Chofit Gadot-Chai
Tel Aviv, TA, Israel
Last Updated: 09/26/2026
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Found 8 publications
Impaired Wnt/Planar Cell Polarity Signaling in Yellow Nail Syndrome.
Journal: Annals of internal medicine
Published: December 23, 2024
LSM1 c.231+4A>C hotspot variant is associated with a novel neurodevelopmental syndrome: first patient cohort.
Journal: Journal of medical genetics
Published: December 16, 2024
Corin and Left Atrial Cardiomyopathy, Hypertension, Arrhythmia, and Fibrosis. Reply.
Journal: The New England journal of medicine
Published: April 24, 2024
Complete loss of the atrial natriuretic peptide-converting enzyme Corin and CHAF-LA syndrome: Implications to natriuretic peptide physiology and left atrium health.
Journal: Clinical and translational medicine
Published: December 21, 2023
Corin and Left Atrial Cardiomyopathy, Hypertension, Arrhythmia, and Fibrosis.
Journal: The New England journal of medicine
Published: November 01, 2023
A common benign intronic deletion masking a pathogenic deep intronic PCCB variant - genome sequencing and RNA studies to the rescue.
Journal: Molecular genetics and metabolism
Published: August 16, 2023
Unique Ataxia-Oculomotor Apraxia 2 (AOA2) in Israel with Novel Variants, Atypical Late Presentation, and Possible Identification of a Poison Exon.
Journal: Journal of molecular neuroscience : MN
Published: April 11, 2022
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Last Updated: 09/26/2026