Jana Shamash
Tel Litwinsky, TA, Israel
Last Updated: 09/26/2026
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Found 8 publications
A Gain-of -Function SLC4A3 Mutation Causes Short-QT Syndrome: From Molecular Analysis to Novel Diagnostic Testing.
Journal: JACC. Clinical electrophysiology
Published: November 19, 2024
Ser77Tyr transthyretin amyloidosis in Israel: Initial manifestations and diagnostic features.
Journal: Annals of clinical and translational neurology
Published: October 25, 2022
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
Early and late manifestations of neuropathy due to HSPB1 mutation in the Jewish Iranian population.
Journal: Annals of clinical and translational neurology
Published: November 11, 2020
Combined immunodeficiency in a patient with mosaic monosomy 21.
Journal: Immunologic research
Published: May 25, 2016
Chromosomal integrity of human preimplantation embryos at different days post fertilization.
Journal: Journal of assisted reproduction and genetics
Published: December 06, 2012
Screening of human pluripotent stem cells using CGH and FISH reveals low-grade mosaic aneuploidy and a recurrent amplification of chromosome 1q.
Journal: European journal of human genetics : EJHG
Published: June 21, 2012
Showing 1-8 of 8
Last Updated: 09/26/2026