
Journal: Journal of medical genetics
Published: March 10, 2023
Comparative Phenotypic, Genomic, and Transcriptomic Analyses of Two Contrasting Strains of the Plant Beneficial Fungus Trichoderma virens.
Journal: Microbiology spectrum
Published: January 31, 2023
Genetic Markers Among the Israeli Druze Minority Population With End-Stage Kidney Disease.
Journal: American journal of kidney diseases : the official journal of the National Kidney Foundation
Published: December 31, 2022
De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: March 07, 2022
The generation of hybrid electrospun nanofiber layer with extracellular matrix derived from human pluripotent stem cells, for regenerative medicine applications.
Journal: Tissue engineering. Part A
Published: September 04, 2014
Showing 1-12 of 12
Last Updated: 09/26/2026