Sylvie Charcon-Polak
Tel Litwinsky, TA, Israel
Last Updated: 09/26/2026
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Found 10 publications
Human fetal kidney organoids model early human nephrogenesis and Notch-driven cell fate.
Journal: The EMBO journal
Published: May 06, 2025
Elucidating Mechanisms of Hypomorphic WDR19-Related Kidney Failure.
Journal: Kidney international reports
Published: January 17, 2025
Clinical, biochemical and cell biological characterization of KIDAR syndrome associated with a novel AP1B1 variant.
Journal: Molecular genetics and metabolism
Published: December 09, 2024
Enhanced Collagen Deposition in the Duodenum of Patients with Hyaline Fibromatosis Syndrome and Protein Losing Enteropathy.
Journal: International journal of molecular sciences
Published: October 08, 2020
Deleterious variants in TRAK1 disrupt mitochondrial movement and cause fatal encephalopathy.
Journal: Brain : a journal of neurology
Published: September 12, 2016
Nonobstructive Diffuse Dilated Bowel Loops: Prenatal Diagnosis, Fetal Characteristics and Neonatal Outcomes.
Journal: Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine
Published: January 30, 2016
A Homozygous Nme7 Mutation Is Associated with Situs Inversus Totalis.
Journal: Human mutation
Published: September 10, 2015
Celiac disease resolution after allogeneic bone marrow transplantation is associated with absence of gliadin-specific memory response by donor-derived intestinal T-cells.
Journal: Journal of clinical immunology
Published: May 12, 2013
Titin mutation in familial restrictive cardiomyopathy.
Journal: International journal of cardiology
Published: April 02, 2013
Carrier state for the nebulin exon 55 deletion and abnormal prenatal ultrasound findings as potential signs of nemaline myopathy.
Journal: Prenatal diagnosis
Published: February 28, 2012
Showing 1-10 of 10
Last Updated: 09/26/2026